Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2/alsin exhibit age-dependent neurological deficits and altered endosome trafficking (Q28505562)

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

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scholarly article

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24 January 2017

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

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24 January 2017

Alsin Rho guanine nucleotide exchange factor

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GOA release 2020-03-11

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Yoichiro Iwakura

object named as

Yoichiro Iwakura

11

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author name string

Shinji Hadano

1

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24 January 2017

Susanna C. Benn

2

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24 January 2017

Shigeru Kakuta

3

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24 January 2017

Asako Otomo

4

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24 January 2017

Katsuko Sudo

5

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24 January 2017

Ryota Kunita

6

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24 January 2017

Kyoko Suzuki-Utsunomiya

7

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24 January 2017

Hikaru Mizumura

8

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24 January 2017

Jeremy M. Shefner

9

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24 January 2017

Gregory A. Cox

10

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24 January 2017

Robert H. Brown

12

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24 January 2017

Joh-E. Ikeda

13

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24 January 2017

publication date

15 January 2006

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24 January 2017

Human Molecular Genetics

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24 January 2017

15

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24 January 2017

2

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24 January 2017

233–250

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24 January 2017

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

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://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Hereditary motor system diseases (chronic juvenile amyotrophic lateral sclerosis). Conditions combining a bilateral pyramidal syndrome with limb and bulbar amyotrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

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://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

AnALS2gene mutation causes hereditary spastic paraplegia in a Pakistani kindred

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

From Charcot to Lou Gehrig: deciphering selective motor neuron death in ALS

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Atypical motor neuron disease and related motor syndromes

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https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Progressive spastic paraparesis: hereditary spastic paraplegia and its relation to primary and amyotrophic lateral sclerosis

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https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Complex genetics of amyotrophic lateral sclerosis

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https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Isolation and characterization of the active cDNA of the human cell cycle gene (RCC1) involved in the regulation of onset of chromosome condensation

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https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Guanine nucleotide exchange factors for Rho GTPases: turning on the switch

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

A yeast protein related to a mammalian Ras-binding protein, Vps9p, is required for localization of vacuolar proteins

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

A novel Rab5 GDP/GTP exchange factor complexed to Rabaptin-5 links nucleotide exchange to effector recruitment and function

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https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Ras-activated endocytosis is mediated by the Rab5 guanine nucleotide exchange activity of RIN1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

A novel binding protein composed of homophilic tetramer exhibits unique properties for the small GTPase Rab5

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

RIN3: a novel Rab5 GEF interacting with amphiphysin II involved in the early endocytic pathway

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Caenorhabditis elegans RME-6 is a novel regulator of RAB-5 at the clathrin-coated pit

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Homo-oligomerization of ALS2 through its unique carboxyl-terminal regions is essential for the ALS2-associated Rab5 guanine nucleotide exchange activity and its regulatory function on endosome trafficking

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Alsin is a Rab5 and Rac1 guanine nucleotide exchange factor

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https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Alsin is partially associated with centrosome in human cells

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https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

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://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

ALS2/Alsin regulates Rac-PAK signaling and neurite outgrowth

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Cross-species characterization of the ALS2 gene and analysis of its pattern of expression in development and adulthood

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

ALS2CL, the novel protein highly homologous to the carboxy-terminal half of ALS2, binds to Rab5 and modulates endosome dynamics

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Rab proteins as membrane organizers

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

CRMP-2 regulates polarized Numb-mediated endocytosis for axon growth

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Loss of ALS2 function is insufficient to trigger motor neuron degeneration in knock-out mice but predisposes neurons to oxidative stress

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Motor unit number estimation in human neurological diseases and animal models

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Loss of synaptophysin-positive boutons on lumbar motor neurons innervating the medial gastrocnemius muscle of the SOD1G93A G1H transgenic mouse model of ALS.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

An electron microscopic examination of the corticospinal projection to the cervical spinal cord in the rat: lack of evidence for cortico-motoneuronal synapses

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

The extent of axonal loss in the long tracts in hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Mutant dynactin in motor neuron disease.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Mutations in dynein link motor neuron degeneration to defects in retrograde transport

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Abnormal neurofilament transport caused by targeted disruption of neuronal kinesin heavy chain KIF5A.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

A mutation in dynein rescues axonal transport defects and extends the life span of ALS mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Growth retardation and early death of beta-1,4-galactosyltransferase knockout mice with augmented proliferation and abnormal differentiation of epithelial cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

The toppler mouse: a novel mutant exhibiting loss of Purkinje cells

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Cerebellar Purkinje cell loss in aging Hu-Bcl-2 transgenic mice.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Reducing intersubject variability in motor unit number estimation

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDI440

21 January 2018

Identifiers

10.1093/HMG/DDI440

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

release_v32ihtl6qnhafmyspyk5oge6sq

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https://api.fatcat.wiki/v0/release/v32ihtl6qnhafmyspyk5oge6sq

24 November 2022

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mapped directly with Wikidata item

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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