{"id":"https://openalex.org/W4415524876","doi":"https://doi.org/10.1186/s40478-026-02313-y","title":"Biallelic MCUR1 nonsense mutation associated with vacuolar myopathy and altered mitochondrial calcium signaling","display_name":"Biallelic MCUR1 nonsense mutation associated with vacuolar myopathy and altered mitochondrial calcium signaling","publication_year":2026,"publication_date":"2026-05-05","ids":{"openalex":"https://openalex.org/W4415524876","doi":"https://doi.org/10.1186/s40478-026-02313-y","pmid":"https://pubmed.ncbi.nlm.nih.gov/42087238","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13162457"},"language":"en","primary_location":{"id":"doi:10.1186/s40478-026-02313-y","doi":"https://doi.org/10.1186/s40478-026-02313-y","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s40478-026-02313-y","pdf_url":null,"source":{"id":"https://openalex.org/S2764650462","display_name":"Acta Neuropathologica Communications","issn_l":"2051-5960","issn":["2051-5960"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta Neuropathologica Communications","raw_type":"journal-article"},"volume":null,"type":"article","is_traditional":true,"indexed_in":["crossref","datacite","doaj","pubmed"],"open_access":{"is_oa":true,"oa_status":"gold","oa_url":"https://doi.org/10.1186/s40478-026-02313-y","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5019136111","display_name":"Anna Maria Haschke","orcid":"https://orcid.org/0000-0002-7629-0724","observed_orcids":["https://orcid.org/0000-0002-7629-0724"]},"institutions":[{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Anna Maria Haschke","raw_affiliation_strings":["Charite - Universtaetsmedizin Berlin, Germany;"],"raw_orcid":"https://orcid.org/0000-0002-7629-0724","affiliations":[{"raw_affiliation_string":"Charite - Universtaetsmedizin Berlin, Germany;","institution_ids":["https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5040369987","display_name":"Anja von Renesse","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Anja von Renesse","raw_affiliation_strings":["Charite - Universitaetsmedizin Berlin, Germany;"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Charite - Universitaetsmedizin Berlin, Germany;","institution_ids":["https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5093569006","display_name":"Eugenio Graceffo","orcid":"https://orcid.org/0000-0001-8316-1069","observed_orcids":["https://orcid.org/0000-0001-8316-1069"]},"institutions":[{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Eugenio Graceffo","raw_affiliation_strings":["Charite - Universitaetsmedizin Berlin, Germany;"],"raw_orcid":"https://orcid.org/0000-0001-8316-1069","affiliations":[{"raw_affiliation_string":"Charite - Universitaetsmedizin Berlin, Germany;","institution_ids":["https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5047730908","display_name":"Susanne Morales-Gonzalez","orcid":"https://orcid.org/0000-0001-7279-2092","observed_orcids":["https://orcid.org/0000-0001-7279-2092"]},"institutions":[{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Susanne Morales-Gonzalez","raw_affiliation_strings":["Charite - Universitaetsmedizin Berlin, Germany;"],"raw_orcid":"https://orcid.org/0000-0001-7279-2092","affiliations":[{"raw_affiliation_string":"Charite - Universitaetsmedizin Berlin, Germany;","institution_ids":["https://openalex.org/I7877124"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5000535666","display_name":"Alessandro Prigione","orcid":"https://orcid.org/0000-0001-9457-1952","observed_orcids":["https://orcid.org/0000-0001-9457-1952"]},"institutions":[{"id":"https://openalex.org/I4210089242","display_name":"D\u00fcsseldorf University Hospital","ror":"https://ror.org/006k2kk72","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I4210089242"]},{"id":"https://openalex.org/I44260953","display_name":"Heinrich Heine University D\u00fcsseldorf","ror":"https://ror.org/024z2rq82","country_code":"DE","type":"education","lineage":["https://openalex.org/I44260953"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Alessandro Prigione","raw_affiliation_strings":["University Hospital Duesseldorf, Heinrich Heine University, Germany"],"raw_orcid":"https://orcid.org/0000-0001-9457-1952","affiliations":[{"raw_affiliation_string":"University Hospital Duesseldorf, Heinrich Heine