{"id":"https://openalex.org/W7165962070","doi":"https://doi.org/10.1186/s11689-026-09713-0","title":"DRP1 mutations associated with EMPF1 encephalopathy perturb the transcriptional profile and maturation of cortical neurons","display_name":"DRP1 mutations associated with EMPF1 encephalopathy perturb the transcriptional profile and maturation of cortical neurons","publication_year":2026,"publication_date":"2026-06-26","ids":{"openalex":"https://openalex.org/W7165962070","doi":"https://doi.org/10.1186/s11689-026-09713-0","pmid":"https://pubmed.ncbi.nlm.nih.gov/42350961","pmcid":"https://www.ncbi.nlm.nih.gov/pmc/articles/13563865"},"language":"en","primary_location":{"id":"doi:10.1186/s11689-026-09713-0","doi":"https://doi.org/10.1186/s11689-026-09713-0","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s11689-026-09713-0","pdf_url":null,"source":{"id":"https://openalex.org/S206192428","display_name":"Journal of Neurodevelopmental Disorders","issn_l":"1866-1947","issn":["1866-1947","1866-1955"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","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":"Journal of Neurodevelopmental Disorders","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/s11689-026-09713-0","any_repository_has_fulltext":true},"authorships":[{"author_position":"first","author":{"id":"https://openalex.org/A5139305851","display_name":"T. B. Baum","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"T. B. Baum","raw_affiliation_strings":["Vanderbilt University, Cell and Developmental Biology and Vanderbilt Center for Stem Cell Biology, Nashville, TN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Vanderbilt University, Cell and Developmental Biology and Vanderbilt Center for Stem Cell Biology, Nashville, TN, USA","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5139375744","display_name":"J. Costanzo","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"J. Costanzo","raw_affiliation_strings":["Vanderbilt University, Cell and Developmental Biology and Vanderbilt Center for Stem Cell Biology, Nashville, TN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Vanderbilt University, Cell and Developmental Biology and Vanderbilt Center for Stem Cell Biology, Nashville, TN, USA","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5139345508","display_name":"C. Bodnya","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"C. Bodnya","raw_affiliation_strings":["Vanderbilt University, Cell and Developmental Biology and Vanderbilt Center for Stem Cell Biology, Nashville, TN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Vanderbilt University, Cell and Developmental Biology and Vanderbilt Center for Stem Cell Biology, Nashville, TN, USA","institution_ids":["https://openalex.org/I200719446"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5139311433","display_name":"D. P. Boulton","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I51713134","display_name":"University of Colorado Anschutz","ror":"https://ror.org/03wmf1y16","country_code":"US","type":"education","lineage":["https://openalex.org/I51713134"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D. P. Boulton","raw_affiliation_strings":["Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA","institution_ids":["https://openalex.org/I51713134"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5139354599","display_name":"M. C. Caino","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I51713134","display_name":"University of Colorado Anschutz","ror":"https://ror.org/03wmf1y16","country_code":"US","type":"education","lineage":["https://openalex.org/I51713134"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"M. C. Caino","raw_affiliation_strings":["Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Department of Pharmacology, University of Colorado Anschutz Medical Campus, Aurora, CO, USA","institution_ids":["https://openalex.org/I51713134"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5139306485","display_name":"D. Mogilenko","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I901861585","display_name":"Vanderbilt University Medical Center","ror":"https://ror.org/05dq2gs74","country_code":"US","type":"healthcare","lineage":["https://openalex.org/I4210162197","https://openalex.org/I901861585"]}],"countries":["US"],"is_corresponding":false,"raw_author_name":"D. Mogilenko","raw_affiliation_strings":["Vanderbilt University Medical