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rs421016
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0.100 |
GeneticVariation |
BEFREE |
1.Available evidence confirms that the LRRK2 variant rs34637584 is associated with less cognitive impairment in people with PD.2.GBA variants rs76763715 and rs421016 are associated with more severe cognitive impairment in people with PD.3.The GBA variants rs76763715, rs421016, rs387906315 and rs80356773 have been significantly associated with the onset of depressive symptoms in PD.
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31292011 |
2020 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
Next, targeted sequencing panel covering 51 genes causative for PD was applied for the proband; it revealed a heterozygous missense substitution R964C in POLG and a heterozygous missense substitution L444P in GBA.
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30941926 |
2019 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
Our results suggest an association between the GBA c.1226A>G; p.N370S and c.1448T>C; p.L444P mutations and the development of PD in the population of patients from the Northern Brazil.
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30810589 |
2019 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
Generation of an integration-free iPSC line, ICCSICi005-A, derived from a Parkinson's disease patient carrying the L444P mutation in the GBA1 gene.
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31539859 |
2019 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
The frequency of GBA mutations (L444P, N370S) in PD patients was higher compared to controls (odds ratio [OR] = 6.9, 95% confidence interval [CI], 0.9-53.13, p = 0.031), particularly in patients with early-onset compared to late-onset PD (OR = 3.90 [95% CI, 1.2-13.2], p = 0.009).
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30146349 |
2018 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
Moreover, α-syn tetramers and related multimers are decreased in N370S <i>GBA1</i> Parkinson's disease (PD) induced pluripotent stem cell (iPSC)-derived human dopaminergic (hDA) neurons and murine neurons carrying the heterozygous L444P <i>GBA1</i> mutation.
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29311330 |
2018 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
Since both genetic and environmental factors contribute to the pathogenesis of sporadic PD, we investigated the susceptibility of nigrostriatal dopamine (DA) neurons in L444P GBA heterozygous knock-in (GBA <sup>+/L444P</sup> ) mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyridine (MPTP), a selective dopaminergic mitochondrial neurotoxin.
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29310663 |
2018 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
Pathogenic mutations in the glucocerebrosidase (GBA) gene are associated with Parkinson's disease (PD), of which L444P and N370S are the most frequently observed in patients with PD.
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29530815 |
2018 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
In this context, based on literature reports, we identified the most common mutations K198T, E326K, T369M, N370S, V394L, D409H, L444P, and R496H, in the Glucosylceramidase (GBA) protein that are known to cause GD1, and represent a risk of developing PD.
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29978341 |
2018 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
Eleven GBA-PD patients (p.N370S, p.L444P) and eleven matched iPD patients were included.
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28819579 |
2017 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
Using newly generated GD/PD mouse lines of either sex [<i>Gba</i> mutant (N370S, L444P, KO) crossed to α-synuclein transgenics], we show that <i>Gba</i> mutations predispose to PD through a loss-of-function mechanism.
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28847804 |
2017 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
The POLG1 CAG repeat length variation and the GBA p.L444P variant are associated with PD in the Finnish population.
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29029963 |
2017 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
Moreover, both L444P and N370S were associated with increased PD risk.
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26868973 |
2016 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
The most common mutations of N370S and L444P accounted for 36.0% (9/25) of all the GBA mutations in this Eastern Canadian PD cohort.
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26000814 |
2016 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
Besides non PD-specific and PD-specific clinical correlates, we showed that GBA L444P and SNCA Rep-1 were also associated with dPD.
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27745782 |
2016 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
Through the linear regression analysis, we identified the significant associations of the GBA L444P mutation and DYRK1A rs8126696 T allele with the earlier AAO in PD patients, and the A allele at MS4A6A rs610932 with the delayed AAO of PD.
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27085534 |
2016 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
The objectives of this study were to identify PD subtypes using cluster analysis (CA) and to determine the association between the subtypes and the polymorphisms in LRRK2 (G2385R and R1628P) and GBA (L444P) genes.
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25732803 |
2015 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
The most common L444P mutation accounts 2.74%, which confer more genetic risk for PD in this Chinese population.
|
25518742 |
2015 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
In summary, we confirmed that Rep1, rs356165, and rs11931074 in SNCA gene, G2385R in LRRK2 gene, rs4698412 in BST1 gene, rs1564282 in PARK17, and L444P in GBA gene have an independent and combined significant association with PD.
|
25623333 |
2015 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
In this study, we have investigated motor and non-motor aspects in 1638 Chinese PD patients who carried LRRK2 G2385R or R1628P (LRRK2-PD, n = 223), GBA L444P variant (GBA-PD, n = 49), or none of the variants (idiopathic PD [IPD], n = 1366).
|
24095219 |
2014 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
Our observations demonstrated that the GBA L444P mutation confers genetic risk for PD, especially LOPD, among the population in the central China area.
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23227814 |
2012 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
The present study ascertains that L444P mutation in GBA gene may contribute to an earlier onset of development of PD in Han/Chinese population.
|
21338444 |
2011 |
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rs421016
|
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0.100 |
GeneticVariation |
BEFREE |
The GBA L444P mutation was associated with a higher mean Unified Parkinson Disease Rating Scale III score after adjustment for covariates.
|
20837857 |
2010 |
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rs421016
|
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0.100 |
GeneticVariation |
BEFREE |
The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population.
|
20131388 |
2010 |
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rs421016
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0.100 |
GeneticVariation |
BEFREE |
In addition, we also explored the potential relationship between GBA L444P mutation and LRRK2 G2385R and R1628P variants in patients with PD.But no association was found, either.
|
20004703 |
2010 |