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rs74315431
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0.100 |
GeneticVariation |
BEFREE |
A mutant, aggregation-prone, form of VAPB (P56S) is linked to a dominantly inherited form of amyotrophic lateral sclerosis; however, it has been unclear whether its pathogenicity is due to toxic gain of function, to negative dominance, or simply to insufficient levels of the wild-type protein produced from a single allele (haploinsufficiency).
|
30745341 |
2019 |
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rs74315431
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0.100 |
GeneticVariation |
BEFREE |
The VAPB P56S mutation, which is associated with amyotrophic lateral sclerosis, reduces the ULK1/FIP200 interaction and impairs autophagy at an early step, similar to the effect seen in VAPA/B-depleted cells.
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29628370 |
2018 |
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rs74315431
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|
0.100 |
GeneticVariation |
BEFREE |
ALS8 is a late-onset familial autosomal dominant form of Amyotrophic Lateral Sclerosis (ALS) caused by a point mutation (P56S) in the VAPB gene (VAMP associated protein isoform B).
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28912432 |
2017 |
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rs74315431
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0.100 |
GeneticVariation |
BEFREE |
Missense mutations (P56S) in Vapb are associated with autosomal dominant motor neuron diseases: amyotrophic lateral sclerosis and lower motor neuron disease.
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26362257 |
2015 |
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rs74315431
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0.100 |
GeneticVariation |
BEFREE |
Firstly, the mutation P56S in the VAPB is seen to increase the stability of the protein and secondly, the mutation P56S in VAPB is seen to interrupt the functioning of the gene and loses its ability to be involved in the activation of the IRE1/XBP1 pathway which leads to ALS.
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24681403 |
2014 |
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rs74315431
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0.100 |
GeneticVariation |
BEFREE |
Its mutant form, P56S-VAPB, which has been linked to a dominantly inherited form of Amyotrophic Lateral Sclerosis (ALS8), generates intracellular inclusions consisting in restructured ER domains whose role in ALS pathogenesis has not been elucidated.
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25409455 |
2014 |
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rs74315431
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0.100 |
GeneticVariation |
BEFREE |
The mutations P56S and T46I in the gene encoding vesicle-associated membrane protein-associated protein B/C (VAPB) cause ALS8, a familial form of amyotrophic lateral sclerosis (ALS).
|
23446633 |
2013 |
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rs74315431
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0.100 |
GeneticVariation |
BEFREE |
Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons.
|
23771029 |
2013 |
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rs74315431
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|
0.100 |
GeneticVariation |
BEFREE |
A proline-to-serine substitution at position-56 (P56S) of vesicle-associated membrane protein-associated protein B (VAPB) causes a form of dominantly inherited motor neuron disease (MND), including typical and atypical amyotrophic lateral sclerosis (ALS) and a mild late-onset spinal muscular atrophy (SMA).
|
23281774 |
2013 |
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rs74315431
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0.100 |
GeneticVariation |
BEFREE |
Human VAPA and the yeast VAP Scs2p with an altered proline distribution can phenocopy amyotrophic lateral sclerosis-associated VAPB(P56S).
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21144830 |
2011 |
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rs74315431
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0.100 |
GeneticVariation |
BEFREE |
Structural requirements for VAP-B oligomerization and their implication in amyotrophic lateral sclerosis-associated VAP-B(P56S) neurotoxicity.
|
20207736 |
2010 |
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rs74315431
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The P56S missense mutation of the VAPB protein is linked to a hereditary form of amyotrophic lateral sclerosis (ALS8), and the pathogenesis of ALS8 has remained enigmatic.
|
20227395 |
2010 |
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rs74315431
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0.100 |
GeneticVariation |
BEFREE |
Elimination of the native structure and solubility of the hVAPB MSP domain by the Pro56Ser mutation that causes amyotrophic lateral sclerosis.
|
20377183 |
2010 |
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rs74315431
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0.100 |
GeneticVariation |
BEFREE |
These results lead us to hypothesize that the total loss of VAPB function in unfolded protein response, induced by one P56S mutant allele, may contribute to the development of P56SVAPB- induced amyotrophic lateral sclerosis.
|
19183264 |
2009 |
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rs74315431
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0.100 |
GeneticVariation |
BEFREE |
The vesicle-associated membrane protein B (VAPB) gene has been genetically linked to ALS in several large Brazilian families in which the disorder is caused by a proline to serine mutation at codon 56 (P56S).
|
18322265 |
2008 |
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rs74315431
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|
0.100 |
GeneticVariation |
BEFREE |
A point mutation (P56S) in the MSP domain of human VAPB is associated with Amyotrophic lateral sclerosis (ALS), but the mechanisms underlying the pathogenesis are poorly understood.
|
18555774 |
2008 |
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rs74315431
|
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|
0.100 |
GeneticVariation |
BEFREE |
A genetic mutation (P56S) in the conserved major sperm protein homology domain of VAPB has been linked to motor-neuron degeneration in affected amyotrophic lateral sclerosis (ALS) patients.
|
17804640 |
2007 |
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rs74315431
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|
0.100 |
GeneticVariation |
BEFREE |
Characterization of amyotrophic lateral sclerosis-linked P56S mutation of vesicle-associated membrane protein-associated protein B (VAPB/ALS8).
|
16891305 |
2006 |