[1]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2), AND INVOLVEMENT IN JUVENILE PARKINSON DISEASE.
TISSUE=Fetal brain, and Skeletal muscle;
DOI=10.1038/33416; PubMed=9560156 [NCBI, ExPASy, EBI, Israel, Japan]
Kitada T.,
Asakawa S.,
Hattori N.,
Matsumine H.,
Yamamura Y.,
Minoshima S.,
Yokochi M.,
Mizuno Y.,
Shimizu N.;
"Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism.";
Nature 392:605-608(1998).
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[2]
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NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 3 AND 4).
D'Agata V.,
Scapagnini G.,
Cavallaro S.;
"Functional and molecular diversity of parkin.";
Submitted (MAY-2001) to the EMBL/GenBank/DDBJ databases.
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[3]
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NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
DOI=10.1038/nature02055; PubMed=14574404 [NCBI, ExPASy, EBI, Israel, Japan]
Mungall A.J.,
Palmer S.A.,
Sims S.K.,
Edwards C.A.,
Ashurst J.L.,
Wilming L.,
Jones M.C.,
Horton R.,
Hunt S.E.,
Scott C.E.,
Gilbert J.G.R.,
Clamp M.E.,
Bethel G.,
Milne S.,
Ainscough R.,
Almeida J.P.,
Ambrose K.D.,
Andrews T.D.,
Ashwell R.I.S., ![]()
Babbage A.K.,
Bagguley C.L.,
Bailey J.,
Banerjee R.,
Barker D.J.,
Barlow K.F.,
Bates K.,
Beare D.M.,
Beasley H.,
Beasley O.,
Bird C.P.,
Blakey S.E.,
Bray-Allen S.,
Brook J.,
Brown A.J.,
Brown J.Y.,
Burford D.C.,
Burrill W.,
Burton J.,
Carder C.,
Carter N.P.,
Chapman J.C.,
Clark S.Y.,
Clark G.,
Clee C.M.,
Clegg S.,
Cobley V.,
Collier R.E.,
Collins J.E.,
Colman L.K.,
Corby N.R.,
Coville G.J.,
Culley K.M.,
Dhami P.,
Davies J.,
Dunn M.,
Earthrowl M.E.,
Ellington A.E.,
Evans K.A.,
Faulkner L.,
Francis M.D.,
Frankish A.,
Frankland J.,
French L.,
Garner P.,
Garnett J.,
Ghori M.J.,
Gilby L.M.,
Gillson C.J.,
Glithero R.J.,
Grafham D.V.,
Grant M.,
Gribble S.,
Griffiths C.,
Griffiths M.N.D.,
Hall R.,
Halls K.S.,
Hammond S.,
Harley J.L.,
Hart E.A.,
Heath P.D.,
Heathcott R.,
Holmes S.J.,
Howden P.J.,
Howe K.L.,
Howell G.R.,
Huckle E.,
Humphray S.J.,
Humphries M.D.,
Hunt A.R.,
Johnson C.M.,
Joy A.A.,
Kay M.,
Keenan S.J.,
Kimberley A.M.,
King A.,
Laird G.K.,
Langford C.,
Lawlor S.,
Leongamornlert D.A.,
Leversha M.,
Lloyd C.R.,
Lloyd D.M.,
Loveland J.E.,
Lovell J.,
Martin S.,
Mashreghi-Mohammadi M.,
Maslen G.L.,
Matthews L.,
McCann O.T.,
McLaren S.J.,
McLay K.,
McMurray A.,
Moore M.J.F.,
Mullikin J.C.,
Niblett D.,
Nickerson T.,
Novik K.L.,
Oliver K.,
Overton-Larty E.K.,
Parker A.,
Patel R.,
Pearce A.V.,
Peck A.I.,
Phillimore B.J.C.T.,
Phillips S.,
Plumb R.W.,
Porter K.M.,
Ramsey Y.,
Ranby S.A.,
Rice C.M.,
Ross M.T.,
Searle S.M.,
Sehra H.K.,
Sheridan E.,
Skuce C.D.,
Smith S.,
Smith M.,
Spraggon L.,
Squares S.L.,
Steward C.A.,
Sycamore N.,
Tamlyn-Hall G.,
Tester J.,
Theaker A.J.,
Thomas D.W.,
Thorpe A.,
Tracey A.,
Tromans A.,
Tubby B.,
Wall M.,
Wallis J.M.,
West A.P.,
White S.S.,
Whitehead S.L.,
Whittaker H.,
Wild A.,
Willey D.J.,
Wilmer T.E.,
Wood J.M.,
Wray P.W.,
Wyatt J.C.,
Young L.,
Younger R.M.,
Bentley D.R.,
Coulson A.,
Durbin R.M.,
Hubbard T.,
Sulston J.E.,
Dunham I.,
Rogers J.,
Beck S.;
"The DNA sequence and analysis of human chromosome 6.";
Nature 425:805-811(2003).
