Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Human molecular genetics - 15 Feb 2018

Brockmann Sarah J, Freischmidt Axel, Oeckl Patrick, Müller Kathrin, Ponna Srinivas K, Helferich Anika M, Paone Christoph, Reinders Jörg, Kojer Kerstin, Orth Michael, Jokela Manu, Auranen Mari, Udd Bjarne, Hermann Andreas, Danzer Karin M, Lichtner Peter, Walther Paul, Ludolph Albert C, Andersen Peter M, Otto Markus, Kursula Petri, Just Steffen, Weishaupt Jochen H

Abstract excerpt

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 vitro, in patient cells as well as in the vertebrate in vivo model zebrafish. We demonstrate a reduction of CHCHD10 protein levels in p.R15L and p.G66V mutant patient...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to DNA-Binding Proteins
Share to DNA, Complementary

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haploinsufficiency

Share to Mitochondrial Proteins

Share to Motor Neuron Disease

Share to RNA, Messenger

Share to Zebrafish

Share to Zebrafish Proteins

Source

Identifiers

PMID: 29315381
DOI: 10.1093/hmg/ddx436

Genes

CHCHD10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency.PMID 29315381Read ↗

CHCHD2 and CHCHD10-related neurodegeneration: molecular pathogenesis and the path to precision therapy.Semantic proximity Read ↗

Mutation in the novel nuclear-encoded mitochondrial protein CHCHD10 in a family with autosomal dominant mitochondrial myopathy.Semantic proximity Read ↗

Loss of mitochondrial Chchd10 or Chchd2 in zebrafish leads to an ALS-like phenotype and Complex I deficiency independent of the mt-ISRSemantic proximity Read ↗

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.Semantic proximity Read ↗

In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions.Semantic proximity Read ↗

Early death of ALS-linked CHCHD10-R15L transgenic mice with central nervous system, skeletal muscle, and cardiac pathologySemantic proximity Read ↗

Mutation analysis of<i>CHCHD10</i>in different neurodegenerative diseasesSemantic proximity Read ↗

A mouse model of CHCHD10 p.R15L familial ALS presents mild, age-related motor neuron degeneration without protein instability or mitochondrial dysfunctionSemantic proximity Read ↗

Clinical, neuropathological, and biochemical characterization of ALS in a large CHCHD10 R15L familySemantic proximity Read ↗

CHCHD10 mutations induce tissue-specific mitochondrial DNA deletions with a distinct signature.Semantic proximity Read ↗

Loss of CHCHD10-CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS.Semantic proximity Read ↗

CHCHD10P80L knock-in zebrafish display a mild ALS-like phenotype.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.