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

Mutations of small heat shock proteins and human congenital diseases.

Biochemistry. Biokhimiia - 1 Dec 2012

Datskevich P N, Nefedova V V, Sudnitsyna M V, Gusev N B

Abstract excerpt

The structure and properties of different members of a large family of small heat shock proteins (sHsp) playing an important role in cell homeostasis are described. Participation of the N-terminal domain in formation of large oligomers and chaperone activity of sHsp is analyzed. The structure of the α-crystallin domain of sHsp is characterized and the role of this domain in sHsp dimerization and chaperone...

Topics

Animals
Cataract
Genetic Diseases, Inborn
Heat-Shock Proteins, Small
Humans
Mutation

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 23379525
DOI: 10.1134/S0006297912130081

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations of small heat shock proteins and human congenital diseases.PMID 23379525Read ↗

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

Small heat shock proteins and protein-misfolding diseases.Semantic proximity Read ↗

The family of mammalian small heat shock proteins (HSPBs): implications in protein deposit diseases and motor neuropathies.Semantic proximity Read ↗

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

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

The small heat shock proteins family: the long forgotten chaperones.Semantic proximity Read ↗

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

Small heat shock proteins and the cytoskeleton: an essential interplay for cell integrity?Semantic proximity Read ↗

Heat shock proteins: Biological functions, pathological roles, and therapeutic opportunitiesSemantic proximity Read ↗

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

sHSP in the eye lens: crystallin mutations, cataract and proteostasis.Semantic proximity Read ↗

HSPBs: Small proteins with big implications in human diseaseSemantic proximity Read ↗

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