Ontology highlight
ABSTRACT:
SUBMITTER: De Rasmo D
PROVIDER: S-EPMC6982165 | biostudies-literature | 2019 Dec
REPOSITORIES: biostudies-literature
International journal of molecular sciences 20191226 1
Nephropathic cystinosis is a rare lysosomal storage disorder caused by mutations in <i>CTNS</i> gene leading to Fanconi syndrome. Independent studies reported defective clearance of damaged mitochondria and mitochondrial fragmentation in cystinosis. Proteins involved in the mitochondrial dynamics and the mitochondrial ultrastructure were analyzed in <i>CTNS</i>-/- cells treated with cysteamine, the only drug currently used in the therapy for cystinosis but ineffective to treat Fanconi syndrome. ...[more]