Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases (Q34690650)

4 August 2017

1 reference

title

Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases (English)

1 reference

4 August 2017

Alessandra Bolino

3

0 references

Stefano C. Previtali

object named as

Stefano C Previtali

series ordinal

1

0 references

Angelo Quattrini

object named as

Angelo Quattrini

series ordinal

2

0 references

publication date

20 September 2007

1 reference

Expert Reviews in Molecular Medicine

4 August 2017

1 reference

4 August 2017

9

1 reference

4 August 2017

1-16

1 reference

4 August 2017

25

1 reference

Coincidence of two genetic forms of Charcot-Marie-Tooth disease in a single family.

4 August 2017

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

Autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths: clinical, electrophysiologic, and genetic aspects of a large family.

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

Autosomal-recessive Charcot-Marie-Tooth diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

SET binding factor 2 (SBF2) mutation causes CMT4B with juvenile onset glaucoma

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

A new SBF2 mutation in a family with recessive demyelinating Charcot-Marie-Tooth (CMT4B2).

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

Hereditary demyelinating motor and sensory neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

The raft-associated protein MAL is required for maintenance of proper axon--glia interactions in the central nervous system

21 January 2018

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Characterization of MTMR3. an inositol lipid 3-phosphatase with novel substrate specificity

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Clinical and electrophysiological aspects of Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Dlg, Scribble and Lgl in cell polarity, cell proliferation and cancer

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Organelle identity and the signposts for membrane traffic

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Inositol-lipid binding motifs: signal integrators through protein-lipid and protein-protein interactions

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Production of phosphatidylinositol 5-phosphate by the phosphoinositide 3-phosphatase myotubularin in mammalian cells

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Phosphatidylinositol-3 phosphatase myotubularin-related protein 6 negatively regulates CD4 T cells

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Membrane association of myotubularin-related protein 2 is mediated by a pleckstrin homology-GRAM domain and a coiled-coil dimerization module

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Polarized domains of myelinated axons.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Coincidence detection in phosphoinositide signaling.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Disruption of Mtmr2 produces CMT4B1-like neuropathy with myelin outfolding and impaired spermatogenesis

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Emerging roles of phosphatidylinositol monophosphates in cellular signaling and trafficking

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

FYVE-DSP2, a FYVE domain-containing dual specificity protein phosphatase that dephosphorylates phosphotidylinositol 3-phosphate

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

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/10.1017%2FS1462399407000439

7 January 2021

The local differentiation of myelinated axons at nodes of Ranvier

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Crystal structure of a phosphoinositide phosphatase, MTMR2: insights into myotubular myopathy and Charcot-Marie-Tooth syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Association of SET domain and myotubularin-related proteins modulates growth control

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

PI-loting membrane traffic

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Autosomal recessive motor and sensory neuropathy with excessive myelin outfolding

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

uDENN, DENN, and dDENN: indissociable domains in Rab and MAP kinases signaling pathways.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Autosomal recessive hereditary neuropathy with focally folded myelin sheaths and linked to chromosome 11q23: a distinct and homogeneous entity

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Characterization of myotubularin-related protein 7 and its binding partner, myotubularin-related protein 9

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Myotubularin, a protein tyrosine phosphatase mutated in myotubular myopathy, dephosphorylates the lipid second messenger, phosphatidylinositol 3-phosphate

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Clinicopathological and genetic study of early-onset demyelinating neuropathy.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Phosphatidylinositol-5-phosphate activation and conserved substrate specificity of the myotubularin phosphatidylinositol 3-phosphatases

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Congenital demyelinating motor and sensory neuropathy with focally folded myelin sheaths.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Discs-Large and Strabismus are functionally linked to plasma membrane formation

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Myotubularin phosphatases: policing 3-phosphoinositides

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Composition and formation of intercellular junctions in epithelial cells

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Functional redundancy in the myotubularin family

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Analysis of phosphoinositide binding domain properties within the myotubularin-related protein MTMR3.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

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/10.1017%2FS1462399407000439

7 January 2021

Mammalian cell morphology and endocytic membrane homeostasis require enzymatically active phosphoinositide 5-kinase PIKfyve

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

The myotubularin family of lipid phosphatases

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Expression of myotubularin by an adenoviral vector demonstrates its function as a phosphatidylinositol 3-phosphate [PtdIns(3)P] phosphatase in muscle cell lines: involvement of PtdIns(3)P in insulin-stimulated glucose transport

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Phosphatidylinositol 3,5-bisphosphate: metabolism and cellular functions

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Fab1p is essential for PtdIns(3)P 5-kinase activity and the maintenance of vacuolar size and membrane homeostasis

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Phosphatidylinositol 3-kinase encoded by yeast VPS34 gene essential for protein sorting

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Rab proteins as membrane organizers

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Animal models of inherited neuropathies

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Fab1p PtdIns(3)P 5-kinase function essential for protein sorting in the multivesicular body

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Hereditary demyelinating neuropathy of infancy. A genetically complex syndrome

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Myotubularin regulates the function of the late endosome through the gram domain-phosphatidylinositol 3,5-bisphosphate interaction

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Vac14 controls PtdIns(3,5)P(2) synthesis and Fab1-dependent protein trafficking to the multivesicular body

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Progress in clinical neurosciences: Charcot-Marie-Tooth disease and related inherited peripheral neuropathies.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Congenital hypo- and hypermyelination neuropathy. Two cases

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

An animal model for Charcot-Marie-Tooth disease type 4B1.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Neurofilament mRNAs are present and translated in the normal and severed sciatic nerve

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

The mammalian phosphatidylinositol 3-phosphate 5-kinase (PIKfyve) regulates endosome-to-TGN retrograde transport.

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

De- and remyelination in spinal roots during normal perinatal development in the cat: a brief summary of structural observations and a conceptual hypothesis

1 reference

https://api.crossref.org/works/10.1017%2FS1462399407000439

7 January 2021

10.1017/S1462399407000439

Identifiers

DOI

0 references

PubMed ID

17880751

1 reference

PubMed ID

17880751