IndraLab

Statements

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"Mutations in the genes encoding Parkin, PINK1, and DJ-1, LRRK2 and UCH-L1 cause familial forms of PD, which arise through autosomal recessive inheritance."
26779479
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"Specifically, mutations in alpha-synuclein, parkin, UCHL1, DJ1, PINK1, and LRRK2 cause PD, with a Mendelian pattern of inheritance."
16717248
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"No pathological data are currently available.It is not clear why mutations in alpha-synuclein, parkin or UCH-L1 genes cause nigral dopaminergic cell death in familial PD."
15018843
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"For example, in addition to the forms of PD caused by UCH-L1 and parkin mutations (Leroy et al., 1998; Kitada et al., 1998; Shimura et al., 2000), a mutant form of Ub called Ub +1 has been detected in[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
12814656
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"A missense mutation in the UCHL1 gene (PARK 5) has been found to cause one form of familial PD [4] , although there has been no follow-up corroboration and its role in PD pathogenesis remains inconclu[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
24507721
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"Among them, pathogenic mutations in SCNA, UCHL1, and LRRK2 genes contribute to an autosomal dominant phenomenon, whereas others follow an autosomal recessive transmission of symptomatic PD [ 111 ]."
31102655
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"An Ile93Met mutation in the gene encoding UCH-L1, resulting in a reduced enzymatic activity, is thought to cause autosomal dominant PD in one family of German descent [12]."
12067634
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"Hereditary PD family cases are mainly caused by mutations in the genes SNCA, PARKIN, UCHL1, PINK1, DJ-1, and LRKK2 (Xiromerisiou et al., 2010)."
37038472
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"Mutations in alpha-synuclein and UchL1 cause autosomal dominant PD and mutations in parkin and DJ-1 cause autosomal recessive PD."
28330770
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"SNCA, UCH-L1, and LRRK2 mutations cause autosomal dominant PD and the remaining gene mutations autosomal recessive PD."
17017529
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"Additionally, PD gene products, including DJ-1, SNCA, UCH-L1, PINK-1, and Parkin, also interfere with mitochondrial function leading to reactive oxygen species production and dopaminergic neuronal vulnerability to oxidative stress."
32457638
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"AS Uchl1 promoted the expression of Uchl1 protein by regulating Uchl1 mRNA, while down-regulated AS Uchl1 expression induced PD disease progression."
33762908
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"We propose that aberrant interactions of UCH-L1 variants with CMA machinery, at least partly, underlie the pathogenesis of I93M UCH-L1-associated PD, and possibly of sporadic PD."
18635949
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"An I93M substitution in ubiquitin C-terminal hydrolase ( UCHL1 ) has been suggested to cause PD in a pair of affected siblings; however, most genetic evidence comes from a meta-analysis of association[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
16406842
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"The recent finding that mutations in the carboxy-terminal hydrolase UCH-L1 cause PD supports this hypothesis 35."
11006527
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"Thus, currently we are trying to establish a germ-line transgenic animal system carrying the dominant mutation (I93M), which causes PD in human, rather than wild-type Uch-L1, under control of neuron-s[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
14680807
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"Mutations of SNCA, LRRK2, and UCHL1 genes cause familial PD."
27171370
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"Additionally, nitrosylation covalently attaches nitric oxide moiety to cysteine residues, S-Nitrosylation of deubiquitinase enzyme UCHL1 at C90, C152, C220 induces α-synuclein aggregation in PD ( Kuma[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
33775891
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"Mutations in alpha-synuclein and ubiquitin carboxy hydrolase L1 (UchL1) cause autosomal dominant PD and mutations in parkin and DJ-1 cause autosomal recessive PD."
14579120
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"Conversely, other gene sets related to neurodegenerative diseases that included “SOD1 Mutation in Amyotrophic Lateral Sclerosis”, and “Young Onset PARK2, PINK1, and UCHL1 Induced Parkinson's Disease” [MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
34044035
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"Although there are limiting studies assessing GFAP and UCHL1 biomarkers potential in PD, our results are consistent with recent findings that serum or CSF GFAP levels are not significantly changed between PD and controls, although CSF GFAP levels were increased in one study ."
36997567
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"The S-nitrosylation of UCHL1 can destroy its structural stability and enhance synuclein accumulation in PD mouse model ( Kumar et al., 2017 )."
29288112
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"A missense mutation in the UCH-L1 gene (PARK5), resulting in the amino acid substitution Ile 93 --> Met, can also cause very rare autosomal dominant PD [XREF_BIBR]."
21258649
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"Mutations in alpha-synuclein XREF_BIBR, parkin XREF_BIBR, DJ-1 XREF_BIBR, PINK-1 XREF_BIBR, UCH-L1 XREF_BIBR, LRRK2 XREF_BIBR, ATP13A2 XREF_BIBR, Omi and HtrA2 XREF_BIBR and NR4A2 XREF_BIBR have been reported to cause familial PD."
22792139
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"In PD, one study presents evidence for mutations in UCH-L1 causing familial PD [XREF_BIBR]."
21839151
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"This is due to the presence of ubiquitin in Lewy pathology (Alves-Rodrigues et al., 1998), a decreased level of proteasomal subunits in nigral brain homogenates (McNaught and Jenner, 2001) and autosom[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"
17706644
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"The genes SNCA (PARK1), UCHL1 (PARK5), LRRK2 (PARK8), GIGYF2 (PARK11), OMI and HTRA2 (PARK13), VPS35 (PARK17), and EIF4G1 (PARK18) result in autosomal dominant PD, and PRKN (PARK2), DJ-1 (PARK7), ATP13A2 (PARK9), PLA2G6 (PARK14), FBX07 (PARK15), DNJC6 (PARK19), and SYNJ1 (PARK20) causes autosomal recessive PD."
29217998
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"Mutations in the gene encoding alpha-synuclein represent autosomal dominant familial PD, and mutations in genes encoding parkin, UCHL1, DJ-1, PINK1, and LRRK2 cause autosomal recessive familial PD."
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