LAUSR

Loss of mitochondrial Chchd10 or Chchd2 in zebrafish leads to an ALS‐like phenotype and Complex I deficiency independent of the mitochondrial integrated stress response

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2 Published in 2023 at "Developmental Neurobiology"

DOI: 10.1002/dneu.22909

Abstract: Mutations in CHCHD10 and CHCHD2, encoding two paralogous mitochondrial proteins, have been identified in cases of amyotrophic lateral sclerosis, frontotemporal lobar degeneration, and Parkinson's disease. Their role in disease is unclear, though both have been… read more here.

Keywords: chchd10; chchd10 chchd2; chchd2 zebrafish; mitochondrial integrated ... See more keywords

Structures of the Wild-Type and S59L Mutant CHCHD10 Proteins Important in Amyotrophic Lateral Sclerosis-Frontotemporal Dementia.

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1 Published in 2022 at "ACS chemical neuroscience"

DOI: 10.1021/acschemneuro.2c00011

Abstract: The S59L genetic mutation of the mitochondrial coiled-coil-helix-coiled-coil-helix domain-containing protein 10 (CHCHD10) is involved in the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The wild-type and mutant forms of this protein contain… read more here.

Keywords: chchd10; lateral sclerosis; wild type; type s59l ... See more keywords

CHCHD2 and CHCHD10-related neurodegeneration: molecular pathogenesis and the path to precision therapy.

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2 Published in 2023 at "Biochemical Society transactions"

DOI: 10.1042/bst20221365

Abstract: In the last decade, dominant mutations in the mitochondrial protein CHCHD10 (p.R15L and p.S59L) and its paralog CHCHD2 (p.T61I) were shown to cause familial amyotrophic lateral sclerosis (ALS) and Parkinson's disease (PD), respectively, with phenotypes… read more here.

Keywords: precision therapy; chchd10; chchd10 related; related neurodegeneration ... See more keywords

CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency

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1 Published in 2018 at "Human Molecular Genetics"

DOI: 10.1093/hmg/ddx436

Abstract: Mutations in the mitochondrially located protein CHCHD10 cause motoneuron disease by an unknown mechanism. In this study, we investigate the mutations p.R15L and p.G66V in comparison to wild-type CHCHD10 and the non-pathogenic variant p.P34S in… read more here.

Keywords: motoneuron disease; cause motoneuron; mutations r15l; chchd10 ... See more keywords

CHCHD10 Modulates Thermogenesis of Adipocyte by Regulating Lipolysis.

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1 Published in 2022 at "Diabetes"

DOI: 10.2337/db21-0999

Abstract: Brown and beige adipocytes dissipate energy in a non-shivering thermogenesis manner, exerting beneficial effects on metabolic homeostasis. CHCHD10 is a nuclear-encoded mitochondrial protein involved in cristae organization; however, its role in thermogenic adipocytes remains unknown.… read more here.

Keywords: adipocyte; regulating lipolysis; chchd10; mice ... See more keywords