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[4]
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NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
TISSUE=Testis;
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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[5]
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NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 312-361.
Zou H.Q.,
Chan P.;
Submitted (MAR-2004) to the EMBL/GenBank/DDBJ databases.
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[6]
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SUBCELLULAR LOCATION.
DOI=10.1002/1531-8249(199905)45:5<668::AID-ANA19>3.0.CO;2-Z; PubMed=10319893 [NCBI, ExPASy, EBI, Israel, Japan]
Shimura H.,
Hattori N.,
Kubo S.,
Yoshikawa M.,
Kitada T.,
Matsumine H.,
Asakawa S.,
Minoshima S.,
Yamamura Y.,
Shimizu N.,
Mizuno Y.;
"Immunohistochemical and subcellular localization of Parkin protein: absence of protein in autosomal recessive juvenile parkinsonism patients.";
Ann. Neurol. 45:668-672(1999).
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[7]
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FUNCTION IN UBIQUITINATION.
DOI=10.1074/jbc.C000447200; PubMed=10973942 [NCBI, ExPASy, EBI, Israel, Japan]
Imai Y.,
Soda M.,
Takahashi R.;
"Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity.";
J. Biol. Chem. 275:35661-35664(2000).
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[8]
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FUNCTION, AND CHARACTERIZATION OF VARIANTS PD PRO-42 AND ARG-240.
DOI=10.1038/77060; PubMed=10888878 [NCBI, ExPASy, EBI, Israel, Japan]
Shimura H.,
Hattori N.,
Kubo S.,
Mizuno Y.,
Asakawa S.,
Minoshima S.,
Shimizu N.,
Iwai K.,
Chiba T.,
Tanaka K.,
Suzuki T.;
"Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase.";
Nat. Genet. 25:302-305(2000).
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[9]
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INTERACTION WITH UBE2L6 AND SEPT5, AND UBIQUITINATION OF SEPT5.
DOI=10.1073/pnas.240347797; PubMed=11078524 [NCBI, ExPASy, EBI, Israel, Japan]
Zhang Y.,
Gao J.,
Chung K.K.K.,
Huang H.,
Dawson V.L.,
Dawson T.M.;
"Parkin functions as an E2-dependent ubiquitin-protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1.";
Proc. Natl. Acad. Sci. U.S.A. 97:13354-13359(2000).
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[10]
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UBIQUITINATION OF GPR37.
DOI=10.1016/S0092-8674(01)00407-X; PubMed=11439185 [NCBI, ExPASy, EBI, Israel, Japan]
Imai Y.,
Soda M.,
Inoue H.,
Hattori N.,
Mizuno Y.,
Takahashi R.;
"An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin.";
Cell 105:891-902(2001).
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[11]
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INTERACTION, UBIQUITINATION OF SNCAIP, CHARACTERIZATION OF VARIANTS PARK2 ARG-240; CYS-256; TRP-275 AND ASN-415, AND MUTAGENESIS OF CYS-337; CYS-421 AND CYS-431.
DOI=10.1038/nm1001-1144; PubMed=11590439 [NCBI, ExPASy, EBI, Israel, Japan]
Chung K.K.K.,
Zhang Y.,
Lim K.L.,
Tanaka Y.,
Huang H.,
Gao J.,
Ross C.A.,
Dawson V.L.,
Dawson T.M.;
"Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease.";
Nat. Med. 7:1144-1150(2001).
