{"id":"https://openalex.org/W7204898412","doi":"https://doi.org/10.64898/2026.08.26.747343","title":"Early MATR3 loss and distinct neurodegenerative molecular signatures precede the onset of neuropathology in motor neurons and Purkinje cells of MATR3 S85C knock-in mouse model of ALS","display_name":"Early MATR3 loss and distinct neurodegenerative molecular signatures precede the onset of neuropathology in motor neurons and Purkinje cells of MATR3 S85C knock-in mouse model of ALS","publication_year":2026,"publication_date":"2026-08-31","ids":{"openalex":"https://openalex.org/W7204898412","doi":"https://doi.org/10.64898/2026.08.26.747343"},"language":"en","primary_location":{"id":"doi:10.64898/2026.08.26.747343","doi":"https://doi.org/10.64898/2026.08.26.747343","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.08.26.747343","pdf_url":null,"source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},"volume":null,"type":"preprint","is_traditional":true,"indexed_in":["crossref"],"open_access":{"is_oa":true,"oa_status":"green","oa_url":"https://doi.org/10.64898/2026.08.26.747343","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5031540597","display_name":"Katarina Maksimovic","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Katarina Maksimovic","raw_affiliation_strings":["Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5042075715","display_name":"Majji Rambabu","orcid":"https://orcid.org/0000-0003-2560-6394","observed_orcids":["https://orcid.org/0000-0003-2560-6394"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]},{"id":"https://openalex.org/I4210147586","display_name":"Texas Children's Hospital","ror":"https://ror.org/05cz92x43","country_code":"US","type":"funder","lineage":["https://openalex.org/I4210147586"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Rambabu Majji","raw_affiliation_strings":["Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA","Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital, Houston, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital, Houston, TX, USA","institution_ids":["https://openalex.org/I4210147586"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5101951635","display_name":"Jhune Rizsan Santos","orcid":"https://orcid.org/0000-0001-6509-3648","observed_orcids":["https://orcid.org/0000-0001-6509-3648","https://orcid.org/0009-0007-9053-141X"]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Jhune Rizsan Santos","raw_affiliation_strings":["Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5007903266","display_name":"Cadia Chan","orcid":"https://orcid.org/0000-0002-4810-8366","observed_orcids":["https://orcid.org/0000-0002-4810-8366"]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Cadia Chan","raw_affiliation_strings":["Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5125260892","display_name":"Anneka Zelaya","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Anneka Zelaya","raw_affiliation_strings":["Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5051600824","display_name":"Jooyun Lee","orcid":"https://orcid.org/0000-0001-6635-0669","observed_orcids":["https://orcid.org/0000-0001-6635-0669"]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Jooyun Lee","raw_affiliation_strings":["Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5113131443","display_name":"Michelle Dias","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]},{"id":"https://openalex.org/I4210147586","display_name":"Texas Children's Hospital","ror":"https://ror.org/05cz92x43","country_code":"US","type":"funder","lineage":["https://openalex.org/I4210147586"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Michelle Dias","raw_affiliation_strings":["Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA","Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital, Houston, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital, Houston, TX, USA","institution_ids":["https://openalex.org/I4210147586"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5078782502","display_name":"Oxana B. Gluscencova","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Oxana