University, Germany","institution_ids":["https://openalex.org/I4210089242","https://openalex.org/I44260953"]}]},{"author_position":"middle","author":{"id":null,"display_name":"Christoph H\u00fcbner","orcid":null,"observed_orcids":[]},"institutions":[],"countries":[],"is_corresponding":false,"raw_author_name":"Christoph H\u00fcbner","raw_affiliation_strings":[],"raw_orcid":null,"affiliations":[]},{"author_position":"middle","author":{"id":"https://openalex.org/A5072825908","display_name":"Werner Stenzel","orcid":"https://orcid.org/0000-0002-1143-2103","observed_orcids":["https://orcid.org/0000-0002-1143-2103"]},"institutions":[{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":false,"raw_author_name":"Werner Stenzel","raw_affiliation_strings":["Charite - Universitaetsmedizin Berlin, Germany;"],"raw_orcid":"https://orcid.org/0000-0002-1143-2103","affiliations":[{"raw_affiliation_string":"Charite - Universitaetsmedizin Berlin, Germany;","institution_ids":["https://openalex.org/I7877124"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5052706487","display_name":"Markus Schuelke","orcid":"https://orcid.org/0000-0003-2824-3891","observed_orcids":["https://orcid.org/0000-0003-2824-3891"]},"institutions":[{"id":"https://openalex.org/I7877124","display_name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25","country_code":"DE","type":"healthcare","lineage":["https://openalex.org/I7877124"]}],"countries":["DE"],"is_corresponding":true,"raw_author_name":"Markus Schuelke","raw_affiliation_strings":["Charite - Universitaetsmedizin Berlin, Germany;"],"raw_orcid":"https://orcid.org/0000-0003-2824-3891","affiliations":[{"raw_affiliation_string":"Charite - Universitaetsmedizin Berlin, Germany;","institution_ids":["https://openalex.org/I7877124"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":3,"corresponding_author_ids":["https://openalex.org/A5052706487"],"corresponding_institution_ids":["https://openalex.org/I7877124"],"apc_list":{"value":3790,"currency":"USD","value_usd":3790},"apc_paid":{"value":3790,"currency":"USD","value_usd":3790},"fwci":0.0,"has_fulltext":true,"cited_by_count":0,"citation_normalized_percentile":{"value":0.0,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":null,"biblio":{"volume":"14","issue":"1","first_page":null,"last_page":null},"is_retracted":false,"is_paratext":false,"is_xpac":false,"primary_topic":{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9843999743461609,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},"topics":[{"id":"https://openalex.org/T10301","display_name":"Mitochondrial Function and Pathology","score":0.9843999743461609,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10441","display_name":"Muscle Physiology and Disorders","score":0.007699999958276749,"subfield":{"id":"https://openalex.org/subfields/1312","display_name":"Molecular Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}},{"id":"https://openalex.org/T10587","display_name":"Autophagy in Disease and Therapy","score":0.0017000000225380063,"subfield":{"id":"https://openalex.org/subfields/1307","display_name":"Cell Biology"},"field":{"id":"https://openalex.org/fields/13","display_name":"Biochemistry, Genetics and Molecular Biology"},"domain":{"id":"https://openalex.org/domains/1","display_name":"Life Sciences"}}],"keywords":[{"id":"https://openalex.org/keywords/mitochondrial-calcium-uniporter","display_name":"mitochondrial calcium uniporter","score":0.9610000252723694},{"id":"https://openalex.org/keywords/mitochondrial-calcium-uptake","display_name":"mitochondrial calcium uptake","score":0.7889999747276306},{"id":"https://openalex.org/keywords/vacuolar-myopathy","display_name":"vacuolar myopathy","score":0.9210000038146973},{"id":"https://openalex.org/keywords/autophagosomes","display_name":"autophagosomes","score":0.8809999823570251},{"id":"https://openalex.org/keywords/autophagy","display_name":"autophagy","score":0.7480000257492065},{"id":"https://openalex.org/keywords/mitochondrial-dysfunction","display_name":"mitochondrial dysfunction","score":0.7720000147819519},{"id":"https://openalex.org/keywords/proximal-muscle-weakness","display_name":"proximal muscle weakness","score":0.7730000019073486},{"id":"https://openalex.org/keywords/muscle-atrophy","display_name":"muscle atrophy","score":0.8270000219345093},{"id":"https://openalex.org/keywords/nonsense-mutation","display_name":"nonsense