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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 19 Dec 2016.

Amyotrophic lateral sclerosis 2

ALS2, Alsin
The protein encoded by this gene contains an ATS1/RCC1-like domain, a RhoGEF domain, and a vacuolar protein sorting 9 (VPS9) domain, all of which are guanine-nucleotide exchange factors that activate members of the Ras superfamily of GTPases. The protein functions as a guanine nucleotide exchange factor for the small GTPase RAB5. The protein localizes with RAB5 on early endosomal compartments, and functions as a modulator for endosomal dynamics. Mutations in this gene result in several forms of juvenile lateral sclerosis and infantile-onset ascending spastic paralysis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2008] (from NCBI)
Top mentioned proteins: Als, Rab5, SOD, CAN, GEF
Papers on ALS2
Identification of two novel ALS2 mutations in infantile-onset ascending hereditary spastic paraplegia.
Borck et al., Lahore, Pakistan. In Amyotroph Lateral Scler Frontotemporal Degener, Feb 2016
UNASSIGNED: Biallelic mutations of ALS2 cause a clinical spectrum of overlapping autosomal recessive neurodegenerative disorders: infantile-onset ascending hereditary spastic paralysis (IAHSP), juvenile primary lateral sclerosis (JPLS), and juvenile amyotrophic lateral sclerosis (ALS2).
Absence of alsin function leads to corticospinal motor neuron vulnerability via novel disease mechanisms.
Özdinler et al., Chicago, United States. In Hum Mol Genet, Feb 2016
UNASSIGNED: Mutations in the ALS2 gene result in early-onset amyotrophic lateral sclerosis, infantile onset ascending hereditary spastic paraplegia and juvenile primary lateral sclerosis, suggesting prominent upper motor neuron involvement.
Genetic basis, evolutionary origin and spread of resistance to herbicides inhibiting acetolactate synthase in common groundsel (Senecio vulgaris).
Michel et al., Dijon, France. In Pest Manag Sci, Jan 2016
Sequencing and genotyping showed that ALS-based resistance evolved by multiple, independent appearances of mutant ALS1 and ALS2 alleles followed by spread.
Identification of mutations in Korean patients with amyotrophic lateral sclerosis using multigene panel testing.
Kim et al., South Korea. In Neurobiol Aging, Jan 2016
Using this technique, we tried to identify mutations in 4 index patients with familial ALS and 148 sporadic ALS in Korean population and identified 4 known mutations in SOD1, ALS2, MAPT, and SQSTM1 genes, respectively, and 28 variants of uncertain significance in 9 genes.
Targeted Mutagenesis, Precise Gene Editing, and Site-Specific Gene Insertion in Maize Using Cas9 and Guide RNA.
Cigan et al., Douai, France. In Plant Physiol, Oct 2015
DNA vectors expressing maize codon-optimized Streptococcus pyogenes Cas9 endonuclease and single guide RNAs were cointroduced with or without DNA repair templates into maize immature embryos by biolistic transformation targeting five different genomic regions: upstream of the liguleless1 (LIG1) gene, male fertility genes (Ms26 and Ms45), and acetolactate synthase (ALS) genes (ALS1 and ALS2).
Mutations in SOD1 and FUS caused juvenile-onset sporadic amyotrophic lateral sclerosis with aggressive progression.
Cui et al., Fuzhou, China. In Ann Transl Med, Sep 2015
Mutations in the alsin (ALS2), senataxin (SETX), and Spatacsin (SPG11) have been associated with familial ALS with juvenile onset and slowly progression.
Dystonia: an update on phenomenology, classification, pathogenesis and treatment.
Bhatia et al., Heidelberg, Germany. In Curr Opin Neurol, 2014
ALS2 gene mutations are a newly recognized cause for combined dystonia.
Genetic heterogeneity of amyotrophic lateral sclerosis: implications for clinical practice and research.
