Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings. (Q40389040)

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6 January 2020

title

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

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Angelo Quattrini

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Alessandra Bolino

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Lawrence Wrabetz

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Giorgia Dina

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1

Annalisa Bolis

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Simona Bussini

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Ubaldo Del Carro

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Maria Laura Feltri

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2

Silvia Coviello

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Mariachiara Malaguti

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author name string

Celia Pardini

5

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Paolo Morana

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language of work or name

English

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publication date

1 September 2005

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6 January 2020

published in

Journal of Neuroscience

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volume

25

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issue

37

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page(s)

8567-8577

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describes a project that uses

6 January 2020

ImageJ

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11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC6725661/fullTextXML

inferred from PubMed Central ID database lookup

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Loss of distal axons and sensory Merkel cells and features indicative of muscle denervation in hindlimbs of P0-deficient mice

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Selective agenesis of the dorsal pancreas in mice lacking homeobox gene Hlxb9

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Requirement for the homeobox gene Hb9 in the consolidation of motor neuron identity

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P0-Cre transgenic mice for inactivation of adhesion molecules in Schwann cells

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P(0) glycoprotein overexpression causes congenital hypomyelination of peripheral nerves

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

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12 December 2020

Epitope-tagged P(0) glycoprotein causes Charcot-Marie-Tooth-like neuropathy in transgenic mice.

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Patterning of muscle acetylcholine receptor gene expression in the absence of motor innervation

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Conditional disruption of beta 1 integrin in Schwann cells impedes interactions with axons

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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.

1 reference

12 December 2020

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

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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

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

1 reference

12 December 2020

Disruption of Cnp1 uncouples oligodendroglial functions in axonal support and myelination

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12 December 2020

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

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12 December 2020

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

1 reference

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

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

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

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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

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

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12 December 2020

Disease mechanisms in inherited neuropathies

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12 December 2020

Polarized domains of myelinated axons.

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12 December 2020

The local differentiation of myelinated axons at nodes of Ranvier

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12 December 2020

Axonal neuregulin-1 regulates myelin sheath thickness

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12 December 2020

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

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12 December 2020

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

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12 December 2020

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

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12 December 2020

Charcot-Marie-Tooth disease: an update

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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

Vimentin-dependent spatial translocation of an activated MAP kinase in injured nerve

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12 December 2020

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

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12 December 2020

The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification

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12 December 2020

Spatially restricted expression of Dlx-1, Dlx-2 (Tes-1), Gbx-2, and Wnt- 3 in the embryonic day 12.5 mouse forebrain defines potential transverse and longitudinal segmental boundaries

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12 December 2020

Novel E-cadherin-mediated adhesion in peripheral nerve: Schwann cell architecture is stabilized by autotypic adherens junctions

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12 December 2020

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

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12 December 2020

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.

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Animal models for inherited peripheral neuropathies.

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

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12 December 2020

10.1523/JNEUROSCI.2493-05.2005

Identifiers

DOI

1 reference

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6 January 2020

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6 January 2020

PubMed publication ID

16162938

1 reference