Center, Nashville, TN, USA"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Vanderbilt University Medical Center, Nashville, TN, USA","institution_ids":["https://openalex.org/I901861585"]}]},{"author_position":"middle","author":{"id":"https://openalex.org/A5139344160","display_name":"A. Zhelonkin","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I40347166","display_name":"University of Chicago","ror":"https://ror.org/024mw5h28","country_code":"US","type":"education","lineage":["https://openalex.org/I40347166"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"A. Zhelonkin","raw_affiliation_strings":["Ben May Department for Cancer Research, University of Chicago, Chicago, IL, USA. antonz@uchicago.edu"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Ben May Department for Cancer Research, University of Chicago, Chicago, IL, USA. antonz@uchicago.edu","institution_ids":["https://openalex.org/I40347166"]}]},{"author_position":"last","author":{"id":"https://openalex.org/A5139387021","display_name":"V. Gama","orcid":null,"observed_orcids":[]},"institutions":[{"id":"https://openalex.org/I200719446","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34","country_code":"US","type":"education","lineage":["https://openalex.org/I200719446"]}],"countries":["US"],"is_corresponding":true,"raw_author_name":"V. Gama","raw_affiliation_strings":["Vanderbilt University, Cell and Developmental Biology and Vanderbilt Center for Stem Cell Biology, Nashville, TN, USA. vivian.gama@vanderbilt.edu"],"raw_orcid":null,"affiliations":[{"raw_affiliation_string":"Vanderbilt University, Cell and Developmental Biology and Vanderbilt Center for Stem Cell Biology, Nashville, TN, USA. vivian.gama@vanderbilt.edu","institution_ids":["https://openalex.org/I200719446"]}]}],"institutions":[],"countries_distinct_count":1,"institutions_distinct_count":4,"corresponding_author_ids":["https://openalex.org/A5139344160","https://openalex.org/A5139387021"],"corresponding_institution_ids":["https://openalex.org/I200719446","https://openalex.org/I40347166"],"apc_list":{"value":2990,"currency":"USD","value_usd":2990},"apc_paid":{"value":2990,"currency":"USD","value_usd":2990},"fwci":2.6048,"has_fulltext":true,"cited_by_count":5,"citation_normalized_percentile":{"value":0.85766352,"is_in_top_1_percent":false,"is_in_top_10_percent":false},"cited_by_percentile_year":{"min":95,"max":96},"biblio":{"volume":"18","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":0.9750999808311462,"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":0.9750999808311462,"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/T11772","display_name":"Genetics and Neurodevelopmental Disorders","score":0.01759999990463257,"subfield":{"id":"https://openalex.org/subfields/1311","display_name":"Genetics"},"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/T10608","display_name":"Neurogenesis and neuroplasticity mechanisms","score":0.0008999999845400453,"subfield":{"id":"https://openalex.org/subfields/2806","display_name":"Developmental 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/drp1","display_name":"Drp1","score":0.9049999713897705},{"id":"https://openalex.org/keywords/mitochondrial-fission","display_name":"mitochondrial fission","score":0.871999979019165},{"id":"https://openalex.org/keywords/mitochondrial-motility","display_name":"mitochondrial motility","score":0.8799999952316284},{"id":"https://openalex.org/keywords/synaptic-development","display_name":"synaptic development","score":0.7879999876022339},{"id":"https://openalex.org/keywords/calcium-dynamics","display_name":"calcium dynamics","score":0.8389999866485596},{"id":"https://openalex.org/keywords/gene-expression-profiling","display_name":"gene expression profiling","score":0.6039999723434448},{"id":"https://openalex.org/keywords/ipsc-derived-neurons","display_name":"iPSC-derived neurons","score":0.7929999828338623},{"id":"https://openalex.org/keywords/gtpase-domain","display_name":"GTPase domain","score":0.7699999809265137},{"id":"https://openalex.org/keywords/stalk-domain","display_name":"stalk domain","score":0.9559999704360962},{"id":"https://openalex.org/keywords/mitochondrial-hyperfusion","display_name":"mitochondrial hyperfusion","score":0.6000000238418579},{"id":"https://openalex.org/keywords/neurodevelopmental-disorders","display_name":"neurodevelopmental