(Q33749062)

29 July 2017

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

1 reference

amyotrophic lateral sclerosis

29 July 2017

0 references

Emily F Goodall

3

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Heather Mortiboys

Heather Mortiboys

6

0 references

Laura Ferraiuolo

Laura Ferraiuolo

2

0 references

Andrew Grierson

Andrew J Grierson

13

0 references

Janine Kirby

Janine Kirby

15

0 references

Paul Ince

Paul G Ince

14

0 references

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

1 reference

29 July 2017

Adrian Higginbottom

5

1 reference

29 July 2017

Hannah C Hollinger

7

1 reference

29 July 2017

Judith A Hartley

8

1 reference

29 July 2017

Alice Brockington

9

1 reference

29 July 2017

Christine E Burness

10

1 reference

29 July 2017

Karen E Morrison

11

1 reference

29 July 2017

Stephen B Wharton

12

1 reference

29 July 2017

language of work or name

English

0 references

publication date

24 March 2010

1 reference

29 July 2017

1 reference

29 July 2017

5

1 reference

29 July 2017

3

1 reference

29 July 2017

e9872

1 reference

Creative Commons Attribution 4.0 International

29 July 2017

start time

24 March 2010

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

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

cites work

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Inhibition of autophagy induction delays neuronal cell loss caused by dysfunctional ESCRT-III in frontotemporal dementia

21 June 2018

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Molecular neuropathology of TDP-43 proteinopathies

21 June 2018

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Trafficking and function of the tetraspanin CD63.

21 June 2018

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Role of axonal transport in neurodegenerative diseases

21 June 2018

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TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosis

21 June 2018

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Mitochondria: the hub of cellular Ca2+ signaling

21 June 2018

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21 June 2018

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The Atg1 kinase complex is involved in the regulation of protein recruitment to initiate sequestering vesicle formation for nonspecific autophagy in Saccharomyces cerevisiae

21 June 2018

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Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease

21 June 2018

1 reference

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CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

21 June 2018

1 reference

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Microarray analysis of the cellular pathways involved in the adaptation to and progression of motor neuron injury in the SOD1 G93A mouse model of familial ALS.

21 June 2018

1 reference

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ESCRT-III dysfunction causes autophagosome accumulation and neurodegeneration

21 June 2018

1 reference

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Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration.

21 June 2018

1 reference

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Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosis

21 June 2018

1 reference

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Autophagy and neurodegeneration: when the cleaning crew goes on strike

21 June 2018

1 reference

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Control of the autophagy maturation step by the MAPK ERK and p38: lessons from environmental carcinogens

21 June 2018

1 reference

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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

1 reference

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

The MAP1 family of microtubule-associated proteins

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

Fragmentation of the Golgi apparatus in neurodegenerative diseases and cell death

21 June 2018

1 reference

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

CHMP2B mutations are not a common cause of frontotemporal lobar degeneration

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

Endoplasmic reticulum stress response and neurodegeneration

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

Molecular and cellular pathways of neurodegeneration in motor neurone disease

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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Upstream and downstream of mTOR

21 June 2018

1 reference

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Mnk2 and Mnk1 are essential for constitutive and inducible phosphorylation of eukaryotic initiation factor 4E but not for cell growth or development

21 June 2018

1 reference

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ERK and p38 MAPK-activated protein kinases: a family of protein kinases with diverse biological functions

21 June 2018

1 reference

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Phosphorylation of eucaryotic translation initiation factor 4B Ser422 is modulated by S6 kinases

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

Use1p is a yeast SNARE protein required for retrograde traffic to the ER.

21 June 2018

1 reference

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

Heat Shock Protein 27 Controls Apoptosis by Regulating Akt Activation

21 June 2018

1 reference

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

DAVID: Database for Annotation, Visualization, and Integrated Discovery

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

Corticospinal tract degeneration in the progressive muscular atrophy variant of ALS

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

Phosphatidic acid-mediated mitogenic activation of mTOR signaling

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

British motor neuron disease twin study

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

Amplified RNA synthesized from limited quantities of heterogeneous cDNA.

21 June 2018

1 reference

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

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

21 June 2018

1 reference

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

In search of an "autophagomometer".

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

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

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

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

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

Motor neuron disease in a patient with a mitochondrial tRNAIle mutation

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

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

1 reference

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

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

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

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

10 December 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

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

1 reference

29 July 2017

0 references

1 reference

29 July 2017

1 reference