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Toplam kayıt 13, listelenen: 11-13
The impacts of the mitochondrial myopathy-associated G58R mutation on the dynamic structural properties of CHCHD10
(2023)
The mitochondria are responsible for producing energy within the cell, and in mitochondrial myop-athy, there is a defect in the energy production process. The CHCHD10 gene codes for a protein calledcoiled-coil-helix-coil ...
Effects of the Jokela type of spinal muscular atrophy-relatedG66V mutation on the structural ensemble characteristics ofCHCHD10
(2023)
The G66V pathological variant of the coiled-coil-helix-coiled-coil-helix domain-containing protein 10 (CHCHD10), mitochondrial, plays a role in Jokela type spinalmuscular atrophy. The wild-type and G66V mutant-type CHCHD10 ...
Frontotemporal dementia-related V57E mutation impairs mitochondrial function and alters the structural properties of CHCHD10
(2023)
The V57E pathological variant of the mitochondrial coiled-coil-helix–coiled-coil-helix domain-containing protein 10 (CHCHD10) plays a role in frontotemporal dementia. The wild-type and V57E mutant CHCHD10 proteins contain ...