mutation","score":0.7009999752044678},{"id":"https://openalex.org/keywords/histamine","display_name":"histamine","score":0.6769999861717224},{"id":"https://openalex.org/keywords/lamp2","display_name":"LAMP2","score":0.8019999861717224},{"id":"https://openalex.org/keywords/lc3b","display_name":"LC3B","score":0.7910000085830688},{"id":"https://openalex.org/keywords/mitochondrial-disease","display_name":"mitochondrial disease","score":0.6240000128746033},{"id":"https://openalex.org/keywords/muscle-contraction","display_name":"muscle contraction","score":0.3070000112056732}],"concepts":[{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.6998999714851379},{"id":"https://openalex.org/C35341161","wikidata":"https://www.wikidata.org/wiki/Q289992","display_name":"Uniporter","level":4,"score":0.6902999877929688},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.6891000270843506},{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.5763999819755554},{"id":"https://openalex.org/C203522944","wikidata":"https://www.wikidata.org/wiki/Q288322","display_name":"Autophagy","level":3,"score":0.5162000060081482},{"id":"https://openalex.org/C98539663","wikidata":"https://www.wikidata.org/wiki/Q220599","display_name":"Cytosol","level":3,"score":0.4756999909877777},{"id":"https://openalex.org/C75385678","wikidata":"https://www.wikidata.org/wiki/Q4896390","display_name":"Inner mitochondrial membrane","level":3,"score":0.43799999356269836},{"id":"https://openalex.org/C2777229759","wikidata":"https://www.wikidata.org/wiki/Q6881848","display_name":"Mitochondrial biogenesis","level":3,"score":0.4375},{"id":"https://openalex.org/C2775833069","wikidata":"https://www.wikidata.org/wiki/Q6881881","display_name":"Mitochondrial myopathy","level":4,"score":0.43209999799728394},{"id":"https://openalex.org/C163950672","wikidata":"https://www.wikidata.org/wiki/Q14905375","display_name":"mitochondrial fusion","level":4,"score":0.42289999127388},{"id":"https://openalex.org/C83575541","wikidata":"https://www.wikidata.org/wiki/Q424021","display_name":"ATP\u2013ADP translocase","level":4,"score":0.4142000079154968},{"id":"https://openalex.org/C111491248","wikidata":"https://www.wikidata.org/wiki/Q18033821","display_name":"DNAJA3","level":5,"score":0.4068000018596649},{"id":"https://openalex.org/C519063684","wikidata":"https://www.wikidata.org/wiki/Q706","display_name":"Calcium","level":2,"score":0.40529999136924744},{"id":"https://openalex.org/C24586158","wikidata":"https://www.wikidata.org/wiki/Q27075","display_name":"Mitochondrial DNA","level":3,"score":0.3741999864578247},{"id":"https://openalex.org/C201571599","wikidata":"https://www.wikidata.org/wiki/Q5018840","display_name":"Calcium signaling","level":3,"score":0.3594000041484833},{"id":"https://openalex.org/C207200792","wikidata":"https://www.wikidata.org/wiki/Q428914","display_name":"Myocyte","level":2,"score":0.35690000653266907},{"id":"https://openalex.org/C2777614518","wikidata":"https://www.wikidata.org/wiki/Q935710","display_name":"Mitochondrial disease","level":4,"score":0.34380000829696655},{"id":"https://openalex.org/C2909765735","wikidata":"https://www.wikidata.org/wiki/Q4116663","display_name":"Muscle disorder","level":2,"score":0.3416000008583069},{"id":"https://openalex.org/C102568950","wikidata":"https://www.wikidata.org/wiki/Q127702","display_name":"Vacuole","level":3,"score":0.3384999930858612},{"id":"https://openalex.org/C2777300911","wikidata":"https://www.wikidata.org/wiki/Q692536","display_name":"Myopathy","level":2,"score":0.33250001072883606},{"id":"https://openalex.org/C2777092462","wikidata":"https://www.wikidata.org/wiki/Q15334407","display_name":"MFN2","level":5,"score":0.3118000030517578},{"id":"https://openalex.org/C173358068","wikidata":"https://www.wikidata.org/wiki/Q6881847","display_name":"Mitochondrial apoptosis-induced channel","level":4,"score":0.3111000061035156},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.30970001220703125},{"id":"https://openalex.org/C145488412","wikidata":"https://www.wikidata.org/wiki/Q425007","display_name":"Mitochondrial carrier","level":5,"score":0.3050999939441681},{"id":"https://openalex.org/C17619807","wikidata":"https://www.wikidata.org/wiki/Q6881852","display_name":"Mitochondrial