(Q42915875)

English

Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder

scientific article published on 17 May 2004

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scholarly article

1 reference

Europe PubMed Central

11 November 2017

Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder (English)

1 reference

Europe PubMed Central

11 November 2017

0 references

object named as

Rudolf Martini

8

0 references

Melitta Schachner

9

object named as

Melitta Schachner

1 reference

Europe PubMed Central

11 November 2017

author name string

Annette E Rünker

1

1 reference

Europe PubMed Central

11 November 2017

Igor Kobsar

2

1 reference

Europe PubMed Central

11 November 2017

Torsten Fink

3

1 reference

Europe PubMed Central

11 November 2017

Gabriele Loers

4

1 reference

Europe PubMed Central

11 November 2017

Thomas Tilling

5

1 reference

Europe PubMed Central

11 November 2017

Peggy Putthoff

6

1 reference

Europe PubMed Central

11 November 2017

Carsten Wessig

7

1 reference

Europe PubMed Central

11 November 2017

language of work or name

0 references

publication date

17 May 2004

1 reference

Europe PubMed Central

11 November 2017

number of pages

9

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inferred from page(s)

Journal of Cell Biology

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Europe PubMed Central

11 November 2017

165

1 reference

Europe PubMed Central

11 November 2017

4

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Europe PubMed Central

11 November 2017

565-573

1 reference

Europe PubMed Central

11 November 2017

The causes of Charcot-Marie-Tooth disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Hereditary motor and sensory neuropathies: a biological perspective

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Periaxin mutations cause a broad spectrum of demyelinating neuropathies.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Protein zero is necessary for E-cadherin-mediated adherens junction formation in Schwann cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Molecular pathogenesis of hereditary motor, sensory and autonomic neuropathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

The role of macrophages in demyelinating peripheral nervous system of mice heterozygously deficient in p0.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Periaxin mutations cause recessive Dejerine-Sottas neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Peripheral demyelination and neuropathic pain behavior in periaxin-deficient mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Schwann cell myelination requires timely and precise targeting of P(0) protein

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Charcot-Marie-Tooth disease type 1: molecular pathogenesis to gene therapy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

P0-deficient knockout mice as tools to understand pathomechanisms in Charcot-Marie-Tooth 1B and P0-related Déjérine-Sottas syndrome.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Transgenic mouse models of CMT1A and HNPP.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Motor neuropathy in porphobilinogen deaminase-deficient mice imitates the peripheral neuropathy of human acute porphyria

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Tetrameric assembly of full-sequence protein zero myelin glycoprotein by synchrotron x-ray scattering

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Molecular bases of myelin formation as revealed by investigations on mice deficient in glial cell surface molecules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Crystal structure of the extracellular domain from P0, the major structural protein of peripheral nerve myelin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Expression and functional roles of neural cell surface molecules and extracellular matrix components during development and regeneration of peripheral nerves

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Mutation of the myelin P0 gene in Charcot-Marie-Tooth neuropathy type 1B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

De novo mutation of the myelin P0 gene in Dejerine-Sottas disease (hereditary motor and sensory neuropathy type III)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Isolation and analysis of the gene encoding peripheral myelin protein zero

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Recombinant peripheral myelin protein Po confers both adhesion and neurite outgrowth-promoting properties

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

DNA Sequence, genomic organization, and chromosomal localization of the mouse peripheral myelin protein zero gene: Identification of polymorphic alleles

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

27 May 2018

Preserved myelin integrity and reduced axonopathy in connexin32-deficient mice lacking the recombination activating gene-1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

16 August 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

16 August 2018

A novel P0 glycoprotein transgene activates expression of lacZ in myelin-forming Schwann cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

16 August 2018

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

16 August 2018

Production and characterization of monoclonal antibodies to the extracellular domain of P0.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2172360

16 August 2018

Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport.

1 reference

https://api.crossref.org/works/10.1083%2FJCB.200402087

21 January 2018

Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome

1 reference

https://api.crossref.org/works/10.1083%2FJCB.200402087

21 January 2018

Focally folded myelin in Charcot-Marie-Tooth neuropathy type 1B with Ser49Leu in the myelin protein zero.

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Focal myelin swellings and tomacula in anti-MAG IgM paraproteinaemic neuropathy: novel teased nerve fiber studies

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Disease mechanisms and potential therapeutic strategies in Charcot-Marie-Tooth disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tomacula in MAG-deficient mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Control of myelin formation by axon caliber. (With a model of the control mechanism)

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Focal myelin thickenings in a peripheral neuropathy associated with IgM monoclonal gammopathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Heterozygous peripheral myelin protein 22-deficient mice are affected by a progressive demyelinating tomaculous neuropathy

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Tomaculous neuropathy in Charcot-Marie-Tooth disease with myelin protein zero gene mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Inherited demyelinating neuropathies: from gene to disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ultrastructural protein zero expression in Charcot-Marie-Tooth type 1B disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel MPZ gene mutation in dominantly inherited neuropathy with focally folded myelin sheaths

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in demyelinating peripheral neuropathies support molecular model of myelin P0-glycoprotein extracellular domain

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mice doubly deficient in the genes for P0 and myelin basic protein show that both proteins contribute to the formation of the major dense line in peripheral nerve myelin

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional abnormalities in P0-deficient mice resemble human hereditary neuropathies linked to P0 gene mutations

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Absence of the myelin-associated glycoprotein (MAG) and the neural cell adhesion molecule (N-CAM) interferes with the maintenance, but not with the formation of peripheral myelin

1 reference

https://pubmed.ncbi.nlm.nih.gov/15148307

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1083/JCB.200402087

1 reference

Europe PubMed Central

11 November 2017

1 reference

Europe PubMed Central

11 November 2017

1 reference

Europe PubMed Central

11 November 2017

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