(Q35175041)

6 August 2017

title

Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients (English)

1 reference

6 August 2017

12

Mayana Zatz

1 reference

6 August 2017

Hugo J Bellen

7

0 references

Maria C N Marchetto

3

object named as

Maria C N Marchetto

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6 August 2017

11

Alysson R Muotri

1 reference

6 August 2017

Miguel Mitne-Neto

1

1 reference

6 August 2017

Marcela Machado-Costa

2

1 reference

6 August 2017

Mario H Bengtson

4

1 reference

6 August 2017

Claudio A Joazeiro

5

1 reference

6 August 2017

Hiroshi Tsuda

6

1 reference

6 August 2017

Helga C A Silva

8

1 reference

6 August 2017

Acary S B Oliveira

9

1 reference

6 August 2017

Monize Lazar

10

1 reference

6 August 2017

publication date

17 June 2011

1 reference

6 August 2017

published in

Human Molecular Genetics

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6 August 2017

volume

20

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6 August 2017

issue

18

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6 August 2017

page(s)

3642-3652

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describes a project that uses

6 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3159551/fullTextXML

inferred from PubMed Central ID database lookup

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Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis

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The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case

28 July 2018

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Elimination of the native structure and solubility of the hVAPB MSP domain by the Pro56Ser mutation that causes amyotrophic lateral sclerosis

28 July 2018

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ALS-linked P56S-VAPB, an aggregated loss-of-function mutant of VAPB, predisposes motor neurons to ER stress-related death by inducing aggregation of co-expressed wild-type VAPB.

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The amyotrophic lateral sclerosis 8 protein VAPB is cleaved, secreted, and acts as a ligand for Eph receptors

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A Drosophila model of ALS: human ALS-associated mutation in VAP33A suggests a dominant negative mechanism

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28 July 2018

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hVAPB, the causative gene of a heterogeneous group of motor neuron diseases in humans, is functionally interchangeable with its Drosophila homologue DVAP-33A at the neuromuscular junction

28 July 2018

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A mutation in human VAP-B--MSP domain, present in ALS patients, affects the interaction with other cellular proteins

28 July 2018

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Molecular biology of amyotrophic lateral sclerosis: insights from genetics

28 July 2018

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28 July 2018

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Structural basis of FFAT motif-mediated ER targeting

28 July 2018

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

28 July 2018

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

28 July 2018

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

28 July 2018

1 reference

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Mouse VAP33 is associated with the endoplasmic reticulum and microtubules

28 July 2018

1 reference

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

28 July 2018

1 reference

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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

28 July 2018

1 reference

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ALS-linked SOD1 mutant G85R mediates damage to astrocytes and promotes rapidly progressive disease with SOD1-containing inclusions.

28 July 2018

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159551

The ALS8-associated mutant VAPB(P56S) is resistant to proteolysis in neurons

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159551

Superoxide dismutase-1 and other proteins in inclusions from transgenic amyotrophic lateral sclerosis model mice.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159551

Amyotrophic lateral sclerosis mutant vesicle-associated membrane protein-associated protein-B transgenic mice develop TAR-DNA-binding protein-43 pathology.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159551

Electrostatic interaction between oxysterol-binding protein and VAMP-associated protein A revealed by NMR and mutagenesis studies

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159551

Treatment with lithium carbonate does not improve disease progression in two different strains of SOD1 mutant mice

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159551

Mutations in the FUS/TLS gene on chromosome 16 cause familial amyotrophic lateral sclerosis

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159551

FFAT rescues VAPA-mediated inhibition of ER-to-Golgi transport and VAPB-mediated ER aggregation

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159551

Vesicle associated membrane protein B (VAPB) is decreased in ALS spinal cord.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159551

Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159551

New VAPB deletion variant and exclusion of VAPB mutations in familial ALS.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159551

Induction of pluripotent stem cells from adult human fibroblasts by defined factors

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159551

Motor neuron disease-associated mutant vesicle-associated membrane protein-associated protein (VAP) B recruits wild-type VAPs into endoplasmic reticulum-derived tubular aggregates.

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159551

Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8)

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159551

Amyotrophic lateral sclerosis

27 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3159551

A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population

27 September 2018

1 reference

12 December 2020

Proteasome inhibitor drugs on the rise

1 reference

12 December 2020

VAPB: new genetic clues to the pathogenesis of ALS

1 reference

12 December 2020

A VAPB mutant linked to amyotrophic lateral sclerosis generates a novel form of organized smooth endoplasmic reticulum

1 reference

12 December 2020

SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype-phenotype correlations

1 reference

12 December 2020

Identifiers

DOI

10.1093/HMG/DDR284

1 reference

6 August 2017

1 reference

6 August 2017

1 reference