{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,17]],"date-time":"2026-08-17T23:15:47Z","timestamp":1787008547388,"version":"build-2736575974"},"reference-count":86,"publisher":"Oxford University Press (OUP)","issue":"4","license":[{"start":{"date-parts":[[2023,12,8]],"date-time":"2023-12-08T00:00:00Z","timestamp":1701993600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"funder":[{"name":"Funda\u00e7\u00e3o para a Ci\u00eancia e a Tecnologia-FCT","award":["SFRH\/BD\/138968\/2018"],"award-info":[{"award-number":["SFRH\/BD\/138968\/2018"]}]},{"name":"National Funds","award":["UIDB\/04293\/2020"],"award-info":[{"award-number":["UIDB\/04293\/2020"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,4,4]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Acyl-CoA binding domain containing 5 (ACBD5) is a critical player in handling very long chain fatty acids (VLCFA) en route for peroxisomal \u03b2-oxidation. Mutations in ACBD5 lead to the accumulation of VLCFA and patients present retinal dystrophy, ataxia, psychomotor delay and a severe leukodystrophy. Using CRISPR\/Cas9, we generated and characterized an Acbd5 Gly357* mutant allele.<\/jats:p>\n                  <jats:p>Gly357* mutant mice recapitulated key features of the human disorder, including reduced survival, impaired locomotion and reflexes, loss of photoreceptors, and demyelination. The ataxic presentation of Gly357* mice involved the loss of cerebellar Purkinje cells and a giant axonopathy throughout the CNS. Lipidomic studies provided evidence for the extensive lipid dysregulation caused by VLCFA accumulation. Following a proteomic survey, functional studies in neurons treated with VLCFA unravelled a deregulated cytoskeleton with reduced actin dynamics and increased neuronal filopodia. We also show that an adeno-associated virus-mediated gene delivery ameliorated the gait phenotypes and the giant axonopathy, also improving myelination and astrocyte reactivity. Collectively, we established a mouse model with significance for VLCFA-related disorders.<\/jats:p>\n                  <jats:p>The development of relevant neuropathological outcomes enabled the understanding of mechanisms modulated by VLCFA and the evaluation of the efficacy of preclinical therapeutic interventions.<\/jats:p>","DOI":"10.1093\/brain\/awad407","type":"journal-article","created":{"date-parts":[[2023,12,8]],"date-time":"2023-12-08T23:13:56Z","timestamp":1702077236000},"page":"1457-1473","source":"Crossref","is-referenced-by-count":9,"title":["Ataxia with giant axonopathy in\n                    <i>Acbd5<\/i>\n                    -deficient mice halted by adeno-associated virus gene therapy"],"prefix":"10.1093","volume":"147","author":[{"given":"Luis","family":"Granadeiro","sequence":"first","affiliation":[{"name":"Neurolipid Biology, Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade da Universidade do Porto - i3S and Instituto de Biologia Molecular e Celular - IBMC , 4200-135 Porto , Portugal"},{"name":"Graduate Program in Molecular and Cell Biology, Instituto de Ci\u00eancias Biom\u00e9dicas Abel Salazar (ICBAS), Universidade do Porto , 4050-313 Porto , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Violeta Enr\u00edquez","family":"Zarralanga","sequence":"additional","affiliation":[{"name":"Neurolipid Biology, Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade da Universidade do Porto - i3S and Instituto de Biologia Molecular e Celular - IBMC , 4200-135 Porto , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ricardo","family":"Rosa","sequence":"additional","affiliation":[{"name":"Neurolipid Biology, Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade da Universidade do Porto - i3S and Instituto de Biologia Molecular e Celular - IBMC , 4200-135 Porto , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filipa","family":"Franquinho","sequence":"additional","affiliation":[{"name":"Animal Facility, Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade da Universidade do Porto - i3S , 4200-135 Porto , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sofia","family":"Lamas","sequence":"additional","affiliation":[{"name":"Animal Facility, Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade da Universidade do Porto - i3S , 4200-135 Porto , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1754-1543","authenticated-orcid":false,"given":"Pedro","family":"Brites","sequence":"additional","affiliation":[{"name":"Neurolipid Biology, Instituto de Investiga\u00e7\u00e3o e Inova\u00e7\u00e3o em Sa\u00fade da Universidade do Porto - i3S and Instituto de Biologia Molecular e Celular - IBMC , 4200-135 Porto , Portugal"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2023,12,8]]},"reference":[{"key":"2024040418430479200_awad407-B1","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1093\/jb\/mvs105","article-title":"Very long-chain fatty acids: Elongation, physiology and related disorders","volume":"152","author":"Kihara","year":"2012","journal-title":"J Biochem"},{"key":"2024040418430479200_awad407-B2","doi-asserted-by":"crossref","first-page":"957","DOI":"10.1152\/physrev.00051.2021","article-title":"The physiological functions of human peroxisomes","volume":"103","author":"Wanders","year":"2023","journal-title":"Physiol Rev"},{"key":"2024040418430479200_awad407-B3","doi-asserted-by":"crossref","first-page":"55","DOI":"10.1007\/978-3-030-60204-8_5","article-title":"Fatty acid oxidation in peroxisomes: Enzymology, metabolic crosstalk with other organelles and peroxisomal 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