B. Gluscencova","raw_affiliation_strings":["Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009058187","display_name":"Mohieldin Youssef","orcid":"https://orcid.org/0000-0002-4657-0768","observed_orcids":["https://orcid.org/0000-0002-4657-0768"]},"institutions":[{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Mohieldin M. M. Youssef","raw_affiliation_strings":["Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5148932657","display_name":"Sandra Kim","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Sandra Kim","raw_affiliation_strings":["Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5148929241","display_name":"Tiara Noronha","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Tiara Noronha","raw_affiliation_strings":["Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5148838617","display_name":"Christine Lai","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Christine Lai","raw_affiliation_strings":["Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5036785714","display_name":"Y. B. Fan","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Yiting Fan","raw_affiliation_strings":["Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5107203563","display_name":"Mark N Metri","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Mark N. Metri","raw_affiliation_strings":["Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5059089541","display_name":"Justin You","orcid":"https://orcid.org/0009-0009-0002-4540","observed_orcids":["https://orcid.org/0009-0009-0002-4540"]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Justin You","raw_affiliation_strings":["Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5058039269","display_name":"Ching Serena Kao","orcid":"https://orcid.org/0000-0002-0887-4832","observed_orcids":["https://orcid.org/0000-0002-0887-4832"]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Ching Serena Kao","raw_affiliation_strings":["Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5006497469","display_name":"Lu\u2010Yang Wang","orcid":"https://orcid.org/0000-0002-5399-944X","observed_orcids":["https://orcid.org/0000-0002-5399-944X"]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Lu-Yang Wang","raw_affiliation_strings":["Department of Physiology, University of Toronto, ON, Canada","Program in Neurosciences & Mental Health, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Physiology, University of Toronto, ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Program in Neurosciences & Mental Health, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5009684074","display_name":"Julie L. Lefebvre","orcid":"https://orcid.org/0000-0002-3110-860X","observed_orcids":["https://orcid.org/0000-0002-3110-860X"]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Julie L. Lefebvre","raw_affiliation_strings":["Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","Program in Neurosciences & Mental Health, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Program in Neurosciences & Mental Health, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5029271686","display_name":"Michael D. Wilson","orcid":"https://orcid.org/0000-0002-4015-3066","observed_orcids":["https://orcid.org/0000-0002-4015-3066"]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":false,"raw_author_name":"Michael D. Wilson","raw_affiliation_strings":["Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":"https://orcid.org/0000-0002-4015-3066","affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000384375","display_name":"Hari Krishna Yalamanchili","orcid":"https://orcid.org/0000-0001-9892-3054","observed_orcids":["https://orcid.org/0000-0001-9892-3054"]},"institutions":[{"id":"https://openalex.org/I181547552","display_name":"Baylor College of Medicine","ror":"https://ror.org/02pttbw34","country_code":"US","type":"education","lineage":["https://openalex.org/I181547552","https://openalex.org/I2801539370"]},{"id":"https://openalex.org/I4210141908","display_name":"Children's Nutrition Research Center at Baylor College of Medicine","ror":"https://ror.org/03s936v76","country_code":"US","type":"government","lineage":["https://openalex.org/I1312222531","https://openalex.org/I1336096307","https://openalex.org/I4210141908","https://openalex.org/I4210145274"]},{"id":"https://openalex.org/I4210147586","display_name":"Texas