Varaico: Literature-Extracted Genetic Variants

Gene:MPZ
Variant:p.I135T
Back to variants list

MPZ

NM_000530.8:p.I135T

Associated Papers

Computational prioritization of deleterious human myelin protein zero gene mutations reveals structural disruption and potential myelin dysfunction through dynamic simulations and stability analysis.

Alhassan HH et al.

Journal of Biomolecular Structure & Dynamics, 2025

Canine models of Charcot-Marie-Tooth: MTMR2, MPZ, and SH3TC2 variants in golden retrievers with congenital hypomyelinating polyneuropathy.

Cook S et al.

Neuromuscular Disorders : Nmd, 2023

Concomitant MPZ and MFN2 Gene Variants and Charcot Marie Tooth Disease in a Boy: Clinical and Genetic Analysis-Literature Review.

Comella M et al.

Case Reports in Pediatrics, 2022

Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy.

Subréville M et al.

European Journal of Neurology, 2021

Genetic spectrum of Charcot-Marie-Tooth disease associated with myelin protein zero gene variants in Japan.

Taniguchi T et al.

Clinical Genetics, 2021

Myelin protein zero mutations and the unfolded protein response in Charcot Marie Tooth disease type 1B.

Bai Y et al.

Annals of Clinical and Translational Neurology, 2018

Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene.

Sanmaneechai O et al.

Brain : a Journal of Neurology, 2015

Impact of I30T and I30M substitution in MPZ gene associated with Dejerine-Sottas syndrome type B (DSSB): A molecular modeling and dynamics.

Agrahari A et al.

Journal of Theoretical Biology, 2015

Clinical and cellular characterization of two novel MPZ mutations, p.I135M and p.Q187PfsX63.

Lin KP et al.

Clinical Neurology and Neurosurgery, 2012

Dysmyelinating and demyelinating Charcot-Marie-Tooth disease associated with two myelin protein zero gene mutations.

Drac H et al.

Journal of Applied Genetics, 2011

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."