disorders","score":0.7649999856948853},{"id":"https://openalex.org/keywords/epileptic-encephalopathy","display_name":"epileptic encephalopathy","score":0.7789999842643738}],"concepts":[{"id":"https://openalex.org/C86803240","wikidata":"https://www.wikidata.org/wiki/Q420","display_name":"Biology","level":0,"score":0.7617999911308289},{"id":"https://openalex.org/C207332259","wikidata":"https://www.wikidata.org/wiki/Q769143","display_name":"GTPase","level":2,"score":0.70169997215271},{"id":"https://openalex.org/C17619807","wikidata":"https://www.wikidata.org/wiki/Q6881852","display_name":"Mitochondrial fission","level":3,"score":0.6061999797821045},{"id":"https://openalex.org/C107459253","wikidata":"https://www.wikidata.org/wiki/Q674925","display_name":"Induced pluripotent stem cell","level":4,"score":0.5964999794960022},{"id":"https://openalex.org/C2777324860","wikidata":"https://www.wikidata.org/wiki/Q18034992","display_name":"DNM1L","level":4,"score":0.5019000172615051},{"id":"https://openalex.org/C169760540","wikidata":"https://www.wikidata.org/wiki/Q207011","display_name":"Neuroscience","level":1,"score":0.46470001339912415},{"id":"https://openalex.org/C28859421","wikidata":"https://www.wikidata.org/wiki/Q39572","display_name":"Mitochondrion","level":2,"score":0.4359000027179718},{"id":"https://openalex.org/C95444343","wikidata":"https://www.wikidata.org/wiki/Q7141","display_name":"Cell biology","level":1,"score":0.4348999857902527},{"id":"https://openalex.org/C143065580","wikidata":"https://www.wikidata.org/wiki/Q3285695","display_name":"Mutant","level":3,"score":0.4187999963760376},{"id":"https://openalex.org/C127716648","wikidata":"https://www.wikidata.org/wiki/Q104053","display_name":"Phenotype","level":3,"score":0.3695000112056732},{"id":"https://openalex.org/C501734568","wikidata":"https://www.wikidata.org/wiki/Q42918","display_name":"Mutation","level":3,"score":0.36169999837875366},{"id":"https://openalex.org/C2781041448","wikidata":"https://www.wikidata.org/wiki/Q75839","display_name":"Cerebral cortex","level":2,"score":0.3398999869823456},{"id":"https://openalex.org/C2777092462","wikidata":"https://www.wikidata.org/wiki/Q15334407","display_name":"MFN2","level":5,"score":0.3314000070095062},{"id":"https://openalex.org/C2780298669","wikidata":"https://www.wikidata.org/wiki/Q415071","display_name":"Small GTPase","level":3,"score":0.31200000643730164},{"id":"https://openalex.org/C104317684","wikidata":"https://www.wikidata.org/wiki/Q7187","display_name":"Gene","level":2,"score":0.31119999289512634},{"id":"https://openalex.org/C15526883","wikidata":"https://www.wikidata.org/wiki/Q6657126","display_name":"Live cell imaging","level":3,"score":0.29179999232292175},{"id":"https://openalex.org/C54355233","wikidata":"https://www.wikidata.org/wiki/Q7162","display_name":"Genetics","level":1,"score":0.2745000123977661},{"id":"https://openalex.org/C201571599","wikidata":"https://www.wikidata.org/wiki/Q5018840","display_name":"Calcium signaling","level":3,"score":0.27320000529289246},{"id":"https://openalex.org/C75563809","wikidata":"https://www.wikidata.org/wiki/Q2656896","display_name":"Missense mutation","level":4,"score":0.2685000002384186},{"id":"https://openalex.org/C163950672","wikidata":"https://www.wikidata.org/wiki/Q14905375","display_name":"mitochondrial fusion","level":4,"score":0.26019999384880066},{"id":"https://openalex.org/C183074962","wikidata":"https://www.wikidata.org/wiki/Q213713","display_name":"Developmental biology","level":2,"score":0.25690001249313354}],"mesh":[{"descriptor_ui":"D000099203","descriptor_name":"Neurodevelopment","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D001927","descriptor_name":"Brain Diseases","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D002478","descriptor_name":"Cells, Cultured","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D002540","descriptor_name":"Cerebral Cortex","qualifier_ui":"Q000254","qualifier_name":"growth & development","is_major_topic":true},{"descriptor_ui":"D002540","descriptor_name":"Cerebral Cortex","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"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":false},{"descriptor_ui":"D009154","descriptor_name":"Mutation","qualifier_ui":null,"qualifier_name":null,"is_major_topic":false},{"descriptor_ui":"D009474","descriptor_name":"Neurons","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":true},{"descriptor_ui":"D034281","descriptor_name":"Dynamins","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":true},{"descriptor_ui":"D057026","descriptor_name":"Induced