(Q30157131)

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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.

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19744956%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

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

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19744956%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

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Charcot-Marie-Tooth disease type 4C

1 reference

based on heuristic

inferred from title

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19744956%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Máximo Ibo Galindo

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19744956%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Dolores Martínez-Rubio

3

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19744956%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Juan J. Vílchez

5

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7 February 2020

6

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7 February 2020

Carmen Espinós

7

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7 February 2020

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Teresa Sevilla

4

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7 February 2020

publication date

10 September 2009

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7 February 2020

Human Molecular Genetics

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7 February 2020

18

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7 February 2020

23

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7 February 2020

4603-4614

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7 February 2020

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Founder SH3TC2 mutations are responsible for a CMT4C French-Canadians cluster

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

A novel Gypsy founder mutation, p.Arg1109X in the CMT4C gene, causes variable peripheral neuropathy phenotypes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Role of myelin Po protein as a homophilic adhesion molecule

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Connexin mutations in X-linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Mitofusin 2 tethers endoplasmic reticulum to mitochondria

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Mycobacterium bovis Bacillus Calmette-Guerin and its cell wall complex induce a novel lysosomal membrane protein, SIMPLE, that bridges the missing link between lipopolysaccharide and p53-inducible gene, LITAF(PIG7), and estrogen-inducible gene, EET-1

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

WWOX binds the specific proline-rich ligand PPXY: identification of candidate interacting proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

SIMPLE mutations in Charcot-Marie-Tooth disease and the potential role of its protein product in protein degradation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Role for Rab7 in maturation of late autophagic vacuoles

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Phagosomes fuse with late endosomes and/or lysosomes by extension of membrane protrusions along microtubules: role of Rab7 and RILP

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Mutant Rab7 causes the accumulation of cathepsin D and cation-independent mannose 6-phosphate receptor in an early endocytic compartment

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Dynamic instability of microtubules requires dynamin 2 and is impaired in a Charcot-Marie-Tooth mutant

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Dynamin and its role in membrane fission

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Dynamin2 and cortactin regulate actin assembly and filament organization.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Dynamin 2 binds gamma-tubulin and participates in centrosome cohesion

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

N-terminal N-myristoylation of proteins: refinement of the sequence motif and its taxon-specific differences

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Fatty acylation of proteins: new insights into membrane targeting of myristoylated and palmitoylated proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

SH3 domains. Molecular 'Velcro'.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Protein modules and signalling networks

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

The tetratricopeptide repeat: a structural motif mediating protein-protein interactions

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Regulatory role of SH3 domain-mediated protein-protein interactions in synaptic vesicle endocytosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Ever-expanding network of dynamin-interacting proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Endosome protein sorting: motifs and machinery

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

An endocytosed TGN38 chimeric protein is delivered to the TGN after trafficking through the endocytic recycling compartment in CHO cells.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

PTEN and myotubularin phosphatases: from 3-phosphoinositide dephosphorylation to disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Rab7 associates with early endosomes to mediate sorting and transport of Semliki forest virus to late endosomes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Aggresome formation in neuropathy models based on peripheral myelin protein 22 mutations

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Basic local alignment search tool

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

A common CTLA4 haplotype associated with coeliac disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Signaling on the endocytic pathway

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDP427

21 January 2018

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