[1]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
TISSUE=Lung, and Muscle;
DOI=10.1101/gr.2596504; PubMed=15489334 [NCBI, ExPASy, EBI, Israel, Japan]
The MGC Project Team;
"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).";
Genome Res. 14:2121-2127(2004).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] OF 1-15.
PubMed=2163617 [NCBI, ExPASy, EBI, Israel, Japan]
Day I.N.M.,
Hinks L.J.,
Thompson R.J.;
"The structure of the human gene encoding protein gene product 9.5 (PGP9.5), a neuron-specific ubiquitin C-terminal hydrolase.";
Biochem. J. 268:521-524(1990).
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[3]
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PROTEIN SEQUENCE OF 1-15 AND 214-221, SUSCEPTIBILITY TO OXIDATION, IDENTIFICATION BY MASS SPECTROMETRY, TISSUE SPECIFICITY, AND DISEASE.
DOI=10.1074/jbc.M314124200; PubMed=14722078 [NCBI, ExPASy, EBI, Israel, Japan]
Choi J.,
Levey A.I.,
Weintraub S.T.,
Rees H.D.,
Gearing M.,
Chin L.-S.,
Li L.;
"Oxidative modifications and down-regulation of ubiquitin carboxyl-terminal hydrolase L1 associated with idiopathic Parkinson's and Alzheimer's diseases.";
J. Biol. Chem. 279:13256-13264(2004).
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[4]
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PROTEIN SEQUENCE OF 84-105; 136-153 AND 158-195, AND MASS SPECTROMETRY.
TISSUE=Brain, and Cajal-Retzius cell;
Lubec G.,
Afjehi-Sadat L.;
Submitted (MAR-2007) to UniProtKB.
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[5]
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NUCLEOTIDE SEQUENCE [MRNA] OF 7-223, AND PARTIAL PROTEIN SEQUENCE.
DOI=10.1016/0014-5793(87)81327-3; PubMed=2947814 [NCBI, ExPASy, EBI, Israel, Japan]
Day I.N.M.,
Thompson R.J.;
"Molecular cloning of cDNA coding for human PGP 9.5 protein. A novel cytoplasmic marker for neurones and neuroendocrine cells.";
FEBS Lett. 210:157-160(1987).
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[6]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 16-223, VARIANT MET-93, AND BIOPHYSICOCHEMICAL PROPERTIES.
DOI=10.1038/26652; PubMed=9774100 [NCBI, ExPASy, EBI, Israel, Japan]
Leroy E.,
Boyer R.,
Auburger G.,
Leube B.,
Ulm G.,
Mezey E.,
Harta G.,
Brownstein M.J.,
Jonnalagada S.,
Chernova T.,
Dehejia A.,
Lavedan C.,
Gasser T.,
Steinbach P.J.,
Wilkinson K.D.,
Polymeropoulos M.H.;
"The ubiquitin pathway in Parkinson's disease.";
Nature 395:451-452(1998).
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[7]
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PROTEIN SEQUENCE OF 20-25; 79-81; 106-121 AND 134-151.
DOI=10.1016/0014-5793(91)80300-R; PubMed=1849484 [NCBI, ExPASy, EBI, Israel, Japan]
Honore B.,
Rasmussen H.H.,
Vandekerckhove J.,
Celis J.E.;
"Neuronal protein gene product 9.5 (IEF SSP 6104) is expressed in cultured human MRC-5 fibroblasts of normal origin and is strongly down-regulated in their SV40 transformed counterparts.";
FEBS Lett. 280:235-240(1991).
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[8]
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PROTEIN SEQUENCE OF 20-25; 79-91; 106-123 AND 136-151.
PubMed=1286667 [NCBI, ExPASy, EBI, Israel, Japan]
Rasmussen H.H.,
van Damme J.,
Puype M.,
Gesser B.,
Celis J.E.,
Vandekerckhove J.;
"Microsequences of 145 proteins recorded in the two-dimensional gel protein database of normal human epidermal keratinocytes.";
Electrophoresis 13:960-969(1992).
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[9]
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ACTIVE SITE, MUTAGENESIS OF GLN-73; CYS-90; HIS-97; HIS-161 AND ASP-176, AND BIOPHYSICOCHEMICAL PROPERTIES.
DOI=10.1021/bi960099f; PubMed=8639624 [NCBI, ExPASy, EBI, Israel, Japan]
Larsen C.N.,
Price J.S.,
Wilkinson K.D.;
"Substrate binding and catalysis by ubiquitin C-terminal hydrolases: identification of two active site residues.";
Biochemistry 35:6735-6744(1996).
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[10]
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FUNCTION, AND TISSUE SPECIFICITY.
DOI=10.1006/bbrc.1998.9532; PubMed=9790970 [NCBI, ExPASy, EBI, Israel, Japan]
Wada H.,
Kito K.,
Caskey L.S.,
Yeh E.T.H.,
Kamitani T.;
"Cleavage of the C-terminus of NEDD8 by UCH-L3.";
Biochem. Biophys. Res. Commun. 251:688-692(1998).
