Multi-OMICS study of a CHCHD10 variant causing ALS demonstrates metabolic rewiring and activation of endoplasmic reticulum and mitochondrial unfolded protein responses.
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DOI: 10.1093/hmg/ddab078
Abstract: Mutations in CHCHD10, coding for a mitochondrial intermembrane space protein, are a rare cause of autosomal dominant amyotrophic lateral sclerosis (ALS). Mutation-specific toxic gain of function or haploinsufficiency models have been proposed to explain pathogenicity.… read more here.
Keywords: protein; mitochondrial; multi omics; unfolded protein ... See more keywords
Modulation of the conformational state of mitochondrial complex I as a target for therapeutic intervention
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DOI: 10.1098/rsfs.2016.0104
Abstract: In recent years, there have been significant advances in our understanding of the functions of mitochondrial complex I other than the generation of energy. These include its role in generation of reactive oxygen species, involvement… read more here.
Keywords: mitochondrial; modulation conformational; state mitochondrial; conformational state ... See more keywords