Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). (Q33749062)

29 July 2017

Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). (English)

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amyotrophic lateral sclerosis

29 July 2017

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Emily F Goodall

3

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Heather Mortiboys

Heather Mortiboys

6

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Laura Ferraiuolo

Laura Ferraiuolo

2

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Andrew Grierson

Andrew J Grierson

13

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Janine Kirby

Janine Kirby

15

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Paul Ince

Paul G Ince

14

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Pamela Shaw

Pamela J Shaw

16

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author name string

Laura E Cox

1

1 reference

29 July 2017

Paul R Heath

4

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29 July 2017

Adrian Higginbottom

5

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29 July 2017

Hannah C Hollinger

7

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29 July 2017

Judith A Hartley

8

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29 July 2017

Alice Brockington

9

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29 July 2017

Christine E Burness

10

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29 July 2017

Karen E Morrison

11

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29 July 2017

Stephen B Wharton

12

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29 July 2017

language of work or name

English

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publication date

24 March 2010

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29 July 2017

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29 July 2017

5

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29 July 2017

3

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29 July 2017

e9872

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Creative Commons Attribution 4.0 International

29 July 2017

start time

24 March 2010

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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describes a project that uses

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC2844426/fullTextXML

inferred from PubMed Central ID database lookup

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TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosis

21 June 2018

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The MAP1 family of microtubule-associated proteins

21 June 2018

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Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17

21 June 2018

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ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)

21 June 2018

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The mTOR/PI3K and MAPK pathways converge on eIF4B to control its phosphorylation and activity

21 June 2018

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Loss of autophagy in the central nervous system causes neurodegeneration in mice

21 June 2018

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Suppression of basal autophagy in neural cells causes neurodegenerative disease in mice

21 June 2018

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Fragmentation of the Golgi apparatus in neurodegenerative diseases and cell death

21 June 2018

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CHMP2B mutations are not a common cause of frontotemporal lobar degeneration

21 June 2018

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Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking

21 June 2018

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mTOR and S6K1 mediate assembly of the translation preinitiation complex through dynamic protein interchange and ordered phosphorylation events

21 June 2018

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Endoplasmic reticulum stress response and neurodegeneration

21 June 2018

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Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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Interferon-gamma engages the p70 S6 kinase to regulate phosphorylation of the 40S S6 ribosomal protein

21 June 2018

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21 June 2018

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21 June 2018

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21 June 2018

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GbetaL, a positive regulator of the rapamycin-sensitive pathway required for the nutrient-sensitive interaction between raptor and mTOR

21 June 2018

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Corticospinal tract degeneration in the progressive muscular atrophy variant of ALS

21 June 2018

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Escrt-III: an endosome-associated heterooligomeric protein complex required for mvb sorting

21 June 2018

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Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

21 June 2018

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Phosphatidic acid-mediated mitogenic activation of mTOR signaling

21 June 2018

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Ubiquitin-dependent sorting into the multivesicular body pathway requires the function of a conserved endosomal protein sorting complex, ESCRT-I.

21 June 2018

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The Vps4p AAA ATPase regulates membrane association of a Vps protein complex required for normal endosome function

21 June 2018

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Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.

21 June 2018

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British motor neuron disease twin study

21 June 2018

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Lower motor neuron degeneration and familial predisposition to colonic neoplasia in two adult siblings

21 June 2018

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Amplified RNA synthesized from limited quantities of heterogeneous cDNA.

21 June 2018

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Autophagy defects contribute to neurodegeneration induced by dysfunctional ESCRT-III.

21 June 2018

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In search of an "autophagomometer".

30 October 2018

1 reference

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A rational mechanism for combination treatment of Huntington's disease using lithium and rapamycin.

30 October 2018

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Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.

30 October 2018

1 reference

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Motor neuron disease in a patient with a mitochondrial tRNAIle mutation

30 October 2018

1 reference

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Changes in ribosomal binding activity of eIF3 correlate with increased translation rates during activation of T lymphocytes

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844426

Antisense co-suppression of G(alpha)(q) and G(alpha)(11) demonstrates that both isoforms mediate M(3)-receptor-activated Ca(2+) signalling in intact epithelial cells

30 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2844426

Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALS

30 October 2018

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The Rab5 Activator ALS2/alsin Acts as a Novel Rac1 Effector through Rac1-activated Endocytosis

30 October 2018

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Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosis

10 December 2018

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12 December 2020

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

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12 December 2020

Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patient

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12 December 2020

Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutase

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12 December 2020

CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosis

1 reference

12 December 2020

Genetics of amyotrophic lateral sclerosis

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0009872

Identifiers

DOI

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29 July 2017

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29 July 2017

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