Varaico: Literature-Extracted Genetic Variants

Gene:HSPB1
Variant:p.T139M
Back to variants list

HSPB1

NM_001540.5:p.T139M

Associated Papers

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

Pan X et al.

Cells, 2026

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

Shen X et al.

Biomolecules, 2022

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

Tedesco B et al.

Frontiers in Molecular Biosciences, 2022

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

Abati E et al.

Annals of Clinical and Translational Neurology, 2021

Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease.

Schiavon CR et al.

Frontiers in Cell and Developmental Biology, 2021

A novel HSPB1 mutation associated with a late onset CMT2 phenotype: Case presentation and systematic review of the literature.

Taga A et al.

Journal of the Peripheral Nervous System : Jpns, 2020

Mutations in HspB1 and hereditary neuropathies.

Muranova LK et al.

Cell Stress & Chaperones, 2020

Latency and interval therapy affect the evolution in metastatic colorectal cancer.

Nikbakht H et al.

Scientific Reports, 2020

31953485 (PubMed )
Supplement: 41598_2020_57476_MOESM5_ESM.xlsx › All_non-silent_mutations

A novel p.T139M mutation in HSPB1 highlighting the phenotypic spectrum in a family.

Amornvit J et al.

Brain and Behavior, 2017

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."