SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system - Wikidata - wikimedia - TriplyDB

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

http://www.wikidata.org/entity/Q24650643

about

Transcriptional regulator PRDM12 is essential for human pain perception Charcot-Marie-Tooth disease and intracellular traffic Sh3tc2 deficiency affects neuregulin-1/ErbB signaling Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy Haplotype-specific modulation of a SOX10/CREB response element at the Charcot-Marie-Tooth disease type 4C locus SH3TC2.Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.Motor and sensory neuropathy due to myelin infolding and paranodal damage in a transgenic mouse model of Charcot-Marie-Tooth disease type 1C.Severity of Demyelinating and Axonal Neuropathy Mouse Models Is Modified by Genes Affecting Structure and Function of Peripheral Nodes Biological roles of uterine glands in pregnancy.Uterine glands: biological roles in conceptus implantation, uterine receptivity and decidualization.Genome-wide analysis of EGR2/SOX10 binding in myelinating peripheral nerve.The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C.Molecular genetics of charcot-marie-tooth disease: from genes to genomes.Akt Regulates Axon Wrapping and Myelin Sheath Thickness in the PNS Processing of nerve biopsies: a practical guide for neuropathologists.Exclusive expression of the Rab11 effector SH3TC2 in Schwann cells links integrin-α6 and myelin maintenance to Charcot-Marie-Tooth disease type 4C.Update on Charcot-Marie-Tooth disease.Two different pathogenic mechanisms, dying-back axonal neuropathy and pancreatic senescence, are present in the YG8R mouse model of Friedreich's ataxia.Neuronal activity in the hub of extrasynaptic Schwann cell-axon interactions.Demyelinating prenatal and infantile developmental neuropathies.Neural and molecular features on Charcot-Marie-Tooth disease plasticity and therapy.Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.Neuropathologic characterization of INF2-related Charcot-Marie-Tooth disease: evidence for a Schwann cell actinopathy.Dysregulation of ErbB Receptor Trafficking and Signaling in Demyelinating Charcot-Marie-Tooth Disease.Towards a functional pathology of hereditary neuropathies.Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C Sox4 participates in the modulation of Schwann cell myelination.Therapeutic implications of protein homeostasis in demyelinating peripheral neuropathies.Charcot-Marie-Tooth disease type 4C in Japan: report of a case.A role of peripheral myelin protein 2 in lipid homeostasis of myelinating Schwann cells.A mouse model of Schwartz-Jampel syndrome reveals myelinating Schwann cell dysfunction with persistent axonal depolarization in vitro and distal peripheral nerve hyperexcitability when perlecan is lacking.Nerve Biopsy Is Still Useful in Some Inherited Neuropathies.Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.Clinical and Genetic Analysis of an Asian Indian Family with Charcot-Marie-Tooth Disease Type 4C.Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.

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P2860

SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system

http://www.wikidata.org/entity/Q24650643

description

2009 nî lūn-bûn

@nan

2009 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2009 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2009年の論文

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2009年論文

@yue

2009年論文

@zh-hant

2009年論文

@zh-hk

2009年論文

@zh-mo

2009年論文

@zh-tw

2009年论文

@wuu

name

SH3TC2/KIAA1985 protein is req ...... the peripheral nervous system

@ast

SH3TC2/KIAA1985 protein is req ...... the peripheral nervous system

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SH3TC2/KIAA1985 protein is req ...... the peripheral nervous system

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type

label

SH3TC2/KIAA1985 protein is req ...... the peripheral nervous system

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SH3TC2/KIAA1985 protein is req ...... the peripheral nervous system

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SH3TC2/KIAA1985 protein is req ...... the peripheral nervous system

@nl

prefLabel

SH3TC2/KIAA1985 protein is req ...... the peripheral nervous system

@ast

SH3TC2/KIAA1985 protein is req ...... the peripheral nervous system

@en

SH3TC2/KIAA1985 protein is req ...... the peripheral nervous system

@nl

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PNAS.0905523106

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Proceedings of the National Academy of Sciences of the United States of America

P1476

SH3TC2/KIAA1985 protein is req ...... the peripheral nervous system

@en

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Andreas Roos

http://www.w3.org/2001/XMLSchema#string

Anne-Sophie de Preux Charles

http://www.w3.org/2001/XMLSchema#string

Bernhard Luscher

http://www.w3.org/2001/XMLSchema#string

Joachim Weis

http://www.w3.org/2001/XMLSchema#string

P2860

The local differentiation of myelinated axons at nodes of Ranvier

Rab and Arl GTPase family members cooperate in the localization of the golgin GCC185.

Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy.

Rab11 regulates recycling through the pericentriolar recycling endosome

Efficient termination of vacuolar Rab GTPase signaling requires coordinated action by a GAP and a protein kinase.

Local regulation of fat metabolism in peripheral nerves.

A highly efficient recombineering-based method for generating conditional knockout mutations

Neuron to glia signaling triggers myelin membrane exocytosis from endosomal storage sites

Congenital hypomyelinating neuropathy with lethal conduction failure in mice carrying the Egr2 I268N mutation.

An electron microscopic study of central and peripheral nodes of Ranvier

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17528-33

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scholarly article

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2317591

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10.1073/PNAS.0905523106

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P407

P433

41

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P478

106

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Nicolas Tricaud

Claudia Stendel

Jennifer Zenker

Jean-Jacques Médard

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2009-10-13T00:00:00Z

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P5875

26871208

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19805030

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P921

SH3 domain and tetratricopeptide repeats 2

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2765159

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