Article
The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering.
International journal of molecular sciences - 15 Apr 2024
Ceprian Maria, Juntas-Morales Raul, Campbell Graham, Walther-Louvier Ulrike, Rivier François, Camu William, Esselin Florence, Echaniz-Laguna Andoni, Stojkovic Tanya, Bouhour Françoise, Latour Philippe, Tricaud Nicolas
Abstract excerpt
Demyelinating Charcot-Marie-Tooth 4G (CMT4G) results from a recessive mutation in the 5'UTR region of the Hexokinase 1 (HK1) gene. HK participates in mitochondrial calcium homeostasis by binding to the Voltage-Dependent Anion Channel (VDAC), through its N-terminal porin-binding domain. Our hypothesis is that CMT4G mutation results in a broken interaction between mutant HK1 and VDAC, disturbing mitochondrial...
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