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[12]
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UBIQUITINATION OF AN O-GLYCOSYLATED ISOFORM OF SNCAIP, SUBCELLULAR LOCATION, AND CHARACTERIZATION OF VARIANTS PD PRO-42 AND ARG-240.
DOI=10.1126/science.1060627; PubMed=11431533 [NCBI, ExPASy, EBI, Israel, Japan]
Shimura H.,
Schlossmacher M.G.,
Hattori N.,
Frosch M.P.,
Trockenbacher A.,
Schneider R.,
Mizuno Y.,
Kosik K.S.,
Selkoe D.J.;
"Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease.";
Science 293:263-269(2001).
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[13]
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PRESENCE OF ATYPICAL RING FINGER DOMAINS.
PubMed=12446796 [NCBI, ExPASy, EBI, Israel, Japan]
Marin I.,
Ferrus A.;
"Comparative genomics of the RBR family, including the Parkinson's disease-related gene parkin and the genes of the ariadne subfamily.";
Mol. Biol. Evol. 19:2039-2050(2002).
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[14]
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INTERACTION WITH STUB1 AND HSP70, AND UBIQUITINATION OF STUB1.
DOI=10.1016/S1097-2765(02)00583-X; PubMed=12150907 [NCBI, ExPASy, EBI, Israel, Japan]
Imai Y.,
Soda M.,
Hatakeyama S.,
Akagi T.,
Hashikawa T.,
Nakayama K.,
Takahashi R.;
"CHIP is associated with Parkin, a gene responsible for familial Parkinson's disease, and enhances its ubiquitin ligase activity.";
Mol. Cell 10:55-67(2002).
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[15]
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INTERACTION WITH SYT11, CHARACTERIZATION OF VARIANT PD GLY-289, AND MUTAGENESIS OF CYS-418.
DOI=10.1093/hmg/ddg269; PubMed=12925569 [NCBI, ExPASy, EBI, Israel, Japan]
Huynh D.P.,
Scoles D.R.,
Nguyen D.,
Pulst S.M.;
"The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI.";
Hum. Mol. Genet. 12:2587-2597(2003).
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[16]
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INTERACTION WITH PACRG.
DOI=10.1074/jbc.M309655200; PubMed=14532270 [NCBI, ExPASy, EBI, Israel, Japan]
Imai Y.,
Soda M.,
Murakami T.,
Shoji M.,
Abe K.,
Takahashi R.;
"A product of the human gene adjacent to parkin is a component of Lewy bodies and suppresses Pael receptor-induced cell death.";
J. Biol. Chem. 278:51901-51910(2003).
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[17]
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FUNCTION, INTERACTION WITH FBXW7 AND CUL1, AND UBIQUITINATION OF CYCLIN E.
DOI=10.1016/S0896-6273(03)00084-9; PubMed=12628165 [NCBI, ExPASy, EBI, Israel, Japan]
Staropoli J.F.,
McDermott C.,
Martinat C.,
Schulman B.,
Demireva E.,
Abeliovich A.;
"Parkin is a component of an SCF-like ubiquitin ligase complex and protects postmitotic neurons from kainate excitotoxicity.";
Neuron 37:735-749(2003).
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[18]
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INVOLVEMENT IN CANCER.
DOI=10.1038/sj.onc.1207072; PubMed=14614460 [NCBI, ExPASy, EBI, Israel, Japan]
Denison S.R.,
Wang F.,
Becker N.A.,
Schuele B.,
Kock N.,
Phillips L.A.,
Klein C.,
Smith D.I.;
"Alterations in the common fragile site gene Parkin in ovarian and other cancers.";
Oncogene 22:8370-8378(2003).
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[19]
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FUNCTION, AND INVOLVEMENT IN CANCER.
DOI=10.1073/pnas.0931262100; PubMed=12719539 [NCBI, ExPASy, EBI, Israel, Japan]
Cesari R.,
Martin E.S.,
Calin G.A.,
Pentimalli F.,
Bichi R.,
McAdams H.,
Trapasso F.,
Drusco A.,
Shimizu M.,
Masciullo V.,
D'Andrilli G.,
Scambia G.,
Picchio M.C.,
Alder H.,
Godwin A.K.,
Croce C.M.;
"Parkin, a gene implicated in autosomal recessive juvenile parkinsonism, is a candidate tumor suppressor gene on chromosome 6q25-q27.";
Proc. Natl. Acad. Sci. U.S.A. 100:5956-5961(2003).