Pluripotent Stem Cells","qualifier_ui":"Q000378","qualifier_name":"metabolism","is_major_topic":false},{"descriptor_ui":"D063154","descriptor_name":"Mitochondrial Dynamics","qualifier_ui":"Q000235","qualifier_name":"genetics","is_major_topic":false}],"locations_count":9,"locations":[{"id":"doi:10.1186/s11689-026-09713-0","doi":"https://doi.org/10.1186/s11689-026-09713-0","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s11689-026-09713-0","pdf_url":null,"source":{"id":"https://openalex.org/S206192428","display_name":"Journal of Neurodevelopmental Disorders","issn_l":"1866-1947","issn":["1866-1947","1866-1955"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","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":"Journal of Neurodevelopmental Disorders","raw_type":"journal-article"},{"id":"doi:10.1101/2024.08.23.609462","doi":"https://doi.org/10.1101/2024.08.23.609462","is_oa":true,"landing_page_url":"https://doi.org/10.1101/2024.08.23.609462","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"},{"id":"pmh:oai:pubmedcentral.nih.gov:13563865","doi":null,"is_oa":true,"landing_page_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13563865/","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC13563865/pdf/11689_2026_Article_9713.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":"cc-by","license_id":"https://openalex.org/licenses/cc-by","version":"publishedVersion","is_accepted":true,"is_published":true,"raw_source_name":"J Neurodev Disord","raw_type":"Text"},{"id":"pmid:39229012","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/39229012","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":"bioRxiv : the preprint server for biology","raw_type":"Journal Article"},{"id":"pmid:42350961","doi":null,"is_oa":false,"landing_page_url":"https://pubmed.ncbi.nlm.nih.gov/42350961","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":"Journal of neurodevelopmental disorders","raw_type":"Journal Article"},{"id":"pmh:oai:pubmedcentral.nih.gov:11370610","doi":null,"is_oa":true,"landing_page_url":"https://www.ncbi.nlm.nih.gov/pmc/articles/11370610","pdf_url":"https://pmc.ncbi.nlm.nih.gov/articles/PMC11370610/pdf/nihpp-2024.08.23.609462v2.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":"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":"Text"},{"id":"pmh:oai:doaj.org/article:47c383c333084df197f8c57daad48a9d","doi":null,"is_oa":false,"landing_page_url":"https://doaj.org/article/47c383c333084df197f8c57daad48a9d","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":null,"license_id":null,"version":"submittedVersion","is_accepted":false,"is_published":false,"raw_source_name":"Journal of Neurodevelopmental Disorders, Vol 18, Iss 1 (2026)","raw_type":"article"},{"id":"doi:10.6084/m9.figshare.c.8707212","doi":"https://doi.org/10.6084/m9.figshare.c.8707212","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.c.8707212","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.8707212.v1","doi":"https://doi.org/10.6084/m9.figshare.c.8707212.v1","is_oa":true,"landing_page_url":"https://doi.org/10.6084/m9.figshare.c.8707212.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/s11689-026-09713-0","doi":"https://doi.org/10.1186/s11689-026-09713-0","is_oa":true,"landing_page_url":"https://doi.org/10.1186/s11689-026-09713-0","pdf_url":null,"source":{"id":"https://openalex.org/S206192428","display_name":"Journal of Neurodevelopmental Disorders","issn_l":"1866-1947","issn":["1866-1947","1866-1955"],"is_oa":true,"is_in_doaj":true,"is_core":true,"listed_in":["cwts-core","doaj","dongbi-c","doyens","jufo-1","ki-jl-1","medline","norway-1","oarl","poland-100","russia-white-list-1","vabb-shw"],"host_organization":"https://openalex.org/P4310320256","host_organization_name":"BioMed Central","host_organization_lineage":["https://openalex.org/P4310320256","https://openalex.org/P4310319965"],"host_organization_lineage_names":["BioMed Central","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":"Journal of Neurodevelopmental Disorders","raw_type":"journal-article"},"sustainable_development_goals":[{"display_name":"Good health and well-being","score":0.8048999905586243,"id":"https://metadata.un.org/sdg/3"}],"study_designs":[],"awards":[{"id":"https://openalex.org/G2531140802","display_name":"Acquisition of a super-resolution