{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Braun F"],"funding":["Bundesministerium für Bildung und Forschung","French Muscular Dystrophy Association","Ministerium für Innovation, Wissenschaft und Forschung des Landes Nordrhein-Westfalen","European Regional Development Fund"],"pagination":["7835"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8345956"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["22(15)"],"pubmed_abstract":["Mutations in the <i>SPATA5</i> gene are associated with epilepsy, hearing loss and mental retardation syndrome (EHLMRS). While <i>SPATA5</i> is ubiquitously expressed and is attributed a role within mitochondrial morphogenesis during spermatogenesis, there is only limited knowledge about the associated muscular and molecular pathology. This study reports on a comprehensive workup of muscular pathology, including proteomic profiling and microscopic studies, performed on an 8-year-old girl with typical clinical presentation of EHLMRS, where exome analysis revealed two clinically relevant, compound-heterozygous variants in <i>SPATA5</i>. Proteomic profiling of a quadriceps biopsy showed the dysregulation of 82 proteins, out of which 15 were localized in the mitochondrion, while 19 were associ"],"journal":["International journal of molecular sciences"],"pubmed_title":["Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS."],"pmcid":["PMC8345956"],"funding_grant_id":["21466","un","NME-GPS"],"pubmed_authors":["Braun F","Kolbel H","Wortmann S","Sickmann A","Wagner M","Marteau T","Prokisch H","Schara-Schmidt U","Forster F","Della Marina A","Hentschel A","Hertel S","Roos A"],"additional_accession":[]},"is_claimable":false,"name":"Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a Child with EHLMRS.","description":"Mutations in the <i>SPATA5</i> gene are associated with epilepsy, hearing loss and mental retardation syndrome (EHLMRS). While <i>SPATA5</i> is ubiquitously expressed and is attributed a role within mitochondrial morphogenesis during spermatogenesis, there is only limited knowledge about the associated muscular and molecular pathology. This study reports on a comprehensive workup of muscular pathology, including proteomic profiling and microscopic studies, performed on an 8-year-old girl with typical clinical presentation of EHLMRS, where exome analysis revealed two clinically relevant, compound-heterozygous variants in <i>SPATA5</i>. Proteomic profiling of a quadriceps biopsy showed the dysregulation of 82 proteins, out of which 15 were localized in the mitochondrion, while 19 were associ","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Jul","modification":"2026-04-08T08:14:31.459Z","creation":"2022-02-11T05:54:59.793Z"},"accession":"S-EPMC8345956","cross_references":{"pubmed":["34360601"],"doi":["10.3390/ijms22157835"]}}