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[20]
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REVIEW.
DOI=10.1038/sj.embor.7400188; PubMed=15229644 [NCBI, ExPASy, EBI, Israel, Japan]
Kahle P.J.,
Haass C.;
"How does parkin ligate ubiquitin to Parkinson's disease?";
EMBO Rep. 5:681-685(2004).
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[21]
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FUNCTION, UBIQUITINATION, AND S-NITROSYLATION.
DOI=10.1126/science.1093891; PubMed=15105460 [NCBI, ExPASy, EBI, Israel, Japan]
Chung K.K.K.,
Thomas B.,
Li X.,
Pletnikova O.,
Troncoso J.C.,
Marsh L.,
Dawson V.L.,
Dawson T.M.;
"S-nitrosylation of parkin regulates ubiquitination and compromises parkin's protective function.";
Science 304:1328-1331(2004).
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[22]
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INTERACTION WITH LRRK2.
DOI=10.1073/pnas.0508052102; PubMed=16352719 [NCBI, ExPASy, EBI, Israel, Japan]
Smith W.W.,
Pei Z.,
Jiang H.,
Moore D.J.,
Liang Y.,
West A.B.,
Dawson V.L.,
Dawson T.M.,
Ross C.A.;
"Leucine-rich repeat kinase 2 (LRRK2) interacts with parkin and mutant LRRK2 induces neuronal degeneration.";
Proc. Natl. Acad. Sci. U.S.A. 102:18676-18681(2005).
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[23]
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INTERACTION WITH RANBP2.
DOI=10.1074/jbc.M504994200; PubMed=16332688 [NCBI, ExPASy, EBI, Israel, Japan]
Um J.W.,
Min D.S.,
Rhim H.,
Kim J.,
Paik S.R.,
Chung K.C.;
"Parkin ubiquitinates and promotes the degradation of RanBP2.";
J. Biol. Chem. 281:3595-3603(2006).
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[24]
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INTERACTION WITH SUMO1, AND SUBCELLULAR LOCATION.
DOI=10.1002/jnr.21041; PubMed=16955485 [NCBI, ExPASy, EBI, Israel, Japan]
Um J.W.,
Chung K.C.;
"Functional modulation of parkin through physical interaction with SUMO-1.";
J. Neurosci. Res. 84:1543-1554(2006).
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[25]
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STRUCTURE BY NMR OF 1-76, AND INTERACTION WITH PSMD4.
DOI=10.1038/sj.embor.embor764; PubMed=12634850 [NCBI, ExPASy, EBI, Israel, Japan]
Sakata E.,
Yamaguchi Y.,
Kurimoto E.,
Kikuchi J.,
Yokoyama S.,
Yamada S.,
Kawahara H.,
Yokosawa H.,
Hattori N.,
Mizuno Y.,
Tanaka K.,
Kato K.;
"Parkin binds the Rpn10 subunit of 26S proteasomes through its ubiquitin-like domain.";
EMBO Rep. 4:301-306(2003).
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[26]
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STRUCTURE BY NMR OF 307-384 IN COMPLEX WITH ZINC IONS, CHARACTERIZATION OF VARIANT PARK2 PRO-351, MUTAGENESIS OF CYS-332 AND CYS-365, AND MASS SPECTROMETRY.
DOI=10.1073/pnas.0610548104; PubMed=17360614 [NCBI, ExPASy, EBI, Israel, Japan]
Beasley S.A.,
Hristova V.A.,
Shaw G.S.;
"Structure of the Parkin in-between-ring domain provides insights for E3-ligase dysfunction in autosomal recessive Parkinson's disease.";
Proc. Natl. Acad. Sci. U.S.A. 104:3095-3100(2007).
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[27]
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REVIEW ON VARIANTS.