Children's Hospital","ror":"https://ror.org/05cz92x43","country_code":"US","type":"funder","lineage":["https://openalex.org/I4210147586"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"Hari Krishna Yalamanchili","raw_affiliation_strings":["Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA","Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital, Houston, TX, USA","USDA/ARS Children\u2019s Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA","institution_ids":["https://openalex.org/I181547552"]},{"raw_affiliation_string":"Jan and Dan Duncan Neurological Research Institute at Texas Children\u2019s Hospital, Houston, TX, USA","institution_ids":["https://openalex.org/I4210147586"]},{"raw_affiliation_string":"USDA/ARS Children\u2019s Nutrition Research Center, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA","institution_ids":["https://openalex.org/I181547552","https://openalex.org/I4210141908"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5018413457","display_name":"Jeehye Park","orcid":"https://orcid.org/0000-0003-1945-6684","observed_orcids":["https://orcid.org/0000-0003-1945-6684"]},"institutions":[{"id":"https://openalex.org/I185261750","display_name":"University of Toronto","ror":"https://ror.org/03dbr7087","country_code":"CA","type":"education","lineage":["https://openalex.org/I185261750"]},{"id":"https://openalex.org/I2801317318","display_name":"Hospital for Sick Children","ror":"https://ror.org/057q4rt57","country_code":"CA","type":"healthcare","lineage":["https://openalex.org/I2801317318"]}],"countries":["CA"],"is_corresponding":true,"raw_author_name":"Jeehye Park","raw_affiliation_strings":["Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada"],"raw_orcid":"https://orcid.org/0000-0003-1945-6684","affiliations":[{"raw_affiliation_string":"Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada","institution_ids":["https://openalex.org/I185261750"]},{"raw_affiliation_string":"Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, ON, Canada","institution_ids":["https://openalex.org/I2801317318"]}]}],"institutions":[],"countries_distinct_count":2,"institutions_distinct_count":5,"corresponding_author_ids":["https://openalex.org/A5018413457"],"corresponding_institution_ids":["https://openalex.org/I185261750","https://openalex.org/I2801317318"],"apc_list":null,"apc_paid":null,"fwci":null,"has_fulltext":false,"cited_by_count":0,"citation_normalized_percentile":null,"cited_by_percentile_year":null,"biblio":{"volume":null,"issue":null,"first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},"topics":[{"id":"https://openalex.org/T10855","display_name":"Amyotrophic Lateral Sclerosis Research","score":1.0,"subfield":{"id":"https://openalex.org/subfields/2728","display_name":"Clinical Neurology"},"field":{"id":"https://openalex.org/fields/27","display_name":"Medicine"},"domain":{"id":"https://openalex.org/domains/4","display_name":"Health Sciences"}},{"id":"https://openalex.org/T10949","display_name":"Genetic Neurodegenerative Diseases","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T12331","display_name":"Hereditary Neurological Disorders","score":0.0,"subfield":{"id":"https://openalex.org/subfields/2804","display_name":"Cellular and Molecular Neuroscience"},"field":{"id":"https://openalex.org/fields/28","display_name":"Neuroscience"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/amyotrophic-lateral-sclerosis","display_name":"amyotrophic lateral sclerosis","score":0.9990000128746033},{"id":"https://openalex.org/keywords/matr3","display_name":"MATR3","score":0.8389999866485596},{"id":"https://openalex.org/keywords/motor-neurons","display_name":"motor neurons","score":0.7900000214576721},{"id":"https://openalex.org/keywords/purkinje-cells","display_name":"Purkinje cells","score":0.9449999928474426},{"id":"https://openalex.org/keywords/neurodegeneration","display_name":"neurodegeneration","score":0.7879999876022339},{"id":"https://openalex.org/keywords/cerebellum","display_name":"cerebellum","score":0.7749999761581421},{"id":"https://openalex.org/keywords/nerve-growth-factor-receptor","display_name":"nerve