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Article

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease.

Neuromolecular medicine - 1 Jan 2006

Niemann Axel, Berger Philipp, Suter Ueli

Abstract excerpt

We review the putative functions and malfunctions of proteins encoded by genes mutated in Charcot-Marie-Tooth disease (CMT; inherited motor and sensory neuropathies) in normal and affected peripheral nerves. Some proteins implicated in demyelinating CMT, peripheral myelin protein 22, protein zero (P0), and connexin32 (Cx32/GJB1) are crucial components of myelin. Periaxin is involved in connecting myelin to the...

Topics

Cell Cycle Proteins
Charcot-Marie-Tooth Disease
Connexins
Cytoskeletal Proteins
DNA-Binding Proteins
Demyelinating Diseases
Dynamin II
Early Growth Response Protein 2
Endocytosis
GTP Phosphohydrolases
Heat-Shock Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

High Mobility Group Proteins

Humans

Intracellular Signaling Peptides and Proteins

Kinesins

Lamin Type A

Membrane Proteins

Mitochondrial Proteins

Source

Identifiers

PMID: 16775378
DOI: 10.1385/nmm:8:1-2:217

Genes

DNM2
GDAP1
GJB1
EGR2
MTMR2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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