Ontology highlight
ABSTRACT:
INSTRUMENT(S): Synapt MS
ORGANISM(S): Mus Musculus (mouse)
TISSUE(S): Brain, Neuron
DISEASE(S): Charcot-marie-tooth Disease
SUBMITTER: Malte Sielaff
LAB HEAD: Stefan Tenzer
PROVIDER: PXD024555 | Pride | 2022-08-12
REPOSITORIES: Pride
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Communications biology 20220603 1
Charcot-Marie-Tooth (CMT) disease 4A is an autosomal-recessive polyneuropathy caused by mutations of ganglioside-induced differentiation-associated protein 1 (GDAP1), a putative glutathione transferase, which affects mitochondrial shape and alters cellular Ca<sup>2+</sup> homeostasis. Here, we identify the underlying mechanism. We found that patient-derived motoneurons and GDAP1 knockdown SH-SY5Y cells display two phenotypes: more tubular mitochondria and a metabolism characterized by glutamine ...[more]