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

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Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS). is …
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scholarly articleQ13442814

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P819ADS bibcode2010PLoSO...5.9872C
P356DOI10.1371/JOURNAL.PONE.0009872
P932PMC publication ID2844426
P698PubMed publication ID20352044
P5875ResearchGate publication ID42639898

P50authorPamela ShawQ20716854
Laura FerraiuoloQ41574303
Emily F. GoodallQ42639679
Paul InceQ42856560
Andrew GriersonQ42874347
Janine KirbyQ38322672
Heather MortiboysQ59572023
P2093author name stringStephen B Wharton
Adrian Higginbottom
Paul R Heath
Karen E Morrison
Alice Brockington
Hannah C Hollinger
Christine E Burness
Judith A Hartley
Laura E Cox
P2860cites workGuidelines for the use and interpretation of assays for monitoring autophagy in higher eukaryotesQ23757358
The mTOR/PI3K and MAPK pathways converge on eIF4B to control its phosphorylation and activityQ24293101
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)Q24294908
A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosisQ24304337
Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementiaQ24309521
The Vps4p AAA ATPase regulates membrane association of a Vps protein complex required for normal endosome functionQ24533245
Phosphorylation of eucaryotic translation initiation factor 4B Ser422 is modulated by S6 kinasesQ24599204
Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT MethodQ25938999
DAVID: Database for Annotation, Visualization, and Integrated DiscoveryQ27499374
Use1p is a yeast SNARE protein required for retrograde traffic to the ER.Q27932856
Ubiquitin-dependent sorting into the multivesicular body pathway requires the function of a conserved endosomal protein sorting complex, ESCRT-I.Q27939053
Escrt-III: an endosome-associated heterooligomeric protein complex required for mvb sortingQ27939994
GbetaL, a positive regulator of the rapamycin-sensitive pathway required for the nutrient-sensitive interaction between raptor and mTORQ28115142
ESCRT-III dysfunction causes autophagosome accumulation and neurodegenerationQ28117494
Suppression of basal autophagy in neural cells causes neurodegenerative disease in miceQ28131756
Loss of autophagy in the central nervous system causes neurodegeneration in miceQ28131804
Corticospinal tract degeneration in the progressive muscular atrophy variant of ALSQ28198830
Phosphatidic acid-mediated mitogenic activation of mTOR signalingQ28208274
Interferon-gamma engages the p70 S6 kinase to regulate phosphorylation of the 40S S6 ribosomal proteinQ28253401
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitroQ40063451
Heat Shock Protein 27 Controls Apoptosis by Regulating Akt ActivationQ40648750
Lower motor neuron degeneration and familial predisposition to colonic neoplasia in two adult siblingsQ41602734
Inhibition of autophagy induction delays neuronal cell loss caused by dysfunctional ESCRT-III in frontotemporal dementiaQ41909984
Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17Q28253651
Upstream and downstream of mTORQ28277365
mTOR and S6K1 mediate assembly of the translation preinitiation complex through dynamic protein interchange and ordered phosphorylation eventsQ28281590
Role of axonal transport in neurodegenerative diseasesQ28284096
CHMP2B mutations are not a common cause of frontotemporal lobar degenerationQ28293304
Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome traffickingQ28505562
ERK and p38 MAPK-activated protein kinases: a family of protein kinases with diverse biological functionsQ29615216
TDP-43 is a component of ubiquitin-positive tau-negative inclusions in frontotemporal lobar degeneration and amyotrophic lateral sclerosisQ29615597
Screening of the transcriptional regulatory regions of vascular endothelial growth factor receptor 2 (VEGFR2) in amyotrophic lateral sclerosisQ33282666
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.Q33294971
TDP-43 is not a common cause of sporadic amyotrophic lateral sclerosisQ33342840
A thorough assessment of benign genetic variability in GRN and MAPT.Q33624840
British motor neuron disease twin studyQ33735812
Control of the autophagy maturation step by the MAPK ERK and p38: lessons from environmental carcinogensQ34000894
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 sclerosisQ35103318
Molecular and cellular pathways of neurodegeneration in motor neurone diseaseQ35489359
The MAP1 family of microtubule-associated proteinsQ35605963
Mnk2 and Mnk1 are essential for constitutive and inducible phosphorylation of eukaryotic initiation factor 4E but not for cell growth or developmentQ35663786
Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative diseaseQ36119653
Endoplasmic reticulum stress response and neurodegenerationQ36222456
Fragmentation of the Golgi apparatus in neurodegenerative diseases and cell deathQ36424379
The Atg1 kinase complex is involved in the regulation of protein recruitment to initiate sequestering vesicle formation for nonspecific autophagy in Saccharomyces cerevisiaeQ36438806
Autophagy and neurodegeneration: when the cleaning crew goes on strikeQ36760662
Molecular and cellular function of ALS2/alsin: implication of membrane dynamics in neuronal development and degeneration.Q36848744
Mitochondria: the hub of cellular Ca2+ signalingQ37133622
Molecular neuropathology of TDP-43 proteinopathiesQ37143159
Trafficking and function of the tetraspanin CD63.Q37302224
Amplified RNA synthesized from limited quantities of heterogeneous cDNA.Q37705357
The Rab5 Activator ALS2/alsin Acts as a Novel Rac1 Effector through Rac1-activated EndocytosisQ57372624
Neuronal inclusion protein TDP-43 has no primary genetic role in FTD and ALSQ57970487
Erratum: Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosisQ59048476
Identification of a novel exon 4 SOD1 mutation in a sporadic amyotrophic lateral sclerosis patientQ59544374
CHMP2B mutations are not a common cause of familial or sporadic amyotrophic lateral sclerosisQ61779662
Amyotrophic lateral sclerosis associated with homozygosity for an Asp90Ala mutation in CuZn-superoxide dismutaseQ71990868
Genetics of amyotrophic lateral sclerosisQ81637695
Large-scale SOD1 mutation screening provides evidence for genetic heterogeneity in amyotrophic lateral sclerosisQ84990896
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 cellsQ44113200
Changes in ribosomal binding activity of eIF3 correlate with increased translation rates during activation of T lymphocytesQ45281253
A rational mechanism for combination treatment of Huntington's disease using lithium and rapamycin.Q45306622
In search of an "autophagomometer".Q46027342
Autophagy defects contribute to neurodegeneration induced by dysfunctional ESCRT-III.Q46541184
Motor neuron disease in a patient with a mitochondrial tRNAIle mutationQ46854135
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.Q48183466
Copper/zinc superoxide dismutase 1 and sporadic amyotrophic lateral sclerosis: analysis of 155 cases and identification of a novel insertion mutation.Q48588721
P275copyright licenseCreative Commons Attribution 4.0 InternationalQ20007257
P6216copyright statuscopyrightedQ50423863
P4510describes a project that usesImageJQ1659584
P433issue3
P407language of work or nameEnglishQ1860
P921main subjectamyotrophic lateral sclerosisQ206901
P304page(s)e9872
P577publication date2010-03-24
P1433published inPLOS OneQ564954
P1476titleMutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS).
P478volume5

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