IndraLab

Statements

reach
"AS Uchl1 promoted the expression of Uchl1 protein by regulating Uchl1 mRNA, while down-regulated AS Uchl1 expression induced PD disease progression."
33762908
reach
"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
reach
"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
reach
"In PD, one study presents evidence for mutations in UCH-L1 causing familial PD [XREF_BIBR]."
21839151
reach
"The recent finding that mutations in the carboxy-terminal hydrolase UCH-L1 cause PD supports this hypothesis 35."
11006527
reach
"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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"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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"Specifically, mutations in alpha-synuclein, parkin, UCHL1, DJ1, PINK1, and LRRK2 cause PD, with a Mendelian pattern of inheritance."
16717248
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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
reach
"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."
28018215
reach
"SNCA, UCH-L1, and LRRK2 mutations cause autosomal dominant PD and the remaining gene mutations autosomal recessive PD."
17017529
reach
"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
reach
"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
reach
"Mutations in alpha-synuclein and UchL1 cause autosomal dominant PD and mutations in parkin and DJ-1 cause autosomal recessive PD."
28330770
reach
"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
reach
"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
reach
"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
reach
"Mutations of SNCA, LRRK2, and UCHL1 genes cause familial PD."
27171370
reach
"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