optical microscope","funder_award_id":"S10OD012324","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G4701524463","display_name":"LSM880-Airyscan Confocal Microscope for Large Shared Resource","funder_award_id":"S10OD021630","funder_id":"https://openalex.org/F4320332161","funder_display_name":"National Institutes of Health"},{"id":"https://openalex.org/G4725597257","display_name":"Overall: Eunice Kennedy Shriver Intellectual and Developmental Disabilities Research Center at Vanderbilt","funder_award_id":"P50HD103537","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G9000856659","display_name":"Understanding the effects of mitochondrial fission disruption during early cortical development","funder_award_id":"F31NS129296","funder_id":"https://openalex.org/F4320337359","funder_display_name":"National Institute of Neurological Disorders and Stroke"},{"id":"https://openalex.org/G9000857873","display_name":"Examining the Impact of Peroxisomal Fission on Cell Fate Decisions During Neurodevelopment","funder_award_id":"F31HD114431","funder_id":"https://openalex.org/F4320337611","funder_display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development"},{"id":"https://openalex.org/G9000899684","display_name":"Regulation of mitochondrial dynamics pathways in mammalian cells","funder_award_id":"R35GM142774","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"},{"id":"https://openalex.org/G9000908201","display_name":"Molecular Principles Governing Mitochondrial and Peroxisomal Remodeling as Drivers of Cell Fate and Identity","funder_award_id":"R35GM128915","funder_id":"https://openalex.org/F4320337354","funder_display_name":"National Institute of General Medical Sciences"}],"funders":[{"id":"https://openalex.org/F4320309151","display_name":"Vanderbilt University","ror":"https://ror.org/02vm5rt34"},{"id":"https://openalex.org/F4320332161","display_name":"National Institutes of Health","ror":"https://ror.org/01cwqze88"},{"id":"https://openalex.org/F4320337354","display_name":"National Institute of General Medical Sciences","ror":"https://ror.org/04q48ey07"},{"id":"https://openalex.org/F4320337359","display_name":"National Institute of Neurological Disorders and Stroke","ror":"https://ror.org/01s5ya894"},{"id":"https://openalex.org/F4320337611","display_name":"Eunice Kennedy Shriver National Institute of Child Health and Human Development","ror":"https://ror.org/04byxyr05"}],"has_content":{"pdf":true,"grobid_xml":true},"content_urls":{"pdf":"https://content.openalex.org/works/W7165962070.pdf","grobid_xml":"https://content.openalex.org/works/W7165962070.grobid-xml"},"referenced_works_count":89,"referenced_works":["https://openalex.org/W1484225186","https://openalex.org/W1845163922","https://openalex.org/W1965909109","https://openalex.org/W1968522541","https://openalex.org/W1970692324","https://openalex.org/W1975930481","https://openalex.org/W1989536296","https://openalex.org/W1990737844","https://openalex.org/W1997258848","https://openalex.org/W2000209446","https://openalex.org/W2008586628","https://openalex.org/W2011965698","https://openalex.org/W2018710502","https://openalex.org/W2020023492","https://openalex.org/W2026709267","https://openalex.org/W2028133290","https://openalex.org/W2035618305","https://openalex.org/W2047460306","https://openalex.org/W2048575097","https://openalex.org/W2050315656","https://openalex.org/W2059048039","https://openalex.org/W2060412325","https://openalex.org/W2065661471","https://openalex.org/W2082314612","https://openalex.org/W2085341005","https://openalex.org/W2087269779","https://openalex.org/W2087786585","https://openalex.org/W2094162211","https://openalex.org/W2103017472","https://openalex.org/W2108234281","https://openalex.org/W2112546324","https://openalex.org/W2114104545","https://openalex.org/W2117664079","https://openalex.org/W2127982146","https://openalex.org/W2131271579","https://openalex.org/W2137586531","https://openalex.org/W2138207763","https://openalex.org/W2146512944","https://openalex.org/W2150737519","https://openalex.org/W2150924058","https://openalex.org/W2153456027","https://openalex.org/W2159707944","https://openalex.org/W2169456326","https://openalex.org/W2194627715","https://openalex.org/W2214074259","https://openalex.org/W2218964288","https://openalex.org/W2266046252","https://openalex.org/W2269380762","https://openalex.org/W2402960573","https://openalex.org/W2429031812","https