{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Pijuan J"],"funding":["Generalitat de Catalunya","Instituto de Salud Carlos III","Ministerio de Ciencia, Innovación y Universidades"],"pagination":["784880"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8844575"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["16"],"pubmed_abstract":["Mitochondrial network is constantly in a dynamic and regulated balance of fusion and fission processes, which is known as mitochondrial dynamics. Mitochondria make physical contacts with almost every other membrane in the cell thus impacting cellular functions. Mutations in mitochondrial dynamics genes are known to cause neurogenetic diseases. To better understand the consequences on the cellular phenotype and pathophysiology of neurogenetic diseases associated with defective mitochondrial dynamics, we have compared the fibroblasts phenotypes of (i) patients carrying pathogenic variants in genes involved in mitochondrial dynamics such as <i>DRP1</i> (also known as <i>DNM1L</i>), <i>GDAP1</i>, <i>OPA1</i>, and <i>MFN2</i>, and (ii) patients carrying mutated genes that their dysfunction affe"],"journal":["Frontiers in neuroscience"],"pubmed_title":["Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases."],"pmcid":["PMC8844575"],"funding_grant_id":["CIBERER-ACCI 2019-16","2015 FEDER/S21","SLT002/16/00174","2017/SGR1308","SAF2015-66625-R","SLT002/16/00306"],"pubmed_authors":["Hoenicka J","Cantarero L","Diaz-Osorio Y","Nascimento A","Natera-de Benito D","Exposito-Escudero J","Carrera-Garcia L","Altisent-Huguet A","Pijuan J","Altimir A","Palau F","Ortez C"],"additional_accession":[]},"is_claimable":false,"name":"Mitochondrial Dynamics and Mitochondria-Lysosome Contacts in Neurogenetic Diseases.","description":"Mitochondrial network is constantly in a dynamic and regulated balance of fusion and fission processes, which is known as mitochondrial dynamics. Mitochondria make physical contacts with almost every other membrane in the cell thus impacting cellular functions. Mutations in mitochondrial dynamics genes are known to cause neurogenetic diseases. To better understand the consequences on the cellular phenotype and pathophysiology of neurogenetic diseases associated with defective mitochondrial dynamics, we have compared the fibroblasts phenotypes of (i) patients carrying pathogenic variants in genes involved in mitochondrial dynamics such as <i>DRP1</i> (also known as <i>DNM1L</i>), <i>GDAP1</i>, <i>OPA1</i>, and <i>MFN2</i>, and (ii) patients carrying mutated genes that their dysfunction affe","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022","modification":"2025-04-04T10:01:54.777Z","creation":"2025-04-04T10:01:54.777Z"},"accession":"S-EPMC8844575","cross_references":{"pubmed":["35177962"],"doi":["10.3389/fnins.2022.784880"]}}