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

Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea.

Genes - 5 Mar 2022

Lim Si On, Jung Na Young, Lee Ah Jin, Choi Hee Ji, Kwon Hye Mi, Son Wonseok, Nam Soo Hyun, Choi Byung-Ok, Chung Ki Wha

Abstract excerpt

Small heat shock proteins (sHSPs) are ATP-independent chaperones that help correct the folding of denatured proteins and protect cells from stress. Mutations in HSPB1, HSPB8, and HSPB3 are implicated in inherited peripheral neuropathies (IPNs), such as Charcot-Marie-Tooth disease type 2 (CMT2) and distal hereditary motor neuropathies (dHMN). This study, using whole exome sequencing or targeted gene sequencing,...

Read the complete abstract on PubMed

Topics

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

Share to Charcot-Marie-Tooth Disease
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heat-Shock Proteins

Share to Mutation

Share to Republic of Korea

Source

Open in PubMed Open full text

Identifiers

PMID: 35328016
DOI: 10.3390/genes13030462
PMCID: PMC8949397

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic and Clinical Studies of Peripheral Neuropathies with Three Small Heat Shock Protein Gene Variants in Korea.PMID 35328016Read ↗

Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations.Semantic proximity Read ↗

Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.Semantic proximity Read ↗

Clinical and genetic features of Charcot-Marie-Tooth disease 2F and hereditary motor neuropathy 2B in Japan.Semantic proximity Read ↗

A novel Lys141Thr mutation in small heat shock protein 22 (HSPB8) gene in Charcot-Marie-Tooth disease type 2L.Semantic proximity Read ↗

Small heat shock proteins in neurodegenerative diseases.Semantic proximity Read ↗

Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation.Semantic proximity Read ↗

Neuronal diseases: small heat shock proteins calm your nerves.Semantic proximity Read ↗

HSPB1 mutation causing distal Hereditary Motor Neuropathy type 2B in a Polish family.Semantic proximity Read ↗

Insights on Human Small Heat Shock Proteins and Their Alterations in DiseasesSemantic proximity Read ↗

A family with distal hereditary motor neuropathy and a K141Q mutation of small heat shock protein HSPB1.Semantic proximity Read ↗

Small Heat Shock Proteins and Distal Hereditary Neuropathies.Semantic proximity Read ↗

Structure, function, property, and role in neurologic diseases and other diseases of the sHsp22.Semantic proximity Read ↗

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