Mutations in SPATA5 Are Associated with Microcephaly, Intellectual . . . SPATA5 encodes a ubiquitously expressed member of the ATPase associated with diverse activities (AAA) protein family and is involved in mitochondrial morphogenesis during early spermatogenesis It might also play a role in post-translational modification during cell differentiation in neuronal development
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Muscular and Molecular Pathology Associated with SPATA5 . . . - PubMed Through our study we provide insights into the molecular etiology of EHLMRS and provide further evidence for a muscle pathology associated with SPATA5 deficiency, including a pathological histochemical pattern accompanied by dysregulated protein expression Keywords: EHLMRS; SPATA5; mitochondrial disorder; muscle proteomics; myopathology
SPATA5 mutations cause a distinct autosomal recessive phenotype of . . . Our results describe new, probably pathogenic variants in SPATA5 that were identified in individuals with a comparable phenotype We thus independently confirm that bi-allelic pathogenic variants in SPATA5 cause a syndromic form of intellectual disability, and we delineate its clinical presentation
Muscular and Molecular Pathology Associated with SPATA5 Deficiency in a . . . Through our study we provide insights into the molecular etiology of EHLMRS and provide further evidence for a muscle pathology associated with SPATA5 deficiency, including a pathological histochemical pattern accompanied by dysregulated protein expression Keywords: EHLMRS, SPATA5, mitochondrial disorder, muscle proteomics, myopathology 1