Disease: Motor Neuron Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Altered oligomeric states in pathogenic ALS2 variants associated with juvenile motor neuron diseases cause loss of ALS2-mediated endosomal function. 30224357 2018
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare, early-onset autosomal recessive motor neuron disease associated with mutations in ALS2. 24144828 2014
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Recessive mutations in the alsin gene cause three clinically distinct motor neuron diseases: juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis (JPLS) and infantile-onset ascending hereditary spastic paraplegia (IAHSP). 24315819 2014
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 Biomarker disease BEFREE Recently, it has been shown that ALS2 plays a role in neuroprotection against MND-associated pathological insults, such as toxicity induced by mutant Cu/Zn superoxide dismutase (SOD1). 20339559 2010
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE To our knowledge, these data provide the first example of non-cell-autonomous glial effects in a recessive form of motor neuron disease and a potential rationale for the higher vulnerability of upper versus lower motor neurons in ALS2/Alsin-linked disorders. 19304783 2009
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Defects in the human ALS2 gene, which encodes the 1,657-amino-acid residue protein alsin, are linked to several related motor neuron diseases. 19023603 2009
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 Biomarker disease BEFREE ALS2/alsin knockout mice and motor neuron diseases. 18714162 2008
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE To test whether ALS2 plays a protective role against mutant SOD1-mediated motor neuron degeneration in vivo, we examined the progression of motor neuron disease in SOD1(G93A) mice on an ALS2 null background. 16973244 2007
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 Biomarker disease BEFREE In this review, we summarize recent clinical and molecular reports regarding alsin and attempt to place these results within the larger context of motor neuron disease. 17955197 2007
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Thus, a loss of functions in the ALS2-coded protein accounts for motor dysfunction and/or degeneration in the ALS2-linked MNDs. 17566607 2007
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Recessive mutations in ALS2 (juvenile amyotrophic lateral sclerosis) are causative for early-onset upper motor neuron diseases, including infantile ascending hereditary spastic paralysis (IAHSP). 16718699 2006
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Homozygous mutation in the ALS2 gene and the resulting loss of the guanine exchange factor activity of the ALS2 protein is causative for autosomal recessive early-onset motor neuron disease that is thought to predominantly affect upper motor neurons. 16802286 2006
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Mutation of the ALS2 gene encoding alsin is linked to the onset of autosomal recessive motor neuron diseases, including juvenile-onset amyotrophic lateral sclerosis (ALS). 14970233 2004
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Thus, mutations in the ALS2 gene linked to early-onset motor neuron disease uniformly produce loss of activity through decreased protein stability of this endosomal GEF. 14668431 2003
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease BEFREE Eight mutations in the ALS2 gene have been described as causing autosomal-recessive juvenile-onset forms of the motor neuron diseases amyotrophic lateral sclerosis, primary lateral sclerosis and hereditary spastic paraplegia. 12919135 2003
CUI: C0085084
Disease: Motor Neuron Disease
Motor Neuron Disease 		0.100 GeneticVariation disease LHGDN Thus, mutations in the ALS2 gene linked to early-onset motor neuron disease uniformly produce loss of activity through decreased protein stability of this endosomal GEF. 14668431 2003