fission","level":3,"score":0.2944999933242798},{"id":"https://openalex.org/C181911157","wikidata":"https://www.wikidata.org/wiki/Q389844","display_name":"Membrane potential","level":2,"score":0.29089999198913574},{"id":"https://openalex.org/C122229402","wikidata":"https://www.wikidata.org/wiki/Q5018802","display_name":"Calcium-binding protein","level":3,"score":0.2824000120162964},{"id":"https://openalex.org/C87975464","wikidata":"https://www.wikidata.org/wiki/Q910704","display_name":"Calcium metabolism","level":3,"score":0.28040000796318054},{"id":"https://openalex.org/C185592680","wikidata":"https://www.wikidata.org/wiki/Q2329","display_name":"Chemistry","level":0,"score":0.2784000039100647},{"id":"https://openalex.org/C2779959927","wikidata":"https://www.wikidata.org/wiki/Q1048687","display_name":"Skeletal muscle","level":2,"score":0.2759000062942505},{"id":"https://openalex.org/C191678065","wikidata":"https://www.wikidata.org/wiki/Q7905656","display_name":"V-ATPase","level":4,"score":0.26330000162124634},{"id":"https://openalex.org/C55493867","wikidata":"https://www.wikidata.org/wiki/Q7094","display_name":"Biochemistry","level":1,"score":0.2587999999523163},{"id":"https://openalex.org/C2777735026","wikidata":"https://www.wikidata.org/wiki/Q24724654","display_name":"Sodium-calcium exchanger","level":3,"score":0.25519999861717224},{"id":"https://openalex.org/C2781302388","wikidata":"https://www.wikidata.org/wiki/Q183453","display_name":"Cardiolipin","level":4,"score":0.2526000142097473},{"id":"https://openalex.org/C190062978","wikidata":"https://www.wikidata.org/wiki/Q79899","display_name":"Cytoplasm","level":2,"score":0.251800000667572}],"mesh":[{"descriptor_ui":"D001343","descriptor_name":"Autophagy","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false},{"descriptor_ui":"D002118","descriptor_name":"Calcium","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D005347","descriptor_name":"Fibroblasts","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D006801","descriptor_name":"Humans","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D008928","descriptor_name":"Mitochondria","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D009135","descriptor_name":"Muscular Diseases","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":true},{"descriptor_ui":"D015220","descriptor_name":"Calcium Channels","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D016464","descriptor_name":"Lysosomal Storage Diseases","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D018389","descriptor_name":"Codon, Nonsense","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D018482","descriptor_name":"Muscle, Skeletal","qualifier_ui":"Q000473","qualifier_name":"pathology","is_major_topic":false},{"descriptor_ui":"D020013","descriptor_name":"Calcium Signaling","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D053078","descriptor_name":"Membrane Potential, Mitochondrial","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false}],"locations_count":7,"locations":[{"id":"doi:10.1186/s40478-026-02313-y","doi":"https://doi.org/10.1186/s40478-026-02313-y","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s40478-026-02313-y","pdf_url":null,"source":{"id":"https://openalex.org/S2764650462","display_name":"Acta Neuropathologica Communications","issn_l":"2051-5960","issn":["2051-5960"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta Neuropathologica Communications","raw_type":"journal-article"},{"id":"doi:10.1101/2025.10.17.25338070","doi":"https://doi.org/10.1101/2025.10.17.25338070","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2025.10.17.25338070","pdf_url":null,"source":{"id":"https://openalex.org/S3005729997","display_name":"medRxiv","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":true,"listed_in":["cwts-core"],"host_organization":null,"host_organization_name":null,"host_organization_lineage":["https://openalex.org/P4310315909"],"host_organization_lineage_names":["Cold Spring Harbor Laboratory Press"],"type":"repository"},"license":"public-domain","license_id":"https://openalex.org/licenses/public-domain","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"medRxiv","raw_type":"posted-content"},{"id":"pmh:oai:pubmedcentral.nih.gov:13162457","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13162457/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13162457/pdf/","source":{"id":"https://openalex.org/S2764455111","display_name":"PubMed