Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
The impression, that environmental risk factors for ALS were not providing consistent direction, meant there was no sturdy epidemiologically-based "handle" to grasp when trying to envisage a biological mechanism for triggering sporadic ALS (2).
|
31702469 |
2019 |
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, activation of Rab5 on mitochondria depends on the Rab5-GEF ALS2/Alsin, encoded by a gene mutated in amyotrophic lateral sclerosis (ALS).
|
29469808 |
2018 |
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
The present study investigates the temperature dependence of electrotonic potentials in mathematically-simulated myelinated axons with one of three increasingly-severe type of amyotrophic lateral sclerosis (ALS) pathology, termed as ALS1, ALS2 and ALS3, respectively, in the physiological range (30-37∘C).
|
28891518 |
2017 |
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Functional links between SQSTM1 and ALS2 in the pathogenesis of ALS: cumulative impact on the protection against mutant SOD1-mediated motor dysfunction in mice.
|
27439389 |
2016 |
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
C9orf72 repeat expansion was found in 2 patients with sporadic ALS (2/552 = 0.4%) and no patients with familial ALS (0/11 = 0%).
|
22727276 |
2012 |
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In the present study, we sought to understand whether alsin, which is mutated in an inherited juvenile form of ALS, functionally converges on Rac1-dependent pathways acted upon by SOD1(G93A) to regulate Nox-dependent ROS production.
|
21937428 |
2011 |
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Recently, the generation of new animal models of ALS has been made possible with the discovery of ALS-linked mutations in other genes encoding for alsin, dynactin, senataxin, VAPB, TDP-43 and FUS.
|
20728492 |
2011 |
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Direct sequencing analyses were performed in 19 genes, including ALS/frontotemporal lobar degeneration (FTLD)-related genes (SOD2, SOD3, ALS2/alsin, SMN1, PGRN, ANG, VEGF, VCP, VAPB, DCTN1, CHMP2B, and TARDBP or TDP-43), tauopathy-related gene (GSK3beta), and parkinsonism-related genes (alpha-synuclein, LRRK2, parkin, DJ-1, PINK1, and ATP13A2).
|
18759352 |
2008 |
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
ALS animal models in this review include strains of rodents that are transgenic for superoxide dismutase 1 (SOD1), ALS2 knockout mice, and mice that are transgenic for cytoskeletal abnormalities.
|
18026741 |
2008 |
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Autosomal recessive mutations in the ALS2 gene have been linked to juvenile-onset amyotrophic lateral sclerosis (ALS2), primary lateral sclerosis and juvenile-onset ascending hereditary spastic paraplegia.
|
18714162 |
2008 |
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We have started addressing this issue in a cell model of neurodegeneration, i.e. human SKNBE neuroblastoma cells transfected with a mutant form of alsin, a protein causing an early-onset type of amyotrophic lateral sclerosis, ALS2.
|
18422522 |
2008 |
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We recently demonstrated that activation of Akt3 by the autosomal-recessive familial amyotrophic lateral sclerosis (ALS)-linked gene 2 (ALS2) product, alsinLF, led to the suppression of motoneuronal death induced by familial ALS-related mutant superoxide dismutase-1 (SOD1).
|
18160256 |
2008 |
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
LHGDN |
Alsin and the molecular pathways of amyotrophic lateral sclerosis.
|
17955197 |
2007 |
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Alsin and the molecular pathways of amyotrophic lateral sclerosis.
|
17955197 |
2007 |
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
ALS2 is a causative gene for a juvenile autosomal recessive form of motor neuron diseases (MNDs), including amyotrophic lateral sclerosis 2 (ALS2), juvenile primary lateral sclerosis, and infantile-onset ascending hereditary spastic paralysis.
|
17566607 |
2007 |
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
One form of juvenile onset autosomal recessive ALS (ALS2) has been linked to the loss of function of the ALS2 gene.
|
17093100 |
2006 |
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
The combined evidence from mice and humans shows that deficiency in ALS2 causes an upper motor neuron disease that in humans closely resembles a severe form of hereditary spastic paralysis, and that is quite distinct from amyotrophic lateral sclerosis.
|
16802286 |
2006 |
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The causative gene for JPLS was found to be ALS2, which is also responsible for a recessive form of amyotrophic lateral sclerosis, for infantile onset ascending hereditary spastic paralysis (IAHSP) and for a form of complicated hereditary spastic paraplegia (cHSP).
|
16670179 |
2006 |
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
BEFREE |
Alsin, the product of the recently cloned ALS-causative gene, the ALS2 gene, is linked to a Rac1/phosphatidylinositol-3 kinase/Akt3 pathway that specifically suppresses motoneuronal death induced by FSOD1.
|
16909018 |
2005 |
Amyotrophic Lateral Sclerosis
|
0.200 |
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 |
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
LHGDN |
ALS2CL, the novel protein highly homologous to the carboxy-terminal half of ALS2, binds to Rab5 and modulates endosome dynamics.
|
15388334 |
2004 |
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations of ALS2 are not a common cause of ALS.
|
14676054 |
2003 |
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To examine whether ALS2 is mutated in Japanese ALS patients sharing some characteristics of ALS2, we analyzed ALS2 gene from three patients with AR-ALS.
|
12866199 |
2003 |
Amyotrophic Lateral Sclerosis
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The genetic background of ALS is summarized and special attention is given to the newly identified ALS gene ALS2, and to those that are currently being investigated.
|
12507415 |
2003 |
Amyotrophic Lateral Sclerosis
|
0.200 |
Biomarker
|
disease |
LHGDN |
[Causative genes for familial amyotrophic lateral sclerosis].
|
12138710 |
2002 |