Differential effects of Mendelian GDAP1 clinical variants on mitochondria-lysosome membrane contacts sites.
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DOI: 10.1242/bio.059707
Abstract: GDAP1 pathogenic variants cause Charcot-Marie-Tooth (CMT) disease, the most common hereditary motor and sensory neuropathy. CMT-GDAP1 can be axonal or demyelinating, with autosomal dominant or recessive inheritance, leading to phenotypic heterogeneity. Recessive GDAP1 variants cause… read more here.
Keywords: gdap1 clinical; clinical variants; membrane; differential effects ... See more keywords