Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking (Q27332255)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20339559%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

title

Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20339559%20AND%20SRC:MED&resulttype=core&format=json

amyotrophic lateral sclerosis

29 January 2020

main subject

1 reference

2

1 reference

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29 January 2020

Masato Koike

6

1 reference

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29 January 2020

author name string

Shinji Hadano

1

1 reference

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29 January 2020

Ryota Kunita

3

1 reference

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29 January 2020

Kyoko Suzuki-Utsunomiya

4

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29 January 2020

Akira Akatsuka

5

1 reference

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29 January 2020

Masashi Aoki

7

1 reference

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29 January 2020

Yasuo Uchiyama

8

1 reference

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29 January 2020

Yasuto Itoyama

9

1 reference

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29 January 2020

Joh-E Ikeda

10

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29 January 2020

language of work or name

English

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publication date

22 March 2010

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29 January 2020

1 reference

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29 January 2020

volume

5

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29 January 2020

page(s)

e9805

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29 January 2020

issue

3

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Creative Commons Attribution 4.0 International

29 January 2020

copyright license

start time

22 March 2010

1 reference

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/PMC2842444/fullTextXML

inferred from PubMed Central ID database lookup

cites work

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

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

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

21 March 2017

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

21 March 2017

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Amyotrophic lateral sclerosis 2-deficiency leads to neuronal degeneration in amyotrophic lateral sclerosis through altered AMPA receptor trafficking

21 March 2017

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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 March 2017

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

21 March 2017

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Alsin/Rac1 signaling controls survival and growth of spinal motoneurons

21 March 2017

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ALS: a disease of motor neurons and their nonneuronal neighbors

21 March 2017

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HDAC6 controls autophagosome maturation essential for ubiquitin-selective quality-control autophagy

7 April 2017

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The microtubule-associated histone deacetylase 6 (HDAC6) regulates epidermal growth factor receptor (EGFR) endocytic trafficking and degradation

9 May 2017

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SPATACSIN mutations cause autosomal recessive juvenile amyotrophic lateral sclerosis

28 September 2017

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Genetics of motor neuron disorders: new insights into pathogenic mechanisms

28 September 2017

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Regulation of endosomal motility and degradation by amyotrophic lateral sclerosis 2/alsin

28 September 2017

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Early endosomes and endosomal coatomer are required for autophagy

28 September 2017

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Astrocytic protection of spinal motor neurons but not cortical neurons against loss of Als2/alsin function.

28 September 2017

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Autophagy inhibition compromises degradation of ubiquitin-proteasome pathway substrates.

28 September 2017

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28 September 2017

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Functional alterations of the ubiquitin-proteasome system in motor neurons of a mouse model of familial amyotrophic lateral sclerosis

28 September 2017

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Mutant dynein (Loa) triggers proprioceptive axon loss that extends survival only in the SOD1 ALS model with highest motor neuron death

28 September 2017

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28 September 2017

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28 September 2017

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

28 September 2017

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Assessing the role of immuno-proteasomes in a mouse model of familial ALS

28 September 2017

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28 September 2017

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Deficiency in the ALS2 gene does not affect the motor neuron degeneration in SOD1(G93A) transgenic mice

28 September 2017

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28 September 2017

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28 September 2017

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Participation of autophagy in storage of lysosomes in neurons from mouse models of neuronal ceroid-lipofuscinoses (Batten disease).

28 September 2017

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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

28 September 2017

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Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy

28 September 2017

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Aggregation and Motor Neuron Toxicity of an ALS-Linked SOD1 Mutant Independent from Wild-Type SOD1

28 September 2017

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Sequestosome 1/p62 links familial ALS mutant SOD1 to LC3 via an ubiquitin-independent mechanism.

28 September 2017

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Interaction of amyotrophic lateral sclerosis (ALS)-related mutant copper-zinc superoxide dismutase with the dynein-dynactin complex contributes to inclusion formation

2 June 2018

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Rab5 and Rab7 control endocytic sorting along the axonal retrograde transport pathway

2 June 2018

1 reference

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Isolation and characterization of rat liver amphisomes. Evidence for fusion of autophagosomes with both early and late endosomes.

2 June 2018

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Neuropathological changes in two lines of mice carrying a transgene for mutant human Cu,Zn SOD, and in mice overexpressing wild type human SOD: a model of familial amyotrophic lateral sclerosis (FALS).

2 June 2018

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

2 June 2018

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In search of an "autophagomometer".

2 June 2018

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A role for motoneuron subtype-selective ER stress in disease manifestations of FALS mice

27 November 2018

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Maternal uniparental heterodisomy with partial isodisomy of a chromosome 2 carrying a splice acceptor site mutation (IVS9-2A>T) in ALS2 causes infantile-onset ascending spastic paralysis (IAHSP).

27 November 2018

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A dopamine receptor antagonist L-745,870 suppresses microglia activation in spinal cord and mitigates the progression in ALS model mice.

27 November 2018

1 reference

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First case of compound heterozygosity in ALS2 gene in infantile-onset ascending spastic paralysis with bulbar involvement

27 November 2018

1 reference

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Distal axonopathy in an alsin-deficient mouse model

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842444

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

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842444

Degradation of Amyotrophic Lateral Sclerosis-linked Mutant Cu,Zn-Superoxide Dismutase Proteins by Macroautophagy and the Proteasome

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2842444

Mild ALS in Japan associated with novel SOD mutation

27 November 2018

1 reference

12 December 2020

Infantile onset of hereditary ascending spastic paralysis with bulbar involvement

1 reference

12 December 2020

Effect of transgene copy number on survival in the G93A SOD1 transgenic mouse model of ALS

1 reference

12 December 2020

Motor neuron disease in transgenic mice with an H46R mutant SOD1 gene

1 reference

12 December 2020

ALS2/alsin deficiency in neurons leads to mild defects in macropinocytosis and axonal growth

1 reference

12 December 2020

Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe

1 reference

12 December 2020

A novel ALS2 splice-site mutation in a Cypriot juvenile-onset primary lateral sclerosis family

1 reference

12 December 2020

Novel compound heterozygous ALS2 mutations cause juvenile amyotrophic lateral sclerosis in Japan

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0009805

Identifiers

DOI

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20339559%20AND%20SRC:MED&resulttype=core&format=json

29 January 2020

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29 January 2020

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