Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseases (Q28577069)

31 January 2017

title

Association of calnexin with mutant peripheral myelin protein-22 ex vivo: a basis for "gain-of-function" ER diseases (English)

1 reference

31 January 2017

K. M. Dickson

1

1 reference

31 January 2017

J. J. M. Bergeron

2

1 reference

31 January 2017

I. Shames

3

1 reference

31 January 2017

J. Colby

4

1 reference

31 January 2017

D. T. Nguyen

5

1 reference

31 January 2017

E. Chevet

6

1 reference

31 January 2017

D. Y. Thomas

7

1 reference

31 January 2017

G. J. Snipes

8

1 reference

31 January 2017

language of work or name

English

0 references

publication date

23 July 2002

1 reference

Proceedings of the National Academy of Sciences of the United States of America

31 January 2017

published in

1 reference

31 January 2017

volume

99

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31 January 2017

issue

15

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31 January 2017

page(s)

9852–9857

1 reference

The Structure of calnexin, an ER chaperone involved in quality control of protein folding

31 January 2017

cites work

1 reference

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Aggresomes: a cellular response to misfolded proteins

17 March 2017

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Role of N-linked oligosaccharide recognition, glucose trimming, and calnexin in glycoprotein folding and quality control

17 March 2017

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17 March 2017

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Characterization of a novel peripheral nervous system myelin protein (PMP-22/SR13)

17 March 2017

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The unfolding tale of the unfolded protein response

17 March 2017

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The unfolded protein response: no longer just a special teams player

29 September 2017

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PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells

29 September 2017

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IRE1 and efferent signaling from the endoplasmic reticulum.

29 September 2017

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Common themes in peripheral neuropathy disease genes

29 September 2017

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Role of N-oligosaccharide endoplasmic reticulum processing reactions in glycoprotein folding and degradation

29 September 2017

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The anatomy and cell biology of peripheral myelin protein-22.

29 September 2017

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Protein folding in a specialized compartment: the endoplasmic reticulum

29 September 2017

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Integration of endoplasmic reticulum signaling in health and disease

29 September 2017

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Hereditary peripheral neuropathies: clinical forms, genetics, and molecular mechanisms

29 September 2017

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Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.

29 September 2017

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Conformation-independent binding of monoglucosylated ribonuclease B to calnexin

29 September 2017

1 reference

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Peripheral myelin protein 22: facts and hypotheses

29 September 2017

1 reference

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Specific binding of endocrine transforming growth factor-beta 1 to vascular endothelium

29 September 2017

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The involvement of calcium in transport of secretory proteins from the endoplasmic reticulum

29 September 2017

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A myelin protein is encoded by the homologue of a growth arrest-specific gene

29 September 2017

1 reference

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A leucine-to-proline mutation in the putative first transmembrane domain of the 22-kDa peripheral myelin protein in the trembler-J mouse

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=125041

PMP22 accumulation in aggresomes: implications for CMT1A pathology

29 September 2017

1 reference

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Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy.

3 June 2018

1 reference

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Bip/GRP78 but not calnexin associates with a precursor of glycosylphosphatidylinositol-anchored protein

3 June 2018

1 reference

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Association of folding intermediates of glycoproteins with calnexin during protein maturation

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=125041

Trembler mouse carries a point mutation in a myelin gene

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=125041

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=125041

Many facets of the peripheral myelin protein PMP22 in myelination and disease

28 July 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.152621799

Detection and processing of peripheral myelin protein PMP22 in cultured Schwann cells

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=125041

DNA deletion associated with hereditary neuropathy with liability to pressure palsies

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=125041

DNA duplication associated with Charcot-Marie-Tooth disease type 1A

27 November 2018

1 reference

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Dejerine-Sottas neuropathy in mother and son with same point mutation of PMP22 gene

21 January 2018

2 references

https://api.crossref.org/works/10.1073%2FPNAS.152621799

21 January 2018

https://pubmed.ncbi.nlm.nih.gov/12119418

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Impaired intracellular trafficking is a common disease mechanism of PMP22 point mutations in peripheral neuropathies

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.152621799

Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.152621799

Membrane topology of peripheral myelin protein 22

21 January 2018

1 reference

https://api.crossref.org/works/10.1073%2FPNAS.152621799

Uncoupling of myelin assembly and schwann cell differentiation by transgenic overexpression of peripheral myelin protein 22

21 January 2018

1 reference

https://pubmed.ncbi.nlm.nih.gov/12119418

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1073/PNAS.152621799

1 reference

31 January 2017

0 references

0 references

1 reference