Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder (Q28115733)

3 January 2017

title

Myelin-associated glycoprotein gene mutation causes Pelizaeus-Merzbacher disease-like disorder (English)

1 reference

myelin associated glycoprotein

3 January 2017

main subject

1 reference

GOA release 2020-03-11

author

Nicole Schaeren-Wiemers

16

object named as

Nicole Schaeren-Wiemers

0 references

Ora Schueler-Furman

4

object named as

Ora Schueler-Furman

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Elior Peles

object named as

Elior Peles

22

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author name string

Alexander Lossos

2

1

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Nimrod Elazar

2

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3 January 2017

Israela Lerer

3

1 reference

3 January 2017

Yakov Fellig

5

1 reference

3 January 2017

Benjamin Glick

6

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3 January 2017

Bat-El Zimmerman

7

1 reference

3 January 2017

Haim Azulay

8

1 reference

3 January 2017

Shlomo Dotan

9

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3 January 2017

Sharon Goldberg

10

1 reference

3 January 2017

John M. Gomori

11

1 reference

3 January 2017

Penina Ponger

12

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3 January 2017

J. P. Newman

13

1 reference

3 January 2017

Hodaifah Marreed

14

1 reference

3 January 2017

Andreas J. Steck

15

1 reference

3 January 2017

Nofar Mor

17

1 reference

3 January 2017

Michal Harel

18

1 reference

3 January 2017

Tamar Geiger

19

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3 January 2017

Yael Eshed-Eisenbach

20

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3 January 2017

Vardiella Meiner

21

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3 January 2017

language of work or name

English

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publication date

1 September 2015

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3 January 2017

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3 January 2017

volume

138

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3 January 2017

issue

Pt 9

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3 January 2017

page(s)

2521–2536

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describes a project that uses

3 January 2017

Cytoscape

1 reference

Europe PubMed Central

9 June 2022

https://europepmc.org/search?query=(METHODS:'Cytoscape')

inferred from PubMed Central ID database lookup

cites work

OS-9 and GRP94 deliver mutant alpha1-antitrypsin to the Hrd1-SEL1L ubiquitin ligase complex for ERAD

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Identification of a novel contactin-associated transmembrane receptor with multiple domains implicated in protein-protein interactions

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

I-TASSER: a unified platform for automated protein structure and function prediction

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

SMART 7: recent updates to the protein domain annotation resource

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

A novel 115-kD peripheral membrane protein is required for intercisternal transport in the Golgi stack

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Caspr regulates the processing of contactin and inhibits its binding to neurofascin

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Hypomyelinating leukodystrophies: translational research progress and prospects

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Crystal structure of the N-terminal domain of sialoadhesin in complex with 3' sialyllactose at 1.85 A resolution

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Reconstitution of retrograde transport from the Golgi to the ER in vitro

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

A de novo TUBB4A mutation in a patient with hypomyelination mimicking Pelizaeus-Merzbacher disease

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Myelin-associated glycoprotein (MAG): past, present and beyond

20 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

20 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

ERAD: the long road to destruction

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Protein homology detection by HMM-HMM comparison

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Retention of unassembled components of integral membrane proteins by calnexin

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Protein folding in the cell: functions of two families of molecular chaperone, hsp 60 and TF55-TCP1

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Andromeda: a peptide search engine integrated into the MaxQuant environment

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Roles of N-linked glycans in the endoplasmic reticulum

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Accurate proteome-wide label-free quantification by delayed normalization and maximal peptide ratio extraction, termed MaxLFQ.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Myelin-specific proteins: a structurally diverse group of membrane-interacting molecules

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Pelizaeus-Merzbacher disease, Pelizaeus-Merzbacher-like disease 1, and related hypomyelinating disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Axonal protective effects of the myelin-associated glycoprotein

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Coordinated lipid transfer between the endoplasmic reticulum and the Golgi complex requires the VAP proteins and is essential for Golgi-mediated transport

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Classification of childhood white matter disorders using proton MR spectroscopic imaging

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

A central role for Necl4 (SynCAM4) in Schwann cell-axon interaction and myelination

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

In vivo imaging and differential localization of lipid-modified GFP-variant fusions in embryonic stem cells and mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Differential expression of L- and S-MAG upon cAMP stimulated differentiation in oligodendroglial cells

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

The glycosylphosphatidyl inositol-anchored adhesion molecule F3/contactin is required for surface transport of paranodin/contactin-associated protein (caspr)

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Role and regulation of the ER chaperone BiP.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Regulation of myelin-associated glycoprotein binding by sialylated cis-ligands.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

HomozygosityMapper--an interactive approach to homozygosity mapping

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

The expression of recombinant large myelin-associated glycoprotein cytoplasmic domain and the purification of native myelin-associated glycoprotein from rat brain and peripheral nerve

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Association of folding intermediates of glycoproteins with calnexin during protein maturation

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Functional topography of myelin-associated glycoprotein. II. Mapping of domains on molecular fragments

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Myelination in the absence of myelin-associated glycoprotein

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

The Epitope(s) Recognized by HNK-1 Antibody and IgM Paraprotein in Neuropathy Is Present on Several N-Linked Oligosaccharide Structures on Human P0and Myelin-Associated Glycoprotein

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4643626

Gliomedin mediates Schwann cell-axon interaction and the molecular assembly of the nodes of Ranvier.

2 June 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV204

Expanding the phenotypic spectrum of TUBB4A-associated hypomyelinating leukoencephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV204

Mice deficient for the myelin-associated glycoprotein show subtle abnormalities in myelin.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV204

Nerve conduction abnormalities in aging mice deficient for myelin-associated glycoprotein

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWV204

Crucial role for the myelin-associated glycoprotein in the maintenance of axon-myelin integrity

21 January 2018

1 reference

12 December 2020

The Cavβ subunit prevents RFP2-mediated ubiquitination and proteasomal degradation of L-type channels

1 reference

12 December 2020

Role of Myelin-Associated Glycoprotein (Siglec-4a) in the Nervous System

1 reference

12 December 2020

Dying‐back oligodendrogliopathy: A late sequel of myelin‐associated glycoprotein deficiency

1 reference

12 December 2020