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Total 62 results found since Jan 2013.
Identification of a novel mutation in the < em > HACD1 < /em > gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion
J Genet. 2023;102:18.ABSTRACTCongenital fibre-type disproportion (CFTD) with myopathy, is a genetically heterogeneous disease in which there is relative hypotrophy of type-1-muscle-fibres compared to type-2-fibres on skeletal muscle biopsy. The classical characteristics of CFTD are infantile hypotonia and nonprogressive muscle weakness with a broad range of clinical manifestations. Pathogenic mutations in the HACD1 gene encoding 3-hydroxyacyl-CoA-dehydratase-1 have recently been reported to be associated with this disease. Whole-exome sequencing (WES) was conducted in a 12-year-old girl born to consanguineous parents from ...
Source: Journal of Genetics - February 24, 2023 Category: Genetics & Stem Cells Authors: Neda Jabbarpour Bita Poorshiri Hassan Saei Mohammad Barzegar Mortaza Bonyadi Source Type: research
Mitochondrial creatine sensitivity is lost in the D2.mdx model of Duchenne muscular dystrophy and rescued by the mitochondrial-enhancing compound Olesoxime
Am J Physiol Cell Physiol. 2023 Jan 23. doi: 10.1152/ajpcell.00377.2022. Online ahead of print.ABSTRACTDuchenne muscular dystrophy (DMD) is associated with distinct mitochondrial stress responses. Here, we aimed to determine whether the prospective mitochondrial-enhancing compound Olesoxime prevents early-stage mitochondrial stress in limb and respiratory muscle from D2.mdx mice using a proof-of-concept short-term regimen spanning 10-28 days of age. As mitochondrial-cytoplasmic energy transfer occurs via ATP- or phosphocreatine-dependent phosphate shuttling, we assessed bioenergetics with or without creatine in vitro. We o...
Source: American Journal of Physiology. Cell Physiology - January 23, 2023 Category: Cytology Authors: Catherine A Bellissimo Luca J Delfinis Meghan C Hughes Patrick C Turnbull Shivam Gandhi Sara N DiBenedetto Fasih A Rahman Peyman Tadi Christina A Amaral Ali Dehghani James Cobley Joe Quadrilatero Uwe Schlattner Christopher G R Perry Source Type: research