Central","issn_l":null,"issn":null,"is_oa":true,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":"other-oa","license_id":"https://openalex.org/licenses/other-oa","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta Neuropathol Commun","raw_type":"Text"},{"id":"pmid:42087238","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42087238","pdf_url":null,"source":{"id":"https://openalex.org/S4306525036","display_name":"PubMed","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I1299303238","host_organization_name":"National Institutes of Health","host_organization_lineage":["https://openalex.org/I1299303238"],"host_organization_lineage_names":[],"type":"repository"},"license":null,"license_id":null,"version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta neuropathologica communications","raw_type":"Journal Article"},{"id":"pmh:oai:doaj.org/article:04c43d96a23d45dfa1428b7174902932","doi":null,"is_oa":true,"landing_page_url":"https://doaj.org/article/04c43d96a23d45dfa1428b7174902932","pdf_url":null,"source":{"id":"https://openalex.org/S4306401280","display_name":"DOAJ (DOAJ: Directory of Open Access Journals)","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":null,"host_organization_name":null,"host_organization_lineage":[],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by-sa","license_id":"https://openalex.org/licenses/cc-by-sa","version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Acta Neuropathologica Communications, Vol 14, Iss 1 (2026)","raw_type":"article"},{"id":"doi:10.6084/m9.figshare.c.8470990","doi":"https://doi.org/10.6084/m9.figshare.c.8470990","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.c.8470990","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Collection"},{"id":"doi:10.6084/m9.figshare.c.8470990.v1","doi":"https://doi.org/10.6084/m9.figshare.c.8470990.v1","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.c.8470990.v1","pdf_url":null,"source":{"id":"https://openalex.org/S4377196282","display_name":"Figshare","issn_l":null,"issn":null,"is_oa":false,"is_in_doaj":false,"is_core":false,"listed_in":[],"host_organization":"https://openalex.org/I4210132348","host_organization_name":"Figshare (United Kingdom)","host_organization_lineage":["https://openalex.org/I4210132348"],"host_organization_lineage_names":[],"type":"repository"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":null,"is_accepted":false,"is_published":false,"raw_source_name":null,"raw_type":"Collection"}],"best_oa_location":{"id":"doi:10.1186/s40478-026-02313-y","doi":"https://doi.org/10.1186/s40478-026-02313-y","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s40478-026-02313-y","pdf_url":null,"source":{"id":"https://openalex.org/S2764650462","display_name":"Acta Neuropathologica Communications","issn_l":"2051-5960","issn":["2051-5960"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-b","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-140","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310319900","host_organization_name":"Springer Science+Business Media","host_organization_lineage":["https://openalex.org/P4310319900","https://openalex.org/P4310319965"],"host_organization_lineage_names":["Springer Science+Business Media","Springer Nature"],"type":"journal"},"license":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"Acta Neuropathologica Communications","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","id":"https://metadata.un.org/sdg/3","score":0.8560000061988831}],"study_designs":[{"display_name":"Case Report","id":"https://openalex.org/study-designs/case-report"}],"awards":[],"funders":[{"id":"https://openalex.org/F4320308306","display_name":"Muscular Dystrophy Association","ror":"https://ror.org/01frxsf98"},{"id":"https://openalex.org/F4320320879","display_name":"Deutsche Forschungsgemeinschaft","ror":"https://ror.org/018mejw64"},{"id":"https://openalex.org/F4320321526","display_name":"Charit\u00e9 \u2013 Universit\u00e4tsmedizin Berlin","ror":"https://ror.org/001w7jn25"},{"id":"https://openalex.org/F4320329648","display_name":"NeuroCure