Parkinson Disease
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0.100 |
GeneticVariation
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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 |
Parkinson Disease
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0.100 |
GeneticVariation
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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 |
Parkinson Disease
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0.100 |
GeneticVariation
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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 |
Parkinson Disease
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0.100 |
GeneticVariation
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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 |
Parkinson Disease
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0.100 |
GeneticVariation
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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 |
Parkinson Disease
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0.100 |
GeneticVariation
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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 |
Parkinson Disease
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0.100 |
GeneticVariation
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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 |
Parkinson Disease
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0.100 |
GeneticVariation
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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 |
Parkinson Disease
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0.100 |
GeneticVariation
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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 |
Parkinson Disease
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0.100 |
GeneticVariation
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BEFREE |
Eleven GBA-PD patients (p.N370S, p.L444P) and eleven matched iPD patients were included.
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28819579 |
2017 |
Parkinson Disease
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0.100 |
GeneticVariation
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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 |
Parkinson Disease
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0.100 |
GeneticVariation
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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 |
Parkinson Disease
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0.100 |
GeneticVariation
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BEFREE |
Moreover, both L444P and N370S were associated with increased PD risk.
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26868973 |
2016 |
Parkinson Disease
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0.100 |
GeneticVariation
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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 |
Parkinson Disease
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0.100 |
GeneticVariation
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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 |
Parkinson Disease
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0.100 |
GeneticVariation
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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 |
Parkinson Disease
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0.100 |
GeneticVariation
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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 |
Parkinson Disease
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0.100 |
GeneticVariation
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BEFREE |
The most common L444P mutation accounts 2.74%, which confer more genetic risk for PD in this Chinese population.
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25518742 |
2015 |
Parkinson Disease
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0.100 |
GeneticVariation
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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.
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25623333 |
2015 |
Parkinson Disease
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0.100 |
GeneticVariation
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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).
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24095219 |
2014 |
Parkinson Disease
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0.100 |
GeneticVariation
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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 |
Parkinson Disease
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0.100 |
GeneticVariation
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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.
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21338444 |
2011 |
Parkinson Disease
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0.100 |
GeneticVariation
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BEFREE |
The GBA L444P mutation was associated with a higher mean Unified Parkinson Disease Rating Scale III score after adjustment for covariates.
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20837857 |
2010 |
Parkinson Disease
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0.100 |
GeneticVariation
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BEFREE |
The results suggest that the GBA gene L444P mutation appears to be a risk factor for PD in Chinese population.
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20131388 |
2010 |
Parkinson Disease
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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.
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20004703 |
2010 |