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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 (show PLEK ELISA Kits) 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 (show UXT ELISA Kits) and Als2/Uxt (show UXT ELISA Kits) interaction could be important for the activation of Nf-kappaB (show NFKB1 ELISA Kits) pathway.
Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene.
16 patients from 11 unrelated families were studied with a phenotype of infantile ascending hereditary spastic paralysis (IAHSP); Alsin mutations were found in 4 of the 10 families, whereas haplotype analysis excluded the ALS2 locus in one family
two ALS-linked factors, SQSTM1 (show SQSTM1 ELISA Kits) and ALS2, have distinct but additive protective roles against mutant SOD1 (show SOD1 ELISA Kits)-mediated toxicity by modulating neuronal proteostasis possibly through the autophagy-endolysosomal system.
alsin and spartin (show SPG20 ELISA Kits) may interact each other physically.
Alsin and SOD1 (show SOD1 ELISA Kits)(G93A) proteins regulate endosomal reactive oxygen species production by glial cells and proinflammatory pathways responsible for neurotoxicity.
Rab5 (show RAB5A ELISA Kits)-mediated endocytosis was severely altered in ALS2(-/-) neurons.
ALS2/Alsin exacerbates motor dysfunction in a SOD1 (show SOD1 ELISA Kits)-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 (show RAB5A ELISA Kits) and Rac1 guanine nucleotide exchange factor (show ARHGEF12 ELISA Kits)
Rac1, PI3 kinase (show PIK3CA ELISA Kits), and Akt3 (show AKT3 ELISA Kits) have roles in an anti-apoptotic pathway triggered by ALS2 that antagonizes SOD1 (show SOD1 ELISA Kits) 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