rs201106962
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Because copper homeostasis is deregulated in PD, it is of great significance to study the metal-binding site of wild-type α-syn (48-53, VVHGVA) and its pathological mutants (H50Q and G51D).
|
30777422 |
2019 |
rs201106962
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Insufficient evidence for pathogenicity of SNCA His50Gln (H50Q) in Parkinson's disease.
|
29398121 |
2018 |
rs201106962
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Using seed growth by monomer association (SeGMA) assays to measure fibril growth over 3 h in the presence of C2-α-syn monomer, we observed that some familial PD-associated α-syn mutations (<i>i.e.</i> H50Q and A53T) greatly increased growth rates, whereas others (E46K, A30P, and G51D) decreased growth rates.
|
28373279 |
2017 |
rs201106962
|
|
|
0.090 |
GeneticVariation |
BEFREE |
The neuropathological features of these cases consistently share characteristics of PD and MSA and are distinct from PD patients carrying the H50Q or SNCA duplication.
|
26306801 |
2015 |
rs201106962
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Besides the PD-related H50Q, we analyze a PD-unrelated control mutation, in which H50 is replaced by an arginine residue (H50R).
|
25886189 |
2015 |
rs201106962
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Recently, a new missense mutation (H50Q) in α-Syn was described in patients with a familial form of PD and dementia.
|
24936070 |
2014 |
rs201106962
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Here, we describe a novel missense mutation in exon 4 of SNCA encoding a H50Q substitution in a patient with dopa-responsive Parkinson's disease with a family history of parkinsonism and dementia.
|
23457019 |
2013 |
rs201106962
|
|
|
0.090 |
GeneticVariation |
BEFREE |
We recently reported a novel SNCA mutation (c.150T>G, p.H50Q) in PD brain-derived DNA.
|
23674490 |
2013 |
rs201106962
|
|
|
0.090 |
GeneticVariation |
BEFREE |
Understanding the aggregation mechanism of this H50Q mutant may help to establish the aggregation and phenotypic relationship of this novel mutant in PD.
|
24047453 |
2013 |