Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy. (Q41928388)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9151736%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

title

Upregulation of the endosomal-lysosomal pathway in the trembler-J neuropathy (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9151736%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

E M Shooter

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9151736%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

L Notterpek

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9151736%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

G J Snipes

series ordinal

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9151736%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

language of work or name

English

0 references

publication date

1 June 1997

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9151736%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

published in

Journal of Neuroscience

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9151736%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9151736%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9151736%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

page(s)

4190-4200

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9151736%20AND%20SRC:MED&resulttype=core&format=json

Elevated expression of messenger RNA for peripheral myelin protein 22 in biopsied peripheral nerves of patients with Charcot-Marie-Tooth disease type 1A

3 November 2019

cites work

1 reference

12 December 2020

Expression of the PMP-22 gene in Trembler mutant mice: comparison with the other myelin protein genes

1 reference

12 December 2020

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

1 reference

12 December 2020

Proteolipid protein interactions in transfectants: implications for myelin assembly

1 reference

12 December 2020

Kinetics of intracellular transport and sorting of lysosomal membrane and plasma membrane proteins

1 reference

12 December 2020

Degradation of proteins within the endoplasmic reticulum

1 reference

12 December 2020

Biology and Genetics of Hereditary Motor and Sensory Neuropathies

1 reference

12 December 2020

Ultrastructural PMP22 expression in inherited demyelinating neuropathies

1 reference

12 December 2020

Development of onion bulb neuropathy in the Tremebler mouse. Morphometric study

1 reference

12 December 2020

Peripheral myelin protein 22: facts and hypotheses

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

1 reference

12 December 2020

Myelinated nerve fibres in the CNS.

1 reference

12 December 2020

Peripheral myelin protein-22 expression in Charcot-Marie-Tooth disease type 1a sural nerve biopsies

1 reference

12 December 2020

Morphometric analysis of normal, mutant, and transgenic CNS: correlation of myelin basic protein expression to myelinogenesis

1 reference

12 December 2020

The biogenesis of lysosomes

1 reference

12 December 2020

Myelin-associated glycoprotein and other proteins in Trembler mice

1 reference

12 December 2020

Myelin Basic Protein Deposition in the Optic and Sciatic Nerves of Dysmyelinating Mutants Quaking, Jimpy, Trembler, MLD, and Shiverer During Development

1 reference

12 December 2020

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

1 reference

12 December 2020

Identification of two lysosomal membrane glycoproteins

1 reference

12 December 2020

P0 protein in normal, trembler heterozygous/homozygous mice during active PNS myelination

1 reference

12 December 2020

Nerve conduction studies in Charcot-Marie-Tooth polyneuropathy associated with a segmental duplication of chromosome 17

1 reference

12 December 2020

Redistribution of mannose-6-phosphate receptors induced by tunicamycin and chloroquine

1 reference

12 December 2020

Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations

1 reference

12 December 2020

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

1 reference

12 December 2020

Hypermyelination and demyelinating peripheral neuropathy in Pmp22-deficient mice

1 reference

12 December 2020

Molecular anatomy and genetics of myelin proteins in the peripheral nervous system

1 reference

12 December 2020

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

1 reference

12 December 2020

Penetrance of the hereditary motor and sensory neuropathy Ia mutation: assessment by nerve conduction studies

1 reference

12 December 2020

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

1 reference

12 December 2020

Cellular and molecular aspects of myelin protein gene expression

1 reference

12 December 2020

Gene expression and cellular content of cathepsin D in Alzheimer's disease brain: Evidence for early up-regulation of the endosomal-lysosomal system

1 reference

12 December 2020

Intracellular protein trafficking defects in human disease

1 reference

12 December 2020

A transgenic rat model of Charcot-Marie-Tooth disease

1 reference

12 December 2020

The murine mutation trembler-J: proof of semidominant expression by use of the linked vestigial tail marker

1 reference

12 December 2020

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

1 reference

12 December 2020

Neurological mouse mutants and the genes of myelin

1 reference

12 December 2020

Recombinant myelin-associated glycoprotein confers neural adhesion and neurite outgrowth function

1 reference

12 December 2020

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

12 December 2020

Genetic and clinical aspects of Charcot-Marie-Tooth's disease

1 reference

12 December 2020

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

1 reference

12 December 2020

Presence of the myelin-associated glycoprotein correlates with alterations in the periodicity of peripheral myelin

1 reference

12 December 2020

Comparison of Trembler and Trembler-J mouse phenotypes: varying severity of peripheral hypomyelination

1 reference

12 December 2020

Distribution of P0 protein and the myelin-associated glycoprotein in peripheral nerves from Trembler mice

1 reference

12 December 2020

Immunoelectron microscopic localization of neural cell adhesion molecules (L1, N-CAM, and MAG) and their shared carbohydrate epitope and myelin basic protein in developing sciatic nerve

1 reference

12 December 2020

Protein zero of peripheral nerve myelin: biosynthesis, membrane insertion, and evidence for homotypic interaction.

1 reference

12 December 2020

Uniform slowing of conduction velocities in Charcot-Marie-Tooth polyneuropathy type 1

1 reference

12 December 2020

Long lives for homozygous trembler mutant mice despite virtual absence of peripheral nerve myelin

1 reference

12 December 2020

Trembler mouse carries a point mutation in a myelin gene

1 reference

12 December 2020

10.1523/JNEUROSCI.17-11-04190.1997

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9151736%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9151736%20AND%20SRC:MED&resulttype=core&format=json

3 November 2019

PubMed publication ID

9151736

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9151736%20AND%20SRC:MED&resulttype=core&format=json