Simmons et al., United States. In Muscle Nerve, 2014
Mutations in a large number of genes, including SOD1, C9ORF72, TARDBP, FUS, VAPB, VCP, UBQLN2, ALS2, SETX, OPTN, ANG, and SPG11, are thought to cause ALS, whereas others, including ATAXN2, GRN, HFE, NEFH, UNC13A, and VEGF, appear to be disease-modifying genes.
Infantile-onset ascending hereditary spastic paralysis: a case report and brief literature review.
Santorelli et al., Sassari, Italy. In Eur J Paediatr Neurol, 2014
BACKGROUND: Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset autosomal recessive motor neuron disease associated with mutations in ALS2.
Recent progress in the genetics of motor neuron disease.
Burgunder et al., Vienna, Austria. In Eur J Med Genet, 2014
Juvenile fALS is most frequently caused by mutations in ALS2, SETX, spatacsin, or Sigmar1 and adult fALS by mutations in C9orf72, SOD1, TARDBP, and FUS.
Alsin and SOD1(G93A) proteins regulate endosomal reactive oxygen species production by glial cells and proinflammatory pathways responsible for neurotoxicity.
Engelhardt et al., Iowa City, United States. In J Biol Chem, 2011
Alsin and SOD1(G93A) proteins regulate endosomal reactive oxygen species production by glial cells and proinflammatory pathways responsible for neurotoxicity.
Alfa-class prefoldin protein UXT is a novel interacting partner of Amyotrophic Lateral Sclerosis 2 (Als2) protein.
Basak et al., İstanbul, Turkey. In Biochem Biophys Res Commun, 2011
these results suggest that Als2 is a binding partner of Uxt and Als2/Uxt interaction could be important for the activation of Nf-kappaB pathway.
[Gene mutations in familial amyotrophic lateral sclerosis].
Kaji et al., Hiroshima, Japan. In Brain Nerve, 2011
ALS2/alsin and ALS5 show an autosomal recessive inheritance pattern.
Genetic background and gender effects on gross phenotypes in congenic lines of ALS2/alsin-deficient mice.
Ikeda et al., Isehara, Japan. In Neurosci Res, 2010
Als2(-/-) mice showed a significantly lower spontaneous rearing activity than wild-type litters. These genetic background- and/or gender-specific findings suggest the presence of modifiers for life span and motor activities in Als2(-/-) mice.
Loss of ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking.
Ikeda et al., Isehara, Japan. In Plos One, 2009
ALS2/Alsin exacerbates motor dysfunction in a SOD1-expressing mouse ALS model by disturbing endolysosomal trafficking
Regulation of endosomal motility and degradation by amyotrophic lateral sclerosis 2/alsin.
Cai et al., Bethesda, United States. In Mol Brain, 2008
Rab5-mediated endocytosis was severely altered in ALS2(-/-) neurons.
A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2.
Ikeda et al., Japan. In Nat Genet, 2001
Amyotrophic lateral sclerosis 2 (ALS2) is an autosomal recessive form of juvenile ALS and has been mapped to human chromosome 2q33.
Genetic inroads in familial ALS.
Shaw, In Nat Genet, 2001
Two papers in this issue of Nature Genetics describe homozygous mutations in a new gene on chromosome 2q33 in 4 families of Arabian origin with a rare form of juvenile onset ALS (ALS2).
The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis.
Siddique et al., Chicago, United States. In Nat Genet, 2001
We have identified a familial juvenile PLS (JPLS) locus overlapping the previously identified ALS2 locus on chromosome 2q33.
Linkage of recessive familial amyotrophic lateral sclerosis to chromosome 2q33-q35.
Ben Hamida et al., Chicago, United States. In Nat Genet, 1994
However, familial forms of ALS have been described--autosomal dominant forms (ALS1, ALS3), clinically indistinguishable from the sporadic form, and autosomal recessive forms with early onset and slower progression of symptoms (ALS2).
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