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

By Yi Yang, A. Hentati, H. Deng, O. Dabbagh, Toru Sasaki, M. Hirano, W. Hung, K. Ouahchi, Jianhua Yan, A. Azim and 7 more. Nature Genetics, 2001

782 citations recorded by the source corpus.

Subfields: Genetics, Molecular Biology, Neurology

View Paper: https://www.semanticscholar.org/paper/ba2faffe272b2df965502a2323bf2e3da0cdc194

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In Genetics

1. D. Cleveland
2. Rudolph E. Tanzi
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4. Lars Bertram

In Molecular Biology

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2. Fiona M Menzies
3. D. Collen
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In Neurology

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Citations in the corpus

• DNA/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4). (2004, background): “ALS2 is a juvenile-onset, slowly progressive, autosomal recessive disorder that maps to chromosome 2q33 and is associated with mutations in the alsin gene, a putative GTPase regulator (Hadano et al. 2001; Yang et al. 2001).”
• Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities. (2017, positive): “Disruption of the ESCRT machinery through mutations in charged multivesicular body protein 2B (CHMP2B) have been associated with both ALS and Frontotemporal Dementia, a neurodegenerative disease thought to be on a spectrum with ALS.”
• The genetic epidemiology of neurodegenerative disease. (2005, background): “Recently, mutations in a second gene (ALS2; encoding alsin) were identified in independent families with a rare, juvenile-onset autosomal recessive form of ALS and primary lateral sclerosis, a syndrome restricted to upper motor neuron degeneration (79, 80).”
• A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis. (2004, background): “ALS2 (MIM 606352) is a juvenile autosomal recessive disorder with slow progression and is associated with mutations in the Alsin gene on chromosome 2 (Hadano et al. 2001; Yang et al. 2001).”
• VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death (2003, background): “Recently, the gene associated with ALS2, an autosomal recessive form of juvenile ALS, was reported to encode a protein containing domains with homology to Ran/Rho-GEF”
• Guanine nucleotide exchange factors for Rho GTPases: turning on the switch. (2002, background): “So far mutations in two genes, SOD1 (encoding for superoxide dismutase) and ALS2, have been identified in patients with the disease (Rosen 1993; Hadano et al. 2001; Yang et al. 2001).”
• The role of the Rho GTPases in neuronal development. (2005, background): “1993) The second gene, ALS2, encodes the protein alsin that contains three potential guanine nucleotide exchange (GEF) domains, including the tandem DH-PH domain module characteristic of a Rho GTPase exchange factor (Hadano et al. 2001; Yang et al. 2001).”
• Unraveling the mechanisms involved in motor neuron degeneration in ALS. (2004, background): “Using modern gene mapping methods, researchers have identified a new gene linked to a rare, recessively inherited juvenile or infantile onset form that progresses slowly (Hadano et al. 2001, Yang et al. 2001).”