DOI=10.1093/hmg/ddh089; PubMed=14976155 [NCBI, ExPASy, EBI, Israel, Japan]
Mata I.F.,
Lockhart P.J.,
Farrer M.J.;
"Parkin genetics: one model for Parkinson's disease.";
Hum. Mol. Genet. 13:R127-R133(2004).
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[28]
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VARIANT PARK2 ARG-240.
DOI=10.1006/bbrc.1998.9134; PubMed=9731209 [NCBI, ExPASy, EBI, Israel, Japan]
Hattori N.,
Matsumine H.,
Asakawa S.,
Kitada T.,
Yoshino H.,
Elibol B.,
Brookes A.J.,
Yamamura Y.,
Kobayashi T.,
Wang M.,
Yoritaka A.,
Minoshima S.,
Shimizu N.,
Mizuno Y.;
"Point mutations (Thr240Arg and Gln311Stop) in the Parkin gene.";
Biochem. Biophys. Res. Commun. 249:754-758(1998).
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[29]
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ERRATUM.
Hattori N.,
Matsumine H.,
Asakawa S.,
Kitada T.,
Yoshino H.,
Elibol B.,
Brookes A.J.,
Yamamura Y.,
Kobayashi T.,
Wang M.,
Yoritaka A.,
Minoshima S.,
Shimizu N.,
Mizuno Y.;
Biochem. Biophys. Res. Commun. 251:666-666(1998).
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[30]
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VARIANTS PARK2 ASN-161; CYS-256; TRP-275 AND ASN-415, AND VARIANTS ASN-167; LEU-380 AND ASN-394.
DOI=10.1093/hmg/8.4.567; PubMed=10072423 [NCBI, ExPASy, EBI, Israel, Japan]
Abbas N.,
Luecking C.B.,
Ricard S.,
Duerr A.,
Bonifati V.,
De Michele G.,
Bouley S.,
Vaughan J.R.,
Gasser T.,
Marconi R.,
Broussolle E.,
Brefel-Courbon C.,
Harhangi B.S.,
Oostra B.A.,
Fabrizio E.,
Bohme G.A.,
Pradier L.,
Wood N.W.,
Filla A., ![]()
Meco G.,
Denefle P.,
Agid Y.,
Brice A.;
"A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe.";
Hum. Mol. Genet. 8:567-574(1999).
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[31]
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VARIANT ASN-167.
PubMed=10511432 [NCBI, ExPASy, EBI, Israel, Japan]
Satoh J.,
Kuroda Y.;
"Association of codon 167 Ser/Asn heterozygosity in the parkin gene with sporadic Parkinson's disease.";
NeuroReport 10:2735-2739(1999).
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[32]
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VARIANT PARK2 PHE-431.
DOI=10.1002/1531-8249(200008)48:2<245::AID-ANA15>3.3.CO;2-U; PubMed=10939576 [NCBI, ExPASy, EBI, Israel, Japan]
Maruyama M.,
Ikeuchi T.,
Saito M.,
Ishikawa A.,
Yuasa T.,
Tanaka H.,
Hayashi S.,
Wakabayashi K.,
Takahashi H.,
Tsuji S.;
"Novel mutations, pseudo-dominant inheritance, and possible familial affects in patients with autosomal recessive juvenile parkinsonism.";
Ann. Neurol. 48:245-250(2000).
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[33]
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VARIANTS ASN-167; TRP-366 AND LEU-380.
DOI=10.1159/000008203; PubMed=10965160 [NCBI, ExPASy, EBI, Israel, Japan]
Hu C.-J.,
Sung S.-M.,
Liu H.-C.,
Lee C.-C.,
Tsai C.-H.,
Chang J.-G.;
"Polymorphisms of the parkin gene in sporadic Parkinson's disease among Chinese in Taiwan.";
Eur. Neurol. 44:90-93(2000).
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[34]
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VARIANTS PD ASN-161; ASN-211; CYS-256; TRP-275; ASN-280; GLY-289; GLU-328; CYS-334; ASN-415 AND ASP-430.