growth factor receptor","score":0.8289999961853027},{"id":"https://openalex.org/keywords/fgf21","display_name":"FGF21","score":0.9769999980926514},{"id":"https://openalex.org/keywords/integrated-stress-response","display_name":"integrated stress response","score":1.0}],"concepts":[{"id":"https://openalex.org/C2776925932","wikidata":"https://www.wikidata.org/wiki/Q1755122","display_name":"Neurodegeneration","level":3,"score":0.8492000102996826},{"id":"https://openalex.org/C2780596555","wikidata":"https://www.wikidata.org/wiki/Q206901","display_name":"Amyotrophic lateral sclerosis","level":3,"score":0.8375999927520752},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.7490000128746033},{"id":"https://openalex.org/C2776752467","wikidata":"https://www.wikidata.org/wiki/Q1133903","display_name":"Motor neuron","level":3,"score":0.711899995803833},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.6561999917030334},{"id":"https://openalex.org/C2777615887","wikidata":"https://www.wikidata.org/wiki/Q15328137","display_name":"SOD1","level":4,"score":0.5185999870300293},{"id":"https://openalex.org/C2779652256","wikidata":"https://www.wikidata.org/wiki/Q130983","display_name":"Cerebellum","level":2,"score":0.5146999955177307},{"id":"https://openalex.org/C2778472085","wikidata":"https://www.wikidata.org/wiki/Q1570272","display_name":"Purkinje cell","level":3,"score":0.478300005197525},{"id":"https://openalex.org/C2780130745","wikidata":"https://www.wikidata.org/wiki/Q1650750","display_name":"Neuropathology","level":3,"score":0.4586000144481659},{"id":"https://openalex.org/C2777898937","wikidata":"https://www.wikidata.org/wiki/Q5008447","display_name":"C9orf72","level":5,"score":0.43209999799728394},{"id":"https://openalex.org/C127445978","wikidata":"https://www.wikidata.org/wiki/Q187181","display_name":"Synapse","level":2,"score":0.41839998960494995},{"id":"https://openalex.org/C171139928","wikidata":"https://www.wikidata.org/wiki/Q2915553","display_name":"Motor system","level":2,"score":0.3614000082015991},{"id":"https://openalex.org/C31573885","wikidata":"https://www.wikidata.org/wiki/Q304484","display_name":"Programmed cell death","level":3,"score":0.34599998593330383},{"id":"https://openalex.org/C2779134260","wikidata":"https://www.wikidata.org/wiki/Q12136","display_name":"Disease","level":2,"score":0.3458999991416931},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.328900009393692},{"id":"https://openalex.org/C2778794669","wikidata":"https://www.wikidata.org/wiki/Q43054","display_name":"Neuron","level":2,"score":0.32269999384880066},{"id":"https://openalex.org/C2778641062","wikidata":"https://www.wikidata.org/wiki/Q18592","display_name":"Frontotemporal dementia","level":4,"score":0.27070000767707825},{"id":"https://openalex.org/C41282012","wikidata":"https://www.wikidata.org/wiki/Q3928341","display_name":"RNA-binding protein","level":4,"score":0.2703999876976013},{"id":"https://openalex.org/C551621295","wikidata":"https://www.wikidata.org/wiki/Q182228","display_name":"Brainstem","level":2,"score":0.26600000262260437},{"id":"https://openalex.org/C150194340","wikidata":"https://www.wikidata.org/wiki/Q26972","display_name":"Gene expression","level":3,"score":0.2581999897956848},{"id":"https://openalex.org/C141035611","wikidata":"https://www.wikidata.org/wiki/Q5532934","display_name":"Genetically modified mouse","level":4,"score":0.2531999945640564},{"id":"https://openalex.org/C67705224","wikidata":"https://www.wikidata.org/wiki/Q11053","display_name":"RNA","level":3,"score":0.25060001015663147}],"mesh":[],"locations_count":1,"locations":[{"id":"doi:10.64898/2026.08.26.747343","doi":"https://doi.org/10.64898/2026.08.26.747343","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.08.26.747343","pdf_url":null,"source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"}],"best_oa_location":{"id":"doi:10.64898/2026.08.26.747343","doi":"https://doi.org/10.64898/2026.08.26.747343","is_oa":true,"landing_page_url":"https://doi.org/10.64898/2026.08.26.747343","pdf_url":null,"source":{"id":"https://openalex.org/S4306402567","display_name":"bioRxiv (Cold Spring Harbor Laboratory)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I2750212522","host_organization_name":"Cold Spring Harbor Laboratory","host_organization_lineage":["https://openalex.org/I2750212522"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-nc-nd","license_id":"https://openalex.org/licenses/cc-by-nc-nd","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"bioRxiv","raw_type":"posted-content"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.9763000011444092}],"study_designs":[],"awards":[{"id":"https://openalex.org/G6945653425","display_name":null,"funder_award_id":"202104PJT-462444-NSB-CEAB-275899","funder_id":"https://openalex.org/F4320334506","funder_display_name":"Canadian Institutes of Health Research"},{"id":"https://openalex.org/G8198066828","display_name":null,"funder_award_id":"CRC-2021-00063","funder_id":"https://openalex.org/F4320320994","funder_display_name":"Canada Research Chairs"}],"funders":[{"id":"https://openalex.org/F4320320994","display_name":"Canada Research Chairs","ror":"https://ror.org/0517h6h17"},{"id":"https://openalex.org/F4320334506","display_name":"Canadian Institutes of Health Research","ror":"https://ror.org/01gavpb45"}],"has_content":{"grobid_xml":false,"pdf":false},"content_urls":null,"referenced_works_count":104,"referenced_works":["https://openalex.org/W1487180725","https://openalex.org/W1504564486","https://openalex.org/W1514323236","https://openalex.org/W1533438796","https://openalex.org/W1972681625","https://openalex.org/W1973237374","https://openalex.org/W1975542710","https://openalex.org/W1978793403","https://openalex.org/W1979286020","https://openalex.org/W1980128350","https://openalex.org/W1982364050","https://openalex.org/W1990318878","https://openalex.org/W1994886722","https://openalex.org/W1995185770","https://openalex.org/W2003618511","https://openalex.org/W2005701137","https://openalex.org/W2012729455","https://openalex.org/W2025413109","https://openalex.org/W2030716982","https://openalex.org/W2031964319","https://openalex.org/W2040891140","https://openalex.org/W2062097791","https://openalex.org/W2062618223","https://openalex.org/W2066002405","https://openalex.org/W2070050178","https://openalex.org/W2070720564","https://openalex.org/W2077897416","https://openalex.org/W2078567794","https://openalex.org/W2088009451","https://openalex.org/W2092994251","https://openalex.org/W2095465667","https://openalex.org/W2115155255","https://openalex.org/W2115462299","https://openalex.org/W2117597459","https://openalex.org/W2122906925","https://openalex.org/W2130879335","https://openalex.org/W2135522980","https://openalex.org/W2140620304","https://openalex.org/W2149256723","https://openalex.org/W2150626351","https://openalex.org/W2153784495","https://openalex.org/W2161424144","https://openalex.org/W2164983138","https://openalex.org/W2167392643","https://openalex.org/W2169456326","https://openalex.org/W2171960324","https://openalex.org/W2174342683","https://openalex.org/W2176573583","https://openalex.org/W2179438025","https://openalex.org/W2215096491","https://openalex.org/W2235188306","https://openalex.org/W2518959324","https://openalex.org/W2527740055","https://openalex.org/W2556818673","https://openalex.org/W2560519674","https://openalex.org/W2599396769","https://openalex.org/W2755963975","https://openalex.org/W2775215876","https://openalex.org/W2797504131","https://openalex.org/W2884243787","https://openalex.org/W2909536729","https://openalex.org/W2919268190","https://openalex.org/W2929734511","https://openalex.org/W2943626993","https://openalex.org/W2946320345","https://openalex.org/W2951912016","https://openalex.org/W2953775971","https://openalex.org/W2964288946","https://openalex.org/W2972994498","https://openalex.org/W2976902163","https://openalex.org/W2979144696","https://openalex.org/W3027441265","https://openalex.org/W3034958546","https://openalex.org/W3049496146","https://openalex.org/W3094421202","https://openalex.org/W3167695230","https://openalex.org/W3174612049","https://openalex.org/