(Q35946550)

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The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset

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scholarly article

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Europe PubMed Central

11 August 2017

The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset (English)

1 reference

Europe PubMed Central

11 August 2017

autosomal recessive lower motor neuron disease with childhood onset

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motor neuron disease

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based on heuristic

inferred from title

object named as

Etienne Sokal

9

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10

object named as

Arnold Munnich

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Europe PubMed Central

11 August 2017

Christine Verellen-Dumoulin

12

object named as

Christine Verellen-Dumoulin

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Europe PubMed Central

11 August 2017

author name string

Isabelle Maystadt

1

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Europe PubMed Central

11 August 2017

René Rezsöhazy

2

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Europe PubMed Central

11 August 2017

Martine Barkats

3

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Europe PubMed Central

11 August 2017

Sandra Duque

4

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Europe PubMed Central

11 August 2017

Pascal Vannuffel

5

1 reference

Europe PubMed Central

11 August 2017

Sophie Remacle

6

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Europe PubMed Central

11 August 2017

Barbara Lambert

7

1 reference

Europe PubMed Central

11 August 2017

Mustapha Najimi

8

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Europe PubMed Central

11 August 2017

Louis Viollet

11

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11 August 2017

language of work or name

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publication date

16 May 2007

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Europe PubMed Central

11 August 2017

American Journal of Human Genetics

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Europe PubMed Central

11 August 2017

81

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Europe PubMed Central

11 August 2017

1

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Europe PubMed Central

11 August 2017

67-76

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Europe PubMed Central

11 August 2017

Expression of expanded polyglutamine proteins suppresses the activation of transcription factor NFkappaB.

1 reference

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The role of protein aggregates in neuronal pathology: guilty, innocent, or just trying to help?

1 reference

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Drosophila RhoGEF4 encodes a novel RhoA-specific guanine exchange factor that is highly expressed in the embryonic central nervous system

1 reference

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The Dbs PH domain contributes independently to membrane targeting and regulation of guanine nucleotide-exchange activity

1 reference

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Role of neurofilament aggregation in motor neuron disease

1 reference

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Genetics of motor neuron disease

1 reference

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2 October 2017

The molecular genetics of non-ALS motor neuron diseases.

1 reference

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The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function

1 reference

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A motor neuron disease-associated mutation in p150Glued perturbs dynactin function and induces protein aggregation

1 reference

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2 October 2017

RNA-binding protein is involved in aggregation of light neurofilament protein and is implicated in the pathogenesis of motor neuron degeneration

1 reference

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2 October 2017

Mutations in dynamin 2 cause dominant centronuclear myopathy

1 reference

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Structural properties and neuronal toxicity of amyotrophic lateral sclerosis-associated Cu/Zn superoxide dismutase 1 aggregates.

1 reference

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2 October 2017

Neuroprotection by stem cell factor in rat cortical neurons involves AKT and NFkappaB.

1 reference

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2 October 2017

Molecular mechanisms of cytokine-induced neuroprotection: NFkappaB and neuroplasticity.

1 reference

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2 October 2017

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

A Rac1/phosphatidylinositol 3-kinase/Akt3 anti-apoptotic pathway, triggered by AlsinLF, the product of the ALS2 gene, antagonizes Cu/Zn-superoxide dismutase (SOD1) mutant-induced motoneuronal cell death

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Dysregulation of stathmin, a microtubule-destabilizing protein, and up-regulation of Hsp25, Hsp27, and the antioxidant peroxiredoxin 6 in a mouse model of familial amyotrophic lateral sclerosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Molecular genetics of distal hereditary motor neuropathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Protein aggregation and neurodegenerative disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Unraveling the mechanisms involved in motor neuron degeneration in ALS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Mutant small heat-shock protein 27 causes axonal Charcot-Marie-Tooth disease and distal hereditary motor neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

3' untranslated region in a light neurofilament (NF-L) mRNA triggers aggregation of NF-L and mutant superoxide dismutase 1 proteins in neuronal cells.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Alsin, the product of ALS2 gene, suppresses SOD1 mutant neurotoxicity through RhoGEF domain by interacting with SOD1 mutants

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Unstable mutants in the peripheral endosomal membrane component ALS2 cause early-onset motor neuron disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Protein aggregation in motor neurone disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

The first nonsense mutation in alsin results in a homogeneous phenotype of infantile-onset ascending spastic paralysis with bulbar involvement in two siblings

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Kalirin Dbl-homology guanine nucleotide exchange factor 1 domain initiates new axon outgrowths via RhoG-mediated mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

The Human Rho-GEF trio and its target GTPase RhoG are involved in the NGF pathway, leading to neurite outgrowth

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Mutations in the gene encoding immunoglobulin mu-binding protein 2 cause spinal muscular atrophy with respiratory distress type 1

1 reference

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2 October 2017

The PH superfold: a structural scaffold for multiple functions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Inhibition of NF-kappaB potentiates amyloid beta-mediated neuronal apoptosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Aggresomes: a cellular response to misfolded proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

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Dbl family proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Motor neuron degeneration in mice that express a human Cu,Zn superoxide dismutase mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Pleckstrin homology domains bind to phosphatidylinositol-4,5-bisphosphate.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

Identification and characterization of a spinal muscular atrophy-determining gene

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

2 October 2017

A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

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The guanine nucleotide exchange factor Tiam1 affects neuronal morphology; opposing roles for the small GTPases Rac and Rho.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

27 July 2018

Activation of the nuclear factor-kappaB by Rho, CDC42, and Rac-1 proteins

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

27 July 2018

Neuroblastoma x spinal cord (NSC) hybrid cell lines resemble developing motor neurons

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27 July 2018

Neurodegeneration and neuroprotection in multiple sclerosis and other neurodegenerative diseases.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

24 September 2018

A gene for an autosomal recessive lower motor neuron disease with childhood onset maps to 1p36.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

24 September 2018

Huntingtin and mutant SOD1 form aggregate structures with distinct molecular properties in human cells

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

24 September 2018

Neuroprotection by transforming growth factor-beta1 involves activation of nuclear factor-kappaB through phosphatidylinositol-3-OH kinase/Akt and mitogen-activated protein kinase-extracellular-signal regulated kinase1,2 signaling pathways.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

24 September 2018

Mutant dynactin in motor neuron disease.

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

24 September 2018

93rd ENMC international workshop: non-5q-spinal muscular atrophies (SMA) - clinical picture (6-8 April 2001, Naarden, The Netherlands).

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24 September 2018

NFkappaB activation is required for the neuroprotective effects of pigment epithelium-derived factor (PEDF) on cerebellar granule neurons

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24 September 2018

Differential and opposed transcriptional effects of protein fusions containing the VP16 activation domain.

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24 September 2018

AnALS2gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1950913

14 November 2018

Multiple signalling pathways lead to the activation of the nuclear factor kappaB by the Rho family of GTPases

1 reference

https://pubmed.ncbi.nlm.nih.gov/17564964

12 December 2020

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A pathway of neuronal apoptosis induced by hypoxia/reoxygenation: roles of nuclear factor-kappaB and Bcl-2

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https://pubmed.ncbi.nlm.nih.gov/17564964

12 December 2020

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Europe PubMed Central

11 August 2017

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Europe PubMed Central

11 August 2017

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Europe PubMed Central

11 August 2017

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