(Q39356867)

11 September 2017

Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C (English)

1 reference

Charcot-Marie-Tooth disease type 4C

11 September 2017

1 reference

1

1 reference

11 September 2017

Andrew A Peden

2

1 reference

11 September 2017

Folma Buss

3

1 reference

11 September 2017

Nicholas A Bright

4

1 reference

11 September 2017

Morwena Latouche

5

1 reference

11 September 2017

Mary M Reilly

6

1 reference

11 September 2017

John Kendrick-Jones

7

1 reference

11 September 2017

J Paul Luzio

8

1 reference

11 September 2017

22 December 2009

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11 September 2017

Human Molecular Genetics

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11 September 2017

19

1 reference

11 September 2017

1009-1018

1 reference

11 September 2017

6

1 reference

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

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

D-AKAP2 interacts with Rab4 and Rab11 through its RGS domains and regulates transferrin receptor recycling

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

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

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

Pathways and mechanisms of endocytic recycling

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

Rab GTPases as coordinators of vesicle traffic

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

Molecular mechanisms of inherited demyelinating neuropathies

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

Sorting out the inherited neuropathies.

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

Identification of Rab11 as a small GTPase binding protein for the Evi5 oncogene

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

Cell biology of membrane trafficking in human disease

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

Sec15 interacts with Rab11 via a novel domain and affects Rab11 localization in vivo

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

The RCP-Rab11 complex regulates endocytic protein sorting

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

Molecular characterization of Rab11 interactions with members of the family of Rab11-interacting proteins

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

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

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

Identification of a novel Rab11/25 binding domain present in Eferin and Rip proteins

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

Genetic defects of intracellular-membrane transport

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

Study on the gene and phenotypic characterisation of autosomal recessive demyelinating motor and sensory neuropathy (Charcot-Marie-Tooth disease) with a gene locus on chromosome 5q23-q33.

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

Epidemiology of peripheral neuropathy

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

Immuno-localization of the insulin regulatable glucose transporter in brown adipose tissue of the rat

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

Improving structural integrity of cryosections for immunogold labeling

11 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy

25 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

The effects of cAMP on differentiation of cultured Schwann cells: progression from an early phenotype (04+) to a myelin phenotype (P0+, GFAP-, N-CAM-, NGF-receptor-) depends on growth inhibition

15 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2830826

Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations

15 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDP565

Class I FIPs, Rab11‐Binding Proteins That Regulate Endocytic Sorting and Recycling

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDP565

21 January 2018

Identifiers

DOI

10.1093/HMG/DDP565

1 reference

11 September 2017

1 reference

11 September 2017

1 reference