Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.K141E
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HSPB1

NM_001540.5:p.K141E

Associated Papers

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

Lim SO et al.

Genes, 2022

35328016 (PubMed )
Supplement: genes-13-00462-s001.zip › genes-1583524-supplementary.pdf

HspB8 prevents aberrant phase transitions of FUS by chaperoning its folded RNA-binding domain.

Boczek EE et al.

Elife, 2021

New family with HSPB8-associated autosomal dominant rimmed vacuolar myopathy.

Al-Tahan S et al.

Neurology. Genetics, 2019

Novel insights in the disease biology of mutant small heat shock proteins in neuromuscular diseases.

Adriaenssens E et al.

Brain : a Journal of Neurology, 2017

Mitochondrial deficits and abnormal mitochondrial retrograde axonal transport play a role in the pathogenesis of mutant Hsp27-induced Charcot Marie Tooth Disease.

Kalmar B et al.

Human Molecular Genetics, 2017

Chaperonopathies: Spotlight on Hereditary Motor Neuropathies.

Lupo V et al.

Frontiers in Molecular Biosciences, 2016

Abnormal assemblies and subunit exchange of alphaB-crystallin R120 mutants could be associated with destabilization of the dimeric substructure.

Michiel M et al.

Biochemistry, 2009

Asymmetrical late onset motor neuropathy associated with a novel mutation in the small heat shock protein HSPB1 (HSP27).

James PA et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2008

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."