DOI=10.1056/NEJM200005253422103; PubMed=10824074 [NCBI, ExPASy, EBI, Israel, Japan]
Luecking C.B.,
Duerr A.,
Bonifati V.,
Vaughan J.R.,
De Michele G.,
Gasser T.,
Harhangi B.S.,
Meco G.,
Denefle P.,
Wood N.W.,
Agid Y.,
Brice A.;
"Association between early-onset Parkinson's disease and mutations in the parkin gene.";
N. Engl. J. Med. 342:1560-1567(2000).
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[35]
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VARIANTS PD ARG-211; TRP-275 AND ASP-430.
DOI=10.1086/318791; PubMed=11179010 [NCBI, ExPASy, EBI, Israel, Japan]
Periquet M.,
Luecking C.B.,
Vaughan J.R.,
Bonifati V.,
Duerr A.,
De Michele G.,
Horstink M.,
Farrer M.,
Illarioshkin S.N.,
Pollak P.,
Borg M.,
Brefel-Courbon C.,
Denefle P.,
Meco G.,
Gasser T.,
Breteler M.M.,
Wood N.W.,
Agid Y.,
Brice A.;
"Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from founder effects.";
Am. J. Hum. Genet. 68:617-626(2001).
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[36]
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VARIANT PARK2 GLU-82.
DOI=10.1093/hmg/10.16.1649; PubMed=11487568 [NCBI, ExPASy, EBI, Israel, Japan]
Hedrich K.,
Kann M.,
Lanthaler A.J.,
Dalski A.,
Eskelson C.,
Landt O.,
Schwinger E.,
Vieregge P.,
Lang A.E.,
Breakefield X.O.,
Ozelius L.J.,
Pramstaller P.P.,
Klein C.;
"The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism.";
Hum. Mol. Genet. 10:1649-1656(2001).
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[37]
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VARIANT PARK2 TYR-212.
DOI=10.1016/S0304-3940(00)01733-X; PubMed=11163284 [NCBI, ExPASy, EBI, Israel, Japan]
Pineda-Trujillo N.,
Carvajal-Carmona L.G.,
Buritica O.,
Moreno S.,
Uribe C.,
Pineda D.,
Toro M.,
Garcia F.,
Arias W.,
Bedoya G.,
Lopera F.,
Ruiz-Linares A.;
"A novel Cys212Tyr founder mutation in parkin and allelic heterogeneity of juvenile parkinsonism in a population from North West Colombia.";
Neurosci. Lett. 298:87-90(2001).
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[38]
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VARIANTS PD GLU-82; CYS-256; TRP-275; GLU-328 AND 441-ARG.
DOI=10.1002/ajmg.10525; PubMed=12116199 [NCBI, ExPASy, EBI, Israel, Japan]
French Parkinson's disease genetics study group; European consortium on genetic susceptibility on Parkinson's disease;
West A.,
Periquet M.,
Lincoln S.,
Luecking C.B.,
Nicholl D.,
Bonifati V.,
Rawal N.,
Gasser T.,
Lohmann E.,
Deleuze J.-F.,
Maraganore D.,
Levey A.,
Wood N.W.,
Duerr A.,
Hardy J.,
Brice A.,
Farrer M.;
"Complex relationship between parkin mutations and Parkinson disease.";
Am. J. Med. Genet. 114:584-591(2002).
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[39]
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ERRATUM.
French Parkinson's disease genetics study group; European consortium on genetic susceptibility on Parkinson's disease;
West A.,
Periquet M.,
Lincoln S.,
Luecking C.B.,
Nicholl D.,
Bonifati V.,
Rawal N.,
Gasser T.,
Lohmann E.,
Deleuze J.-F.,
Maraganore D.,
Levey A.,
Wood N.W.,
Duerr A.,
Hardy J.,
Brice A.,
Farrer M.J.;
Am. J. Med. Genet. 114:992-992(2002).
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[40]
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VARIANTS PARK2 LEU-37 AND PRO-351.
DOI=10.1002/ana.10179; PubMed=12112109 [NCBI, ExPASy, EBI, Israel, Japan]
Kann M.,
Jacobs H.,
Mohrmann K.,
Schumacher K.,
Hedrich K.,
Garrels J.,
Wiegers K.,
Schwinger E.,
Pramstaller P.P.,
Breakefield X.O.,
Ozelius L.J.,
Vieregge P.,
Klein C.;
"Role of parkin mutations in 111 community-based patients with early-onset parkinsonism.";
Ann. Neurol. 51:621-625(2002).