://openalex.org/W2432815617","https://openalex.org/W2493737149","https://openalex.org/W2765661779","https://openalex.org/W2787269337","https://openalex.org/W2803681151","https://openalex.org/W2806136769","https://openalex.org/W2887502269","https://openalex.org/W2912983212","https://openalex.org/W2948949781","https://openalex.org/W2949642444","https://openalex.org/W2990011524","https://openalex.org/W3016741145","https://openalex.org/W3034341079","https://openalex.org/W3048827593","https://openalex.org/W3099862724","https://openalex.org/W3106539179","https://openalex.org/W3114780609","https://openalex.org/W3115067460","https://openalex.org/W3136478187","https://openalex.org/W3165484394","https://openalex.org/W3175752499","https://openalex.org/W3182556863","https://openalex.org/W4223923090","https://openalex.org/W4283012766","https://openalex.org/W4294216483","https://openalex.org/W4295888537","https://openalex.org/W4318263660","https://openalex.org/W4319946271","https://openalex.org/W4362664282","https://openalex.org/W4386700157","https://openalex.org/W4387001827","https://openalex.org/W4388539880","https://openalex.org/W4391786421","https://openalex.org/W4399887969","https://openalex.org/W4400033825","https://openalex.org/W4400735087","https://openalex.org/W4406778273","https://openalex.org/W4409007967","https://openalex.org/W7135075568"],"related_works":["https://openalex.org/W4401864624","https://openalex.org/W7212276643","https://openalex.org/W7212315369","https://openalex.org/W7212302238","https://openalex.org/W7212235652","https://openalex.org/W7212281586","https://openalex.org/W7212218839","https://openalex.org/W7212322705","https://openalex.org/W7212281546","https://openalex.org/W7212321134"],"abstract_inverted_index":{"With":[0],"the":[1,20,27,67,73,97,111],"advent":[2],"of":[3,9,72,86,99,120,128,139,146,163,176,202],"exome":[4],"sequencing,":[5],"a":[6],"growing":[7],"number":[8],"children":[10],"are":[11],"being":[12],"identified":[13,81],"with":[14],"de":[15],"novo":[16],"loss-of-function":[17],"mutations":[18,82,108],"in":[19,39,42,83,109,123,130,136,157,167,179,194],"dynamin":[21],"1-like":[22],"(DNM1L)":[23],"gene,":[24],"which":[25],"encodes":[26],"large":[28],"GTPase":[29,112],"essential":[30,64],"for":[31],"mitochondrial":[32,60,137,142,192],"fission,":[33],"dynamin-related":[34],"protein":[35],"1":[36],"(DRP1).":[37],"Mutations":[38],"DRP1":[40,87,107,148,183,195],"result":[41],"severe":[43],"neurodevelopmental":[44],"phenotypes,":[45],"such":[46],"as":[47],"developmental":[48],"delay,":[49],"optic":[50],"atrophy,":[51],"and":[52,92,160,205],"epileptic":[53],"encephalopathies.":[54],"Though":[55],"it":[56,76],"is":[57,62,77],"established":[58],"that":[59,190],"fission":[61],"an":[63],"precursor":[65],"to":[66,116,199],"rapidly":[68],"changing":[69],"metabolic":[70],"needs":[71],"developing":[74],"cortex,":[75],"not":[78],"understood":[79],"how":[80],"different":[84],"domains":[85,115],"uniquely":[88],"disrupt":[89],"cortical":[90,121,149,184],"development":[91,122,159,204],"synaptic":[93,158,203],"maturation.":[94],"We":[95],"leveraged":[96],"power":[98],"human":[100],"induced":[101],"pluripotent":[102],"stem":[103],"cells":[104],"(iPSCs)":[105],"harboring":[106],"either":[110],"or":[113],"stalk":[114],"model":[117],"early":[118],"stages":[119],"vitro.":[124],"High-resolution":[125],"time-lapse":[126],"imaging":[127],"transport":[129],"neuronal":[131],"projections":[132],"revealed":[133],"mutation-specific":[134],"changes":[135],"motility":[138],"severely":[140],"hyperfused":[141],"structures.":[143],"Transcriptional":[144],"profiling":[145],"mutant":[147,182,196],"neurons":[150,197],"during":[151],"maturation":[152],"also":[153],"implicated":[154],"mutation-dependent":[155],"alterations":[156],"gene":[161],"expression":[162],"calcium-regulatory":[164],"genes.":[165],"Disruptions":[166],"calcium":[168],"dynamics":[169],"were":[170],"confirmed":[171],"using":[172],"live":[173],"functional":[174],"recordings":[175],"65-200":[177],"days":[178],"vitro":[180],"(DIV)":[181],"neurons.":[185],"These":[186],"findings":[187],"strongly":[188],"suggest":[189],"altered":[191],"morphology":[193],"leads":[198],"pathogenic":[200],"dysregulation":[201],"activity.":[206]},"counts_by_year":[{"year":2026,"cited_by_count":2},{"year":2025,"cited_by_count":3}],"updated_date":"2026-11-12T12:28:57.059296","created_date":"2026-06-26T00:00:00"}