(Q41067619)

English

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

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scholarly article

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Europe PubMed Central

PubMed publication ID

26 September 2017

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

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6792531&resulttype=core&format=json

12 May 2020

endoplasmic reticulum

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author name string

D D'Urso

1

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6792531&resulttype=core&format=json

12 May 2020

R Prior

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6792531&resulttype=core&format=json

12 May 2020

R Greiner-Petter

3

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6792531&resulttype=core&format=json

12 May 2020

A A Gabreëls-Festen

4

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6792531&resulttype=core&format=json

12 May 2020

H W Müller

5

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6792531&resulttype=core&format=json

12 May 2020

language of work or name

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publication date

1 January 1998

1 reference

Europe PubMed Central

PubMed publication ID

26 September 2017

Journal of Neuroscience

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6792531&resulttype=core&format=json

12 May 2020

18

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6792531&resulttype=core&format=json

12 May 2020

2

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6792531&resulttype=core&format=json

12 May 2020

731-740

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6792531&resulttype=core&format=json

12 May 2020

Endoplasmicreticulum-induced signal transduction and gene expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Conformational maturation of CFTR but not its mutant counterpart (delta F508) occurs in the endoplasmic reticulum and requires ATP

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Biology and Genetics of Hereditary Motor and Sensory Neuropathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The common variant of cystic fibrosis transmembrane conductance regulator is recognized by hsp70 and degraded in a pre-Golgi nonlysosomal compartment

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Accumulation of peripheral myelin protein 22 in onion bulbs and Schwann cells of biopsied nerves from patients with Charcot-Marie-Tooth disease type 1A

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Apoptotic phenotype induced by overexpression of wild-type gas3/PMP22: its relation to the demyelinating peripheral neuropathy CMT1A.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Site-directed mutagenesis by overlap extension using the polymerase chain reaction

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Studies on the effects of altered PMP22 expression during myelination in vitro

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Impaired differentiation of Schwann cells in transgenic mice with increased PMP22 gene dosage

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

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/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Alzheimer-associated presenilins 1 and 2: neuronal expression in brain and localization to intracellular membranes in mammalian cells.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Defective protein folding as a basis of human disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Axon-regulated expression of a Schwann cell transcript that is homologous to a 'growth arrest-specific' gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A transgenic rat model of Charcot-Marie-Tooth disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Improved culture methods to expand Schwann cells with altered growth behaviour from CMT1A patients

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Ins and outs of peripheral myelin protein-22: mapping transmembrane topology and intracellular sorting

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Charcot-Marie-Tooth disease and related peripheral neuropathies

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Widespread expression of the peripheral myelin protein-22 gene (PMP22) in neural and non-neural tissues during murine development

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

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

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Advances in Charcot-Marie-Tooth disease research: cellular function of CMT-related proteins, transgenic animal models, and pathomechanisms. The European CMT Consortium

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Retroviral-mediated gene transfer of the peripheral myelin protein PMP22 in Schwann cells: modulation of cell growth

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The ER-overload response: activation of NF-kappa B.

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Trembler mouse carries a point mutation in a myelin gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://pubmed.ncbi.nlm.nih.gov/9425015

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1523/JNEUROSCI.18-02-00731.1998

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6792531&resulttype=core&format=json

12 May 2020

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6792531&resulttype=core&format=json

12 May 2020

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=PMCID:PMC6792531&resulttype=core&format=json

12 May 2020

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