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[11]
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FUNCTION, AND CHARACTERIZATION OF VARIANTS TYR-18 AND MET-93.
DOI=10.1016/S0092-8674(02)01012-7; PubMed=12408865 [NCBI, ExPASy, EBI, Israel, Japan]
Liu Y.,
Fallon L.,
Lashuel H.A.,
Liu Z.,
Lansbury P.T. Jr.;
"The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility.";
Cell 111:209-218(2002).
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[12]
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INTERACTION WITH COPS5.
DOI=10.1038/sj.onc.1205390; PubMed=12082530 [NCBI, ExPASy, EBI, Israel, Japan]
Caballero O.L.,
Resto V.,
Patturajan M.,
Meerzaman D.,
Guo M.Z.,
Engles J.,
Yochem R.,
Ratovitski E.,
Sidransky D.,
Jen J.;
"Interaction and colocalization of PGP9.5 with JAB1 and p27(Kip1).";
Oncogene 21:3003-3010(2002).
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[13]
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CHARACTERIZATION OF VARIANTS TYR-18 AND MET-93, MUTAGENESIS OF CYS-90, AND BIOPHYSICOCHEMICAL PROPERTIES.
DOI=10.1016/S0006-291X(03)00555-2; PubMed=12705903 [NCBI, ExPASy, EBI, Israel, Japan]
Nishikawa K.,
Li H.,
Kawamura R.,
Osaka H.,
Wang Y.-L.,
Hara Y.,
Hirokawa T.,
Manago Y.,
Amano T.,
Noda M.,
Aoki S.,
Wada K.;
"Alterations of structure and hydrolase activity of parkinsonism-associated human ubiquitin carboxyl-terminal hydrolase L1 variants.";
Biochem. Biophys. Res. Commun. 304:176-183(2003).
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[14]
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VARIANT MET-93.
DOI=10.1016/S0304-3940(99)00465-6; PubMed=10454131 [NCBI, ExPASy, EBI, Israel, Japan]
Harhangi B.S.,
Farrer M.J.,
Lincoln S.,
Bonifati V.,
Meco G.,
De Michele G.,
Brice A.,
Durr A.,
Martinez M.,
Gasser T.,
Bereznai B.,
Vaughan J.R.,
Wood N.W.,
Hardy J.,
Oostra B.A.,
Breteler M.M.;
"The Ile93Met mutation in the ubiquitin carboxy-terminal-hydrolase-L1 gene is not observed in European cases with familial Parkinson's disease.";
Neurosci. Lett. 270:1-4(1999).
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[15]
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VARIANT TYR-18.
PubMed=10203348 [NCBI, ExPASy, EBI, Israel, Japan]
Lincoln S.,
Vaughan J.,
Wood N.,
Baker M.,
Adamson J.,
Gwinn-Hardy K.,
Lynch T.,
Hardy J.,
Farrer M.;
"Low frequency of pathogenic mutations in the ubiquitin carboxy-terminal hydrolase gene in familial Parkinson's disease.";
NeuroReport 10:427-429(1999).
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[16]
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VARIANT TYR-18.
DOI=10.1016/S0304-3940(00)01510-X; PubMed=11027850 [NCBI, ExPASy, EBI, Israel, Japan]
Mellick G.D.,
Silburn P.A.;
"The ubiquitin carboxy-terminal hydrolase-L1 gene S18Y polymorphism does not confer protection against idiopathic Parkinson's disease.";
Neurosci. Lett. 293:127-130(2000).
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[17]
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INVERSE ASSOCIATION OF VARIANT TYR-18 WITH PARKINSON DISEASE.
DOI=10.1002/ana.20017; PubMed=15048890 [NCBI, ExPASy, EBI, Israel, Japan]
UCHL1 global genetics consortium;
Maraganore D.M.,
Lesnick T.G.,
Elbaz A.,
Chartier-Harlin M.-C.,
Gasser T.,
Krueger R.,
Hattori N.,
Mellick G.D.,
Quattrone A.,
Satoh J.,
Toda T.,
Wang J.,
Ioannidis J.P.A.,
de Andrade M.,
Rocca W.A.;
"UCHL1 is a Parkinson's disease susceptibility gene.";
Ann. Neurol. 55:512-521(2004).
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[18]
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ERRATUM.
UCHL1 global genetics consortium;
Maraganore D.M.,
Lesnick T.G.,
Elbaz A.,
Chartier-Harlin M.-C.,
Gasser T.,
Krueger R.,
Hattori N.,
Mellick G.D.,
Quattrone A.,
Satoh J.,
Toda T.,
Wang J.,
Ioannidis J.P.A.,
de Andrade M.,
Rocca W.A.;
Ann. Neurol. 55:899-899(2004).
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