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Neuropathological and Molecular Features Associated With a Heterozygous DNAJC7 Mutation in Amyotrophic Lateral Sclerosis.

Neuropathology and applied neurobiology - 1 Aug 2026

Nakayama Yoshiaki, Kume Kodai, Baba Takashi, Ayaki Takashi, Hanada Keisuke, Miyamoto Katsuichi, Inoue Norimitsu, Kawakami Hideshi, Ito Hidefumi

Abstract excerpt

AIMS: Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder with unclear molecular mechanisms. Heterozygous protein-truncating variants of DNAJC7, which encode a cochaperone involved in Hsp70/90-mediated protein quality control, are potential risk factors for ALS. However, the neuropathological consequences of heterozygous DNAJC7 mutations are unclear. We aimed to clarify the molecular and...

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Identifiers

PMID: 42362484
DOI: 10.1111/nan.70086
PMCID: PMC13428392

Genes

DNAJC7

Variants

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