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DIGITAL.CSIC
Article . 2011 . Peer-reviewed
Data sources: DIGITAL.CSIC
Human Molecular Genetics
Article . 2009 . Peer-reviewed
Data sources: Crossref
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Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway

Authors: Lupo, Vincenzo; Galindo, Máximo I.; Martínez Rubio, M. Dolores; Sevilla, Teresa; Vílchez Padilla, Juan Jesús; Palau, Francesc; Espinós Armero, Carmen Angeles;

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway

Abstract

Mutations in SH3TC2 (KIAA1985) cause Charcot-Marie-Tooth disease (CMT) type 4C, a demyelinating inherited neuropathy characterized by early-onset and scoliosis. Here we demonstrate that the SH3TC2 protein is present in several components of the endocytic pathway including early endosomes, late endosomes and clathrin-coated vesicles close to the trans-Golgi network and in the plasma membrane. Myristoylation of SH3TC2 in glycine 2 is necessary but not sufficient for the proper location of the protein in the cell membranes. In addition to myristoylation, correct anchoring also needs the presence of SH3 and TPR domains. Mutations that cause a stop codon and produce premature truncations that remove most of the TPR domains are expressed as the wild-type protein. In contrast, missense mutations in or around the region of the first-TPR domain are absent from early endosomes, reduced in plasma membrane and late endosomes and are variably present in clathrin-coated vesicles. Our findings suggest that the endocytic and membrane trafficking pathway is involved in the pathogenesis of CMT4C disease. We postulate that missense mutations of SH3TC2 could impair communication between the Schwann cell and the axon causing an abnormal myelin formation.

Country
Spain
Keywords

Male, genètica, Cell Membrane, Intracellular Signaling Peptides and Proteins, Mutation, Missense, BIOLOGIA CELULAR, Proteins, Clathrin-Coated Vesicles, Endosomes, Endocytosis, White People, Protein Structure, Tertiary, Protein Transport, Charcot-Marie-Tooth Disease, BIOQUIMICA Y BIOLOGIA MOLECULAR, Humans, Female

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
views
OpenAIRE UsageCountsViews provided by UsageCounts
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55
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183
203
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