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

C-terminal extension of HSPB6 in a family with myopathy and cataract.

Human molecular genetics - 8 Feb 2026

Sarparanta Jaakko, Jonson Per Harald, Vihola Anna, Luque Helena, Villar-Quiles Rocío-Nur, Stojkovic Tanya, Sian Veronica, Walder Charlotte, Suominen Tiina, Hackman Peter, Romero Norma B, Eymard Bruno, Udd Bjarne

Abstract excerpt

The small heat shock protein HSPB6 (a.k.a. Hsp20) is highly expressed in striated and smooth muscles. It modulates the oligomerization of its paralogs HSPB1 and CRYAB (HSPB5) and is involved e.g. in cytoskeletal regulation and autophagy. While HSPB6 variants have been implicated in cardiomyopathy, they have not been previously linked to neuromuscular disease. We report here a patient with late-onset myopathy and...

Read the complete abstract on PubMed

Topics

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

Share to Adaptor Proteins, Signal Transducing
Share to alpha-Crystallin B Chain

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Apoptosis Regulatory Proteins

Share to Cataract

Share to Heat-Shock Proteins

Share to Molecular Chaperones

Share to Muscle, Skeletal

Share to Muscular Diseases

Source

Open in PubMed Open full text

Identifiers

PMID: 41294008
DOI: 10.1093/hmg/ddaf175
PMCID: PMC13158247

Genes

HSPB6
CRYAB
HSPB1
BAG3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

C-terminal extension of HSPB6 in a family with myopathy and cataract.PMID 41294008Read ↗

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

Study of HSPB6: Insights into the Properties of the Multifunctional Protective AgentSemantic proximity Read ↗

Mutations in HspB1 and hereditary neuropathies.Semantic proximity Read ↗

Mutations in HSPB8 causing a new phenotype of distal myopathy and motor neuropathy.Semantic proximity Read ↗

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy.Semantic proximity Read ↗

The p.K90N mutation in human HSPB5 highlights the critical role of lysine 90 in chaperone function and structural integrity.Semantic proximity Read ↗

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy.Semantic proximity Read ↗

A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family.Semantic proximity Read ↗

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

Characterization of human small heat shock protein HSPB1 α-crystallin domain localized mutants associated with hereditary motor neuron diseases.Semantic proximity Read ↗

Physico-chemical properties of two point mutants of small heat shock protein HspB6 (Hsp20) with abrogated cardioprotection.Semantic proximity Read ↗

A novel dominant mutation in CRYAB gene leading to a severe phenotype with childhood onset.Semantic proximity Read ↗

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