Article
Heterozygous de novo variants in HSPD1 cause hypomyelinating leukodystrophy through impaired HSP60 oligomerisation.
Journal of medical genetics - 31 Dec 2024
Eskin-Schwartz Marina, Seraidy Shaikah, Paz Eyal, Molhem Maism, Ranza Emmanuelle, Antonarakis Stylianos E, Blanc Xavier, Herman Kristin, Benko William S, Libzon Stephanie, Ben Sira Liat, Fattal-Valevski Aviva, Dolgin Vadim, Birk Ohad S, Kessel Amit, Bross Peter, Weiss Celeste, Azem Abdussalam, Zerem Ayelet
Abstract excerpt
INTRODUCTION: Hypomyelinating leukodystrophies are a group of genetic disorders, characterised by severe permanent myelin deficiency. Their clinical features include developmental delay with or without neuroregression, nystagmus, central hypotonia, progressing to spasticity and ataxia. HSPD1 encodes the HSP60 chaperonin protein, mediating ATP-dependent folding of imported proteins in the mitochondrial matrix....
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