Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.P182A
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HSPB1

NM_001540.5:p.P182A

Associated Papers

Stress-Driven Selective Neuronal Vulnerability in Charcot-Marie-Tooth Disease: From Prodromal Pathology to Therapeutic Implications.

Pan X et al.

Cells, 2026

Coevolution in human small Heat Shock Protein 1 is promoted by interactions between the Alpha-Crystallin domain and the disordered regions.

Racigh V et al.

Plos One, 2025

Genetic diversity in hereditary axonal neuropathy: Analyzing 53 Brazilian children.

Figueiredo FB et al.

Journal of the Peripheral Nervous System : Jpns, 2024

Heterogeneous Clinical Phenotypes of dHMN Caused by Mutation in HSPB1 Gene: A Case Series.

Shen X et al.

Biomolecules, 2022

Bioinformatic prediction of putative conveyers of O-GlcNAc transferase intellectual disability.

Mitchell CW et al.

The Journal of Biological Chemistry, 2022

35863433 (PubMed )
Supplement: mmc4.xlsx › -2_position

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

35281256 (PubMed )
Supplement: DataSheet1.docx

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

Abati E et al.

Annals of Clinical and Translational Neurology, 2021

Molecular analysis and clinical diversity of distal hereditary motor neuropathy.

Liu X et al.

European Journal of Neurology, 2020

Small heat shock proteins in neurodegenerative diseases.

Vendredy L et al.

Cell Stress & Chaperones, 2020

Next-generation sequencing in Charcot-Marie-Tooth disease: opportunities and challenges.

Pipis M et al.

Nature Reviews. Neurology, 2019

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

Tanabe H et al.

Journal of the Peripheral Nervous System : Jpns, 2018

Pilot phenotype and natural history study of hereditary neuropathies caused by mutations in the HSPB1 gene.

Rossor AM et al.

Neuromuscular Disorders : Nmd, 2017

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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."