Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.V55E
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HSPB1

NM_001540.5:p.V55E

Associated Papers

Human HspB1, HspB3, HspB5 and HspB8: Shaping these disease factors during vertebrate evolution.

Benndorf R et al.

Cell Stress & Chaperones, 2022

35678958 (PubMed )
Supplement: 12192_2022_1268_MOESM2_ESM.pdf

Insights on Human Small Heat Shock Proteins and Their Alterations in Diseases.

Tedesco B et al.

Frontiers in Molecular Biosciences, 2022

Insights Into the Role of Heat Shock Protein 27 in the Development of Neurodegeneration.

Holguin BA et al.

Frontiers in Molecular Neuroscience, 2022

Charcot-Marie-Tooth disease type 2F associated with biallelic HSPB1 mutations.

Abati E et al.

Annals of Clinical and Translational Neurology, 2021

Small heat shock proteins in neurodegenerative diseases.

Vendredy L et al.

Cell Stress & Chaperones, 2020

Neuromuscular Diseases Due to Chaperone Mutations: A Review and Some New Results.

Sarparanta J et al.

International Journal of Molecular Sciences, 2020

Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan.

Hsu YH et al.

Annals of Clinical and Translational Neurology, 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

A novel heat shock protein 27 homozygous mutation: widening of the continuum between MND/dHMN/CMT2.

Scarlato M et al.

Journal of the Peripheral Nervous System : Jpns, 2015

Small Heat Shock Proteins and Distal Hereditary Neuropathies.

Nefedova VV et al.

Biochemistry. Biokhimiia, 2015

Characterization of human small heat shock protein HspB1 that carries C-terminal domain mutations associated with hereditary motor neuron diseases.

Chalova AS et al.

Biochimica Et Biophysica Acta, 2014

Mutations of small heat shock proteins and human congenital diseases.

Datskevich PN et al.

Biochemistry. Biokhimiia, 2012

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

Lin KP et al.

Plos One, 2011

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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."