ArticleJournal of human genetics2005
Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy.
Article in Journal of human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers.
What it found
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Who cites it
34 citing papers in PubMed, 85 citations in OpenAlex.
- Single-molecule observations of human small heat shock proteins in complex with aggregation-prone client proteins.The Biochemical journal · 2025Article
- O-GlcNAc Modification Alters the Chaperone Activity of HSP27 Charcot-Marie-Tooth Type 2 (CMT2) Variants in a Mutation-Selective Fashion.ACS chemical biology · 2023Article
- Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation inBiomolecules · 2022Article
- Article
- Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.Annals of clinical and translational neurology · 2021Article
- Review
- Mutations in HspB1 and hereditary neuropathies.Cell stress & chaperones · 2020Review
- Small heat shock proteins in neurodegenerative diseases.Cell stress & chaperones · 2020Review
- Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.International journal of molecular sciences · 2020Review
- Overlapping spectrums: The clinicogenetic commonalities between Charcot-Marie-Tooth and other neurodegenerative diseases.Brain research · 2020Review
- Controlling properties of human neural progenitor cells using 2D and 3D conductive polymer scaffolds.Scientific reports · 2019Article
- Mechanisms of Small Heat Shock Proteins.Cold Spring Harbor perspectives in biology · 2019Review
- Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.Journal of the peripheral nervous system : JPNS · 2018Article
- Small heat shock proteins in ageing and age-related diseases.Cell stress & chaperones · 2017Review
- Proline isomerization in the C-terminal region of HSP27.Cell stress & chaperones · 2017Article
- Mutant HSPB1 causes loss of translational repression by binding to PCBP1, an RNA binding protein with a possible role in neurodegenerative disease.Acta neuropathologica communications · 2017Article
- Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.Neuromuscular disorders : NMD · 2017Article
- Knocking down of heat-shock protein 27 directs differentiation of functional glutamatergic neurons from placenta-derived multipotent cells.Scientific reports · 2016Article
- Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.Frontiers in molecular biosciences · 2016Review
- Overexpression of mutant HSP27 causes axonal neuropathy in mice.Journal of biomedical science · 2015Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Heat shock protein 27 (HSP27) belongs to a family of small heat shock proteins that play significant roles in the cellular stress response and are also involved in the control of protein-protein interactions as chaperons. Mutation in HSP27 has been identified as the cause of axonal Charcot-Marie-Tooth disease (CMT) and distal hereditary motor neuropathy (HMN). Heat shock protein 22 (HSP22) is a molecular counterpart of HSP27, and its mutation is another cause of distal HMN. We screened the mutation of HSP27 and HSP22 in 68 Japanese patients with axonal CMT or unclassified CMT and six Japanese patients with distal HMN. We detected a heterozygous P182S mutation of HSP27 in a patient with distal HMN, but we found no mutations in HSP22. Mutation in HSP27 may impair the formation of the stable neurofilament network that is indispensable for the maintenance of peripheral nerves.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.