Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis. (Q47073445)

5 January 2018

title

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis. (English)

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5 January 2018

amyotrophic lateral sclerosis

main subject

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VAMP (vesicle-associated membrane protein)-associated protein B and C

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GOA release 2020-03-11

18

Guy A Rouleau

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Valérie Bercier

3

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Paul N. Valdmanis

Paul N Valdmanis

5

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Patrick A Dion

8

Patrick A Dion

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9

Nicolas Dupre

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14

Vincent Meininger

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17

Pierre Drapeau

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William Camu

13

William Camu

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Edor Kabashi

1

Edor Kabashi

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Jonathan McDearmid

6

Jonathan McDearmid

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Frédérique René

16

Frédérique René

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Jean-Philippe Loeffler

15

Jean-Philippe Loeffler

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author name string

Hajer El Oussini

2

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François Gros-Louis

4

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Inge A Mejier

7

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David Hollinger

10

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Jérome Sinniger

11

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Sylvie Dirrig-Grosch

12

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Luc Dupuis

19

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publication date

26 February 2013

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5 January 2018

published in

Human Molecular Genetics

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volume

22

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5 January 2018

page(s)

2350-2360

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issue

12

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Amyotrophic lateral sclerosis

cites work

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Genetics of familial and sporadic amyotrophic lateral sclerosis

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Cholesterol sensor ORP1L contacts the ER protein VAP to control Rab7-RILP-p150 Glued and late endosome positioning

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

VAPB interacts with and modulates the activity of ATF6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

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.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Widespread aggregation of mutant VAPB associated with ALS does not cause motor neuron degeneration or modulate mutant SOD1 aggregation and toxicity in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Methylene blue protects against TDP-43 and FUS neuronal toxicity in C. elegans and D. rerio

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

AAV-mediated expression of wild-type and ALS-linked mutant VAPB selectively triggers death of motoneurons through a Ca2+-dependent ER-associated pathway.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

A role for motoneuron subtype-selective ER stress in disease manifestations of FALS mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Spinal cord endoplasmic reticulum stress associated with a microsomal accumulation of mutant superoxide dismutase-1 in an ALS model

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

ATF6alpha optimizes long-term endoplasmic reticulum function to protect cells from chronic stress

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Secreted VAPB/ALS8 major sperm protein domains modulate mitochondrial localization and morphology via growth cone guidance receptors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Neuromuscular junction destruction during amyotrophic lateral sclerosis: insights from transgenic models

21 January 2018

1 reference

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Segregation of axial motor and sensory pathways via heterotypic trans-axonal signaling

21 January 2018

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EPHA4 is a disease modifier of amyotrophic lateral sclerosis in animal models and in humans

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Evidence for an oligogenic basis of amyotrophic lateral sclerosis

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Energy metabolism in amyotrophic lateral sclerosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Degeneration of serotonergic neurons in amyotrophic lateral sclerosis: a link to spasticity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Behavioral and functional analysis of mouse phenotype: SHIRPA, a proposed protocol for comprehensive phenotype assessment

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Mice with a mutation in the dynein heavy chain 1 gene display sensory neuropathy but lack motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Muscle mitochondrial uncoupling dismantles neuromuscular junction and triggers distal degeneration of motor neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Mutations in cytoplasmic dynein lead to a Huntington's disease-like defect in energy metabolism of brown and white adipose tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Rapid Detection of CYP1A1, CYP2D6, and NAT Variants by Multiplex Polymerase Chain Reaction and Allele-Specific Oligonucleotide Assay

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

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

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

Amyotrophic lateral sclerosis

21 January 2018

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https://api.crossref.org/works/10.1093%2FHMG%2FDDT080

21 January 2018

Identifiers

DOI

10.1093/HMG/DDT080

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5 January 2018

PubMed ID

23446633

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5 January 2018