Exzellenzcluster","ror":"https://ror.org/0188nsq50"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W4415524876.pdf","grobid_xml":"https://content.openalex.org/works/W4415524876.grobid-xml"},"referenced_works_count":40,"referenced_works":["https://openalex.org/W1488216507","https://openalex.org/W1504637311","https://openalex.org/W1816138368","https://openalex.org/W1866433599","https://openalex.org/W1970413157","https://openalex.org/W1986213783","https://openalex.org/W1999911038","https://openalex.org/W2005641666","https://openalex.org/W2016024763","https://openalex.org/W2039474189","https://openalex.org/W2050464935","https://openalex.org/W2067678773","https://openalex.org/W2067841051","https://openalex.org/W2084281549","https://openalex.org/W2086262648","https://openalex.org/W2104005232","https://openalex.org/W2108234281","https://openalex.org/W2145623220","https://openalex.org/W2169456326","https://openalex.org/W2363363069","https://openalex.org/W2432815617","https://openalex.org/W2733684981","https://openalex.org/W2748821417","https://openalex.org/W2888403478","https://openalex.org/W2891141193","https://openalex.org/W2950221693","https://openalex.org/W2982398009","https://openalex.org/W2983019352","https://openalex.org/W2997022986","https://openalex.org/W4220735204","https://openalex.org/W4225286473","https://openalex.org/W4252911401","https://openalex.org/W4281906294","https://openalex.org/W4285795034","https://openalex.org/W4289883606","https://openalex.org/W4311436859","https://openalex.org/W4391293816","https://openalex.org/W4391607307","https://openalex.org/W4404747328","https://openalex.org/W4406213794"],"related_works":["https://openalex.org/W7160943974","https://openalex.org/W7160939904","https://openalex.org/W4252911401","https://openalex.org/W3120439041","https://openalex.org/W2982398009","https://openalex.org/W2331595940","https://openalex.org/W2084281549","https://openalex.org/W4205221612","https://openalex.org/W2583026377","https://openalex.org/W3016602547"],"abstract_inverted_index":{"Abstract":[0],"During":[1],"muscle":[2,79,105,113],"contraction,":[3],"increased":[4,143],"influx":[5],"of":[6,40,86,104,183,195],"calcium":[7,19,23,46,131],"from":[8],"the":[9,13,17,34,44,101,145,148,161,180,193],"myocyte":[10],"cytosol":[11],"into":[12],"mitochondrial":[14,18,36,45,163,172,189,196],"matrix":[15],"through":[16],"uniporter":[20,47],"(MCU)":[21],"links":[22],"homeostasis":[24],"with":[25,69,77,89,171],"high":[26],"ATP":[27],"provision.":[28],"The":[29],"MCU":[30],"is":[31],"located":[32],"at":[33],"inner":[35],"membrane":[37,164],"and":[38,81,111,135,174,191],"one":[39],"its":[41,52,157],"structural":[42],"components,":[43],"regulator":[48],"1":[49],"(MCUR1),":[50],"promotes":[51],"activity.":[53],"Although":[54],"MCUR1":[55,96,115,149,169],"function":[56,190],"has":[57],"been":[58,67,123],"studied":[59],"in":[60,144,187,198],"cell":[61],"models,":[62],"mutations":[63],"have":[64],"not":[65,152],"yet":[66],"associated":[68],"human":[70],"disease.":[71],"Here,":[72],"we":[73,107],"present":[74],"a":[75,94],"patient":[76,109],"proximal":[78],"weakness":[80],"atrophy,":[82],"showing":[83],"histological":[84],"features":[85],"autophagic":[87,175],"vacuoles":[88],"sarcolemmal":[90],"features,":[91],"who":[92],"carries":[93],"homozygous":[95],"nonsense":[97],"mutation.":[98],"To":[99],"investigate":[100],"underlying":[102],"mechanisms":[103],"pathology,":[106],"examined":[108],"fibroblasts":[110],"quadriceps":[112],"specimens.":[114],"deficiency":[116,170],"compromised":[117],"mtCa":[118,184],"2+":[119,185],"uptake,":[120],"that":[121],"had":[122],"stimulated":[124],"both":[125],"by":[126],"histamine":[127],"or":[128,156],"rising":[129],"extracellular":[130],"exposure.":[132],"Autophagic":[133],"flux":[134],"histologic":[136],"markers":[137],"for":[138],"autophagy":[139],"(LAMP2,":[140],"LCB3)":[141],"were":[142],"patient.":[146],"However,":[147],"mutation":[150],"did":[151],"alter":[153],"MCU-complex":[154],"assembly":[155],"subcellular":[158],"location,":[159],"nor":[160],"resting":[162],"potential.":[165],"Our":[166],"study":[167],"associates":[168],"dysfunction":[173],"vacuolar":[176],"myopathy,":[177],"thereby":[178],"highlighting":[179],"crucial":[181],"role":[182],"uptake":[186],"regulating":[188],"expanding":[192],"spectrum":[194],"disorders":[197],"humans.":[199]},"counts_by_year":[],"updated_date":"2026-11-11T12:16:26.678958","created_date":"2025-10-24T00:00:00"}
