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Human Polyclonal ALS2 Primary Antibody für ICC, IF - ABIN257842
Çobanoğlu, Ozansoy, Başak: Are alsin and spartin novel interaction partners? in Biochemical and biophysical research communications 2012
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We established a genetic diagnosis in six families with autosomal recessive HSP (SPG11 (zeige SPG11 Antikörper) in three families and TFG/SPG57, SACS and ALS2 in one family each). A heterozygous mutation in a gene involved in an autosomal dominant HSP (ATL1/SPG3A (zeige ATL1 Antikörper)) was also identified in one additional family
This study identified two novel ALS2 mutations in two Pakistani families with infantile-onset ascending hereditary spastic paraplegia cosegregating with the disease.
novel compound heterozygous ALS2 deletion mutations were identified in two siblings with infantile ascending hereditary spastic paraplegia.
We identified a novel homozygous splice-site mutation (c.3512+1G>A) in the ALS2 gene (NM_020919.3) encoding alsin that segregated with the disease in this family
Data indicate a splice-site mutation of the amyotrophic lateral sclerosis 2 (juvenile) protein (ALS2) in four children of a consanguineous family with infantile-onset ascending hereditary spastic paraplegia.
The ALS2 gene should be screened for mutations in patients who present with generalized dystonia and cerebellar signs.
The ALS2 mutation c.2761C>T leading to infantile-onset hereditary spastic paraplegia resides in the pleckstrin (zeige PLEK Antikörper) domain, which is involved in the overall neuronal development or maintenance.
ALS2 sequencing revealed two heterozygous mutations: the missense variant c.299 G>T, leading to the replacement of a serine with an isoleucine (p.S100I), and the splicing variant c.2580-2 A>G in brothers with juvenile amyotrophic lateral sclerosis.
these results suggest that Als2 is a binding partner of Uxt (zeige UXT Antikörper) and Als2/Uxt (zeige UXT Antikörper) interaction could be important for the activation of Nf-kappaB (zeige NFKB1 Antikörper) pathway.
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.
two ALS-linked factors, SQSTM1 (zeige SQSTM1 Antikörper) and ALS2, have distinct but additive protective roles against mutant SOD1 (zeige SOD1 Antikörper)-mediated toxicity by modulating neuronal proteostasis possibly through the autophagy-endolysosomal system.
alsin and spartin (zeige SPG20 Antikörper) may interact each other physically.
Alsin and SOD1 (zeige SOD1 Antikörper)(G93A) proteins regulate endosomal reactive oxygen species production by glial cells and proinflammatory pathways responsible for neurotoxicity.
Rab5 (zeige RAB5A Antikörper)-mediated endocytosis was severely altered in ALS2(-/-) neurons.
ALS2/Alsin exacerbates motor dysfunction in a SOD1 (zeige SOD1 Antikörper)-expressing mouse ALS model by disturbing endolysosomal trafficking
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.
Alsin is a Rab5 (zeige RAB5A Antikörper) and Rac1 guanine nucleotide exchange factor (zeige ARHGEF12 Antikörper)
Rac1, PI3 kinase (zeige PIK3CA Antikörper), and Akt3 (zeige AKT3 Antikörper) have roles in an anti-apoptotic pathway triggered by ALS2 that antagonizes SOD1 (zeige SOD1 Antikörper) mutant-induced motoneuronal cell death
loss of ALS2 function is not sufficient to cause motor neuron disease in a mouse model. However, lack of ALS2 did predispose neurons to oxidative stress, implying that ALS2 might serve as a risk factor for motor neuron disease.
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.
, amyotrophic lateral sclerosis 2 (juvenile)
, amyotrophic lateral sclerosis 2 chromosomal region candidate gene 6 protein
, amyotrophic lateral sclerosis 2 protein
, amyotrophic lateral sclerosis 2 protein homolog
, amyotrophic lateral sclerosis protein 2 homolog
, amyotrophic lateral sclerosis 2 (juvenile) homolog