rs121917865
|
NUP62;IL4I1
|
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
|
16786527 |
2006 |
rs121917865
|
NUP62;IL4I1
|
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1299491
|
NUP62;IL4I1
|
Meningococcal Infections
|
|
0.700 |
GeneticVariation |
GWASDB |
Genome-wide association study identifies variants in the CFH region associated with host susceptibility to meningococcal disease.
|
20694013 |
2010 |
rs756915170
|
NUP62;IL4I1
|
nervous system disorder
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we investigated the potential of α-synuclein fibrils to induce neurological disease in TgM83<sup>+/-</sup> mice expressing the A53T mutant of human α-synuclein after oral or intravenous challenge and compared it to intraperitoneal and intracerebral challenge.
|
31230104 |
2019 |
rs745557509
|
NUP62;IL4I1
|
Alzheimer's Disease
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, using APP/PS1 transgenic mice as AD model, we investigated the mechanism by which S14G-humanin (HNG) improved autophagy and insulin signaling in AD brain.
|
29058763 |
2018 |
rs756915170
|
NUP62;IL4I1
|
Brain Diseases
|
|
0.010 |
GeneticVariation |
BEFREE |
Astrocytes have a neuroprotective role in several detrimental brain conditions; we therefore analyzed the effects of the overexpression of wild-type α-synuclein and its A30P and A53T mutants on autophagy and apoptosis.
|
28573674 |
2018 |
rs372446928
|
NUP62;IL4I1
|
Mevalonic Aciduria
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on this hypothesis and considering that neurologic impairment characterizes Mevalonic Aciduria (MA), the most severe form of MKD, we studied the effects of I268T and N301T MVK mutations on protein prenylation, autophagy and programmed cell death in SH-SY5Y neuroblastoma cell lines.
|
28359055 |
2017 |
rs372446928
|
NUP62;IL4I1
|
Deficiency of mevalonate kinase
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on this hypothesis and considering that neurologic impairment characterizes Mevalonic Aciduria (MA), the most severe form of MKD, we studied the effects of I268T and N301T MVK mutations on protein prenylation, autophagy and programmed cell death in SH-SY5Y neuroblastoma cell lines.
|
28359055 |
2017 |
rs753716740
|
NUP62;IL4I1
|
Mevalonic Aciduria
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on this hypothesis and considering that neurologic impairment characterizes Mevalonic Aciduria (MA), the most severe form of MKD, we studied the effects of I268T and N301T MVK mutations on protein prenylation, autophagy and programmed cell death in SH-SY5Y neuroblastoma cell lines.
|
28359055 |
2017 |
rs753716740
|
NUP62;IL4I1
|
Deficiency of mevalonate kinase
|
|
0.010 |
GeneticVariation |
BEFREE |
Based on this hypothesis and considering that neurologic impairment characterizes Mevalonic Aciduria (MA), the most severe form of MKD, we studied the effects of I268T and N301T MVK mutations on protein prenylation, autophagy and programmed cell death in SH-SY5Y neuroblastoma cell lines.
|
28359055 |
2017 |