(Q24304337)

4 July 2017

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis (English)

1 reference

amyotrophic lateral sclerosis

4 July 2017

0 references

spinal muscular atrophy

1 reference

VAMP associated protein B and C

inferred from title

1 reference

GOA release 2020-03-11

1 reference

6

0 references

Mayana Zatz

12

object named as

Mayana Zatz

1 reference

4 July 2017

Agnes L Nishimura

1

0 references

Thomas H. Gillingwater

object named as

Tom Gillingwater

9

0 references

author name string

Miguel Mitne-Neto

2

1 reference

4 July 2017

Helga C A Silva

3

1 reference

4 July 2017

Antônio Richieri-Costa

4

1 reference

4 July 2017

Susan Middleton

5

1 reference

4 July 2017

Fernando Kok

7

1 reference

4 July 2017

João R M Oliveira

8

1 reference

4 July 2017

Jeanette Webb

10

1 reference

4 July 2017

Paul Skehel

11

1 reference

4 July 2017

Duilio Cascio

6

1 reference

4 July 2017

language of work or name

English

0 references

publication date

15 September 2004

1 reference

American Journal of Human Genetics

4 July 2017

1 reference

4 July 2017

75

1 reference

4 July 2017

5

1 reference

4 July 2017

822-831

1 reference

DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)

4 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

A conserved ER targeting motif in three families of lipid binding proteins and in Opi1p binds VAP

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

Molecular cloning and characterization of mammalian homologues of vesicle-associated membrane protein-associated (VAMP-associated) proteins

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

Identification of a human homologue of the vesicle-associated membrane protein (VAMP)-associated protein of 33 kDa (VAP-33): a broadly expressed protein that binds to VAMP

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

2.5 A resolution crystal structure of the motile major sperm protein (MSP) of Ascaris suum

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

The Saccharomyces cerevisiae SCS2 gene product, a homolog of a synaptobrevin-associated protein, is an integral membrane protein of the endoplasmic reticulum and is required for inositol metabolism

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

A sperm cytoskeletal protein that signals oocyte meiotic maturation and ovulation

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

Mouse VAP33 is associated with the endoplasmic reticulum and microtubules

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

A VAMP-binding protein from Aplysia required for neurotransmitter release

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

Enhanced genome annotation using structural profiles in the program 3D-PSSM

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

Senataxin, the ortholog of a yeast RNA helicase, is mutant in ataxia-ocular apraxia 2.

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

The 10 autosomal recessive limb-girdle muscular dystrophies

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

The directional atomic solvation energy: an atom-based potential for the assignment of protein sequences to known folds.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

Drosophila VAP-33A directs bouton formation at neuromuscular junctions in a dosage-dependent manner

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

Vesicle-associated membrane protein-associated protein-A (VAP-A) interacts with the oxysterol-binding protein to modify export from the endoplasmic reticulum.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

ERG30, a VAP-33-related protein, functions in protein transport mediated by COPI vesicles

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

A functional role for VAP-33 in insulin-stimulated GLUT4 traffic

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

NMDA and non-NMDA receptors are co-localized at individual excitatory synapses in cultured rat hippocampus

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

AnALS2gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1182111

SMN1 gene study in three families in which ALS and spinal muscular atrophy co-exist

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15372378

12 December 2020

inferred from PubMed ID database lookup

Autosomal dominant late adult spinal muscular atrophy, type Finkel

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15372378

12 December 2020

inferred from PubMed ID database lookup

Fast, convenient, and effective method to transiently transfect primary hippocampal neurons

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/15372378

12 December 2020

inferred from PubMed ID database lookup

Identifiers

DOI

10.1086/425287

1 reference

OpenCitations bibliographic resource ID

4 July 2017

1676884

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

4 July 2017

1 reference