Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system (Q36961199)

17 August 2017

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title

Myotubularin-related (MTMR) phospholipid phosphatase proteins in the peripheral nervous system (English)

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17 August 2017

Alessandra Bolino

4

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author name string

Annalisa Bolis

series ordinal

1

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PubMed ID

17917119

17 August 2017

Paola Zordan

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2

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PubMed ID

17917119

17 August 2017

Silvia Coviello

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3

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17 August 2017

1 June 2007

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17 August 2017

Molecular Neurobiology

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17 August 2017

35

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17 August 2017

3

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17 August 2017

308-316

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https://scigraph.springernature.com/pub.10.1007/s12035-007-0031-0

17 August 2017

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cites work

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

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS12035-007-0031-0

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

Crossref

https://api.crossref.org/works/10.1007%2FS12035-007-0031-0

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

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS12035-007-0031-0

Rab proteins as membrane organizers

21 January 2018

1 reference

12 December 2020

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

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12 December 2020

Molecular basis for substrate recognition by MTMR2, a myotubularin family phosphoinositide phosphatase

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12 December 2020

Schwann cells and the pathogenesis of inherited motor and sensory neuropathies (Charcot-Marie-Tooth disease).

1 reference

12 December 2020

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

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12 December 2020

Phosphatidylinositol 3,5-bisphosphate: metabolism and cellular functions

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12 December 2020

Mechanisms of axon ensheathment and myelin growth

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12 December 2020

Functional redundancy in the myotubularin family

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12 December 2020

PI-loting membrane traffic

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12 December 2020

Identification of myotubularin as the lipid phosphatase catalytic subunit associated with the 3-phosphatase adapter protein, 3-PAP

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12 December 2020

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12 December 2020

Characterization of mutations in fifty North American patients with X-linked myotubular myopathy

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12 December 2020

MTM1 mutations in X-linked myotubular myopathy

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12 December 2020

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

1 reference

12 December 2020

Systematic analysis of myotubularins: heteromeric interactions, subcellular localisation and endosome related functions

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Male infertility, impaired spermatogenesis, and azoospermia in mice deficient for the pseudophosphatase Sbf1

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12 December 2020

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

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12 December 2020

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

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12 December 2020

A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast

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12 December 2020

The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles

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12 December 2020

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

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12 December 2020

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

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12 December 2020

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

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12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

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

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Regulation of myotubularin-related (MTMR)2 phosphatidylinositol phosphatase by MTMR5, a catalytically inactive phosphatase

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Disease mechanisms in inherited neuropathies

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12 December 2020

Pathomechanisms of mutant proteins in Charcot-Marie-Tooth disease

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12 December 2020

Myotubularin phosphatases: policing 3-phosphoinositides

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12 December 2020

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

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12 December 2020

Polarized domains of myelinated axons.

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12 December 2020

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

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12 December 2020

The role of phosphoinositides in membrane transport

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12 December 2020

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

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12 December 2020

Pseudo-phosphatase Sbf1 contains an N-terminal GEF homology domain that modulates its growth regulatory properties

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12 December 2020

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

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12 December 2020

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12 December 2020

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

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12 December 2020

Clinicopathological and genetic study of early-onset demyelinating neuropathy.

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12 December 2020

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

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12 December 2020

Phosphoinositide recognition domains

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12 December 2020

Phosphoinositide 3-kinase-mediated reduction of insulin receptor substrate-1/2 protein expression via different mechanisms contributes to the insulin-induced desensitization of its signaling pathways in L6 muscle cells

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

PDZ domain proteins of synapses

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12 December 2020

Rat testicular myotubularin, a protein tyrosine phosphatase expressed by Sertoli and germ cells, is a potential marker for studying cell-cell interactions in the rat testis

1 reference

12 December 2020

10.1007/S12035-007-0031-0

Identifiers

DOI

1 reference

17 August 2017

1 reference

PubMed ID

17917119