Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization (Q40059407)

17 September 2017

Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization (English)

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17 September 2017

Dmitry Goryunov

1

1 reference

17 September 2017

Andrew Nightingale

2

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17 September 2017

Lorelei Bornfleth

3

1 reference

17 September 2017

Conrad Leung

4

1 reference

17 September 2017

Ronald K H Liem

5

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17 September 2017

language of work or name

English

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publication date

31 October 2007

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Journal of Neurochemistry

17 September 2017

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17 September 2017

104

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17 September 2017

6

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17 September 2017

1536-1552

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Connecdenn, a novel DENN domain-containing protein of neuronal clathrin-coated vesicles functioning in synaptic vesicle endocytosis

17 September 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Charcot-Marie-Tooth disease neurofilament mutations disrupt neurofilament assembly and axonal transport.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Assembly of type IV neuronal intermediate filaments in nonneuronal cells in the absence of preexisting cytoplasmic intermediate filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Further evidence that neurofilament light chain gene mutations can cause Charcot-Marie-Tooth disease type 2E.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Charcot-Marie-Tooth neuropathy type 1B is associated with mutations of the myelin P0 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Mutations in the neurofilament light chain gene (NEFL) cause early onset severe Charcot-Marie-Tooth disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot-Marie-Tooth neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Neurofilament functions in health and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Characterization of a panel of neurofilament antibodies recognizing N-terminal epitopes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

The myotubularin family: from genetic disease to phosphoinositide metabolism

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

The intermediate filament protein peripherin is the specific interaction partner of mouse BPAG1-n (dystonin) in neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

A new variant of Charcot-Marie-Tooth disease type 2 is probably the result of a mutation in the neurofilament-light gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Effects of Charcot-Marie-Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

The G336S variant in the human neurofilament-M gene does not affect its assembly or distribution: importance of the functional analysis of neurofilament variants

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Mutations in the neurofilament light gene linked to Charcot-Marie-Tooth disease cause defects in transport

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Myotubularin phosphatases: policing 3-phosphoinositides

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Aggregate formation and phosphorylation of neurofilament-L Pro22 Charcot-Marie-Tooth disease mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

Delayed maturation of regenerating myelinated axons in mice lacking neurofilaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1471-4159.2007.05103.X

10.1111/J.1471-4159.2007.05103.X

21 January 2018

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DOI

1 reference

17 September 2017

1 reference