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VPS13D encodes a cytoplasmic lipid transfer protein that regulates mitochondrial morphology, mitochondria and endoplasmic reticulum contact, and quality control of mitochondria. VPS13D mutations have been reported in patients displaying ataxic and spastic gait disorders with variable age of onset. Here, we used CRISPR\/Cas9 gene editing to create VPS13D-related spinocerebellar ataxia-4 missense mutations and C-terminal deletion in VPS13D's ortholog vps-13D in Caenorhabditis elegans. Consistent with SCAR4 patient movement disorders and mitochondrial dysfunction, vps-13D mutant worms exhibit locomotion defects and abnormal mitochondrial morphology. Importantly, animals with a vps-13D deletion or a N3017I missense mutation exhibited an increase in mitochondrial unfolded protein response. The cellular and behavioral changes caused by VPS13D mutations in C. elegans advance the development of animal models that are needed to study SCAR4 pathogenesis.<\/jats:p>","DOI":"10.1093\/g3journal\/jkaf023","type":"journal-article","created":{"date-parts":[[2025,2,17]],"date-time":"2025-02-17T02:41:47Z","timestamp":1739760107000},"source":"Crossref","is-referenced-by-count":1,"title":["<i>VPS13D<\/i>\n                    mutations affect mitochondrial homeostasis and locomotion in\n                    <i>Caenorhabditis elegans<\/i>"],"prefix":"10.1093","volume":"15","author":[{"given":"Xiaomeng","family":"Yin","sequence":"first","affiliation":[{"name":"Department of Neurobiology, University of Massachusetts Chan Medical School, University of Massachusetts , Worcester, MA 01605 ,","place":["USA"]},{"name":"Department of Molecular, Cell and Cancer Biology, University of Massachusetts Chan Medical School, University of Massachusetts , Worcester, MA 01605 ,","place":["USA"]},{"name":"School of Life Sciences, Southern University of Science and Technology , Shenzhen 518055 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ruoxi","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Molecular, Cell and Cancer Biology, University of Massachusetts Chan Medical School, University of Massachusetts , Worcester, MA 01605 ,","place":["USA"]},{"name":"School of Life Sciences, Southern University of Science and Technology , Shenzhen 518055 ,","place":["China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Thackeray","sequence":"additional","affiliation":[{"name":"Department of Neurobiology, University of Massachusetts Chan Medical School, University of Massachusetts , Worcester, MA 01605 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eric H","family":"Baehrecke","sequence":"additional","affiliation":[{"name":"Department of Molecular, Cell and Cancer Biology, University of Massachusetts Chan Medical School, University of Massachusetts , Worcester, MA 01605 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1311-5179","authenticated-orcid":false,"given":"Mark J","family":"Alkema","sequence":"additional","affiliation":[{"name":"Department of Neurobiology, University of Massachusetts Chan Medical School, University of Massachusetts , Worcester, MA 01605 ,","place":["USA"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2025,2,17]]},"reference":[{"key":"2025041811264570900_jkaf023-B1","doi-asserted-by":"publisher","first-page":"108271","DOI":"10.1016\/j.clineuro.2024.108271","article-title":"Autosomal recessive spinocerebellar ataxia type 4 due to a novel homozygous mutation in the VPS13D gene in a Saudi family","volume":"240","author":"Algahtani","year":"2024","journal-title":"Clin 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