W3175110976","https://openalex.org/W3192960117","https://openalex.org/W3203176450","https://openalex.org/W4213275239","https://openalex.org/W4236884331","https://openalex.org/W4315707269","https://openalex.org/W4319316330","https://openalex.org/W4319442724","https://openalex.org/W4319656877","https://openalex.org/W4387057465","https://openalex.org/W4389322447","https://openalex.org/W4390603573","https://openalex.org/W4394947223","https://openalex.org/W4399358733","https://openalex.org/W4399874918","https://openalex.org/W4402546388","https://openalex.org/W4405971159","https://openalex.org/W4408341147","https://openalex.org/W4408884584","https://openalex.org/W4409741910","https://openalex.org/W4412491579","https://openalex.org/W4412954322","https://openalex.org/W4413280088","https://openalex.org/W7134909647","https://openalex.org/W7135017052","https://openalex.org/W7161164514","https://openalex.org/W7165678572"],"related_works":["https://openalex.org/W7132975219","https://openalex.org/W3094421202","https://openalex.org/W4213275239","https://openalex.org/W7046100665","https://openalex.org/W4316036346","https://openalex.org/W3175789394","https://openalex.org/W3174502555","https://openalex.org/W4402546388","https://openalex.org/W7133090193","https://openalex.org/W6902573142"],"abstract_inverted_index":{"ABSTRACT":[0],"Amyotrophic":[1],"lateral":[2],"sclerosis":[3],"(ALS)":[4],"is":[5,40],"a":[6,27,61,99],"motor":[7,16,31,73,79,115,124,143,194],"neuron":[8,241],"disease,":[9],"leading":[10],"to":[11,84,109,208],"progressive":[12],"muscle":[13],"weakness":[14],"and":[15,75,81,117,126,142,173,198,211,238],"impairment.":[17],"Growing":[18],"evidence":[19],"indicates":[20],"that":[21,46,98],"cerebellar":[22,139],"Purkinje":[23,82,118,165],"cells,":[24],"which":[25],"play":[26],"central":[28],"role":[29],"in":[30,36,49,91,102,113,164,220,234],"coordination,":[32],"are":[33,54],"also":[34],"affected":[35],"ALS.":[37],"However,":[38],"it":[39],"unclear":[41],"whether":[42],"the":[43,86,121,132,149,159,168,177,187,193,206,230],"molecular":[44,87,135,156],"events":[45,88],"initiate":[47],"neurodegeneration":[48,90,233],"these":[50,92],"ALS-relevant":[51,235],"motor-controlling":[52,236],"neurons":[53,80,116,237],"shared":[55],"or":[56],"distinct.":[57],"Here,":[58],"we":[59],"used":[60],"MATR3":[62,104,111,129,152],"S85C":[63,105],"knock-in":[64],"(KI)":[65],"mouse":[66,222],"model":[67],"of":[68,78,123,151,170,186,232],"early-stage":[69],"ALS":[70],"with":[71,217],"stage-specific":[72],"phenotypes":[74],"selective":[76],"vulnerability":[77],"cells":[83,119,166],"decipher":[85],"underlying":[89],"two":[93],"neuronal":[94,171],"populations.":[95],"We":[96],"found":[97],"profound":[100],"reduction":[101],"detectable":[103,134],"immunoreactivity":[106],"(hereafter":[107],"referred":[108],"as":[110,131],"loss)":[112],"both":[114],"precedes":[120],"onset":[122,150,169],"dysfunction":[125],"neuropathology,":[127],"implicating":[128],"loss":[130,153,172],"earliest":[133],"event.":[136],"Our":[137,224],"bulk":[138],"RNA":[140,145],"profiling":[141,146],"neuron-specific":[144],"data":[147],"at":[148],"revealed":[154],"distinct":[155],"signatures.":[157],"In":[158,192],"cerebellum,":[160],"Ngfr":[161],"expression":[162,204],"emerged":[163],"before":[167],"remained":[174],"elevated":[175,196],"throughout":[176,213],"disease":[178,214],"course.":[179],"This":[180],"increase":[181],"was":[182],"accompanied":[183],"by":[184],"activation":[185],"JNK-mediated":[188],"cell":[189],"death":[190],"pathway.":[191],"neurons,":[195],"Fgf21":[197],"integrated":[199],"stress":[200],"response":[201],"(ISR)":[202],"gene":[203],"were":[205],"first":[207],"be":[209],"observed":[210],"persisted":[212],"progression,":[215],"consistent":[216],"previous":[218],"findings":[219,225],"SOD1":[221],"models.":[223],"provide":[226],"mechanistic":[227],"insights":[228],"into":[229],"initiation":[231],"implicate":[239],"potential":[240],"type-specific":[242],"targets":[243],"for":[244],"future":[245],"therapeutics.":[246]},"counts_by_year":[],"updated_date":"2026-11-09T13:22:03.289127","created_date":"2026-09-02T00:00:00"}