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[41]
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VARIANTS PD ASN-211; TRP-275; ASP-430 AND LEU-437.
DOI=10.1136/jmg.39.7.489; PubMed=12114481 [NCBI, ExPASy, EBI, Israel, Japan]
Nichols W.C.,
Pankratz N.,
Uniacke S.K.,
Pauciulo M.W.,
Halter C.,
Rudolph A.,
Conneally P.M.,
Foroud T.;
"Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families.";
J. Med. Genet. 39:489-492(2002).
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[42]
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VARIANT PD MET-15, AND VARIANTS LEU-380 AND ASN-394.
DOI=10.1136/jnnp.73.5.582; PubMed=12397156 [NCBI, ExPASy, EBI, Israel, Japan]
Munoz E.,
Tolosa E.,
Pastor P.,
Marti M.J.,
Valldeoriola F.,
Campdelacreu J.,
Oliva R.;
"Relative high frequency of the c.255delA parkin gene mutation in Spanish patients with autosomal recessive parkinsonism.";
J. Neurol. Neurosurg. Psych. 73:582-584(2002).
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[43]
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VARIANTS PD PRO-42; VAL-192; CYS-256; TRP-275; ASP-430 AND LEU-437.
PubMed=11971093 [NCBI, ExPASy, EBI, Israel, Japan]
Hedrich K.,
Marder K.,
Harris J.,
Kann M.,
Lynch T.,
Meija-Santana H.,
Pramstaller P.P.,
Schwinger E.,
Bressman S.B.,
Fahn S.,
Klein C.;
"Evaluation of 50 probands with early-onset Parkinson's disease for parkin mutations.";
Neurology 58:1239-1246(2002).
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[44]
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VARIANT PD PRO-46.
PubMed=12362318 [NCBI, ExPASy, EBI, Israel, Japan]
Xu Y.,
Liu Z.,
Wang Y.,
Tao E.,
Chen G.,
Chen B.;
"A new point mutation on exon 2 of parkin gene in Parkinson's disease.";
Zhonghua Yi Xue Yi Chuan Xue Za Zhi 19:409-411(2002).
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[45]
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VARIANTS PD GLN-33; TYR-253; CYS-256; TRP-275; ASN-280; ASP-430 AND LEU-437, AND VARIANTS GLU-82; LEU-380 AND ASN-394.
DOI=10.1002/ana.10524; PubMed=12730996 [NCBI, ExPASy, EBI, Israel, Japan]
Oliveira S.A.,
Scott W.K.,
Martin E.R.,
Nance M.A.,
Watts R.L.,
Hubble J.P.,
Koller W.C.,
Pahwa R.,
Stern M.B.,
Hiner B.C.,
Ondo W.G.,
Allen F.H. Jr.,
Scott B.L.,
Goetz C.G.,
Small G.W.,
Mastaglia F.,
Stajich J.M.,
Zhang F.,
Booze M.W., ![]()
Winn M.P.,
Middleton L.T.,
Haines J.L.,
Pericak-Vance M.A.,
Vance J.M.;
"Parkin mutations and susceptibility alleles in late-onset Parkinson's disease.";
Ann. Neurol. 53:624-629(2003).
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[46]
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VARIANTS PD VAL-192; ASN-211; MET-240 AND LEU-437, AND VARIANT ASN-167.
PubMed=12629236 [NCBI, ExPASy, EBI, Israel, Japan]
Foroud T.,
Uniacke S.K.,
Liu L.,
Pankratz N.,
Rudolph A.,
Halter C.,
Shults C.,
Marder K.,
Conneally P.M.,
Nichols W.C.;
"Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease.";
Neurology 60:796-801(2003).
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[47]
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VARIANTS HIS-100; SER-271 AND SER-339.
PubMed=12781599 [NCBI, ExPASy, EBI, Israel, Japan]
Chen R.,
Gosavi N.S.,
Langston J.W.,
Chan P.;
"Parkin mutations are rare in patients with young-onset parkinsonism in a US population.";
Parkinsonism Relat. Disord. 9:309-312(2003).
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