[1]
|
NUCLEOTIDE SEQUENCE [MRNA], TISSUE SPECIFICITY, AND VARIANTS PARK8 VAL-1122; CYS-1441; CYS-1699 AND THR-2020.
TISSUE=Brain;
DOI=10.1016/j.neuron.2004.11.005; PubMed=15541309 [NCBI, ExPASy, EBI, Israel, Japan]
Zimprich A.,
Biskup S.,
Leitner P.,
Lichtner P.,
Farrer M.,
Lincoln S.J.,
Kachergus J.M.,
Hulihan M.M.,
Uitti R.J.,
Calne D.B.,
Stoessl A.J.,
Pfeiffer R.F.,
Patenge N.,
Carballo Carbajal I.,
Vieregge P.,
Asmus F.,
Mueller-Myhsok B.,
Dickson D.W.,
Meitinger T., ![]()
Strom T.M.,
Wszolek Z.K.,
Gasser T.;
"Mutations in a large multifunctional protein (LRRK2) cause autosomal dominant parkinsonism with pleiomorphic a-synuclein and tau-pathology (PARK8).";
Neuron 44:601-607(2004).
|
[2]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 402-1271.
DOI=10.1038/ng1285; PubMed=14702039 [NCBI, ExPASy, EBI, Israel, Japan]
Ota T.,
Suzuki Y.,
Nishikawa T.,
Otsuki T.,
Sugiyama T.,
Irie R.,
Wakamatsu A.,
Hayashi K.,
Sato H.,
Nagai K.,
Kimura K.,
Makita H.,
Sekine M.,
Obayashi M.,
Nishi T.,
Shibahara T.,
Tanaka T.,
Ishii S.,
Yamamoto J., ![]()
Saito K.,
Kawai Y.,
Isono Y.,
Nakamura Y.,
Nagahari K.,
Murakami K.,
Yasuda T.,
Iwayanagi T.,
Wagatsuma M.,
Shiratori A.,
Sudo H.,
Hosoiri T.,
Kaku Y.,
Kodaira H.,
Kondo H.,
Sugawara M.,
Takahashi M.,
Kanda K.,
Yokoi T.,
Furuya T.,
Kikkawa E.,
Omura Y.,
Abe K.,
Kamihara K.,
Katsuta N.,
Sato K.,
Tanikawa M.,
Yamazaki M.,
Ninomiya K.,
Ishibashi T.,
Yamashita H.,
Murakawa K.,
Fujimori K.,
Tanai H.,
Kimata M.,
Watanabe M.,
Hiraoka S.,
Chiba Y.,
Ishida S.,
Ono Y.,
Takiguchi S.,
Watanabe S.,
Yosida M.,
Hotuta T.,
Kusano J.,
Kanehori K.,
Takahashi-Fujii A.,
Hara H.,
Tanase T.-O.,
Nomura Y.,
Togiya S.,
Komai F.,
Hara R.,
Takeuchi K.,
Arita M.,
Imose N.,
Musashino K.,
Yuuki H.,
Oshima A.,
Sasaki N.,
Aotsuka S.,
Yoshikawa Y.,
Matsunawa H.,
Ichihara T.,
Shiohata N.,
Sano S.,
Moriya S.,
Momiyama H.,
Satoh N.,
Takami S.,
Terashima Y.,
Suzuki O.,
Nakagawa S.,
Senoh A.,
Mizoguchi H.,
Goto Y.,
Shimizu F.,
Wakebe H.,
Hishigaki H.,
Watanabe T.,
Sugiyama A.,
Takemoto M.,
Kawakami B.,
Yamazaki M.,
Watanabe K.,
Kumagai A.,
Itakura S.,
Fukuzumi Y.,
Fujimori Y.,
Komiyama M.,
Tashiro H.,
Tanigami A.,
Fujiwara T.,
Ono T.,
Yamada K.,
Fujii Y.,
Ozaki K.,
Hirao M.,
Ohmori Y.,
Kawabata A.,
Hikiji T.,
Kobatake N.,
Inagaki H.,
Ikema Y.,
Okamoto S.,
Okitani R.,
Kawakami T.,
Noguchi S.,
Itoh T.,
Shigeta K.,
Senba T.,
Matsumura K.,
Nakajima Y.,
Mizuno T.,
Morinaga M.,
Sasaki M.,
Togashi T.,
Oyama M.,
Hata H.,
Watanabe M.,
Komatsu T.,
Mizushima-Sugano J.,
Satoh T.,
Shirai Y.,
Takahashi Y.,
Nakagawa K.,
Okumura K.,
Nagase T.,
Nomura N.,
Kikuchi H.,
Masuho Y.,
Yamashita R.,
Nakai K.,
Yada T.,
Nakamura Y.,
Ohara O.,
Isogai T.,
Sugano S.;
"Complete sequencing and characterization of 21,243 full-length human cDNAs.";
Nat. Genet. 36:40-45(2004).
|
[3]
|
NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 2128-2527.
TISSUE=Testis;
The German cDNA consortium;
Submitted (SEP-2004) to the EMBL/GenBank/DDBJ databases.
|
[4]
|
DISEASE.
DOI=10.1093/brain/awh607; PubMed=16081470 [NCBI, ExPASy, EBI, Israel, Japan]
Adams J.R.,
van Netten H.,
Schulzer M.,
Mak E.,
McKenzie J.,
Strongosky A.,
Sossi V.,
Ruth T.J.,
Lee C.S.,
Farrer M.,
Gasser T.,
Uitti R.J.,
Calne D.B.,
Wszolek Z.K.,
Stoessl A.J.;
"PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation.";
Brain 128:2777-2785(2005).
|
[5]
|
SUBCELLULAR LOCATION, AND CHARACTERIZATION OF VARIANT PARK8 THR-2020.
DOI=10.1093/hmg/ddi439; PubMed=16321986 [NCBI, ExPASy, EBI, Israel, Japan]
Gloeckner C.J.,
Kinkl N.,
Schumacher A.,
Braun R.J.,
O'Neill E.,
Meitinger T.,
Kolch W.,
Prokisch H.,
Ueffing M.;
"The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity.";
Hum. Mol. Genet. 15:223-232(2006).
|
[6]
|
DISEASE.
DOI=10.1016/j.mad.2005.06.010; PubMed=16087219 [NCBI, ExPASy, EBI, Israel, Japan]
Toft M.,
Sando S.B.,
Melquist S.,
Ross O.A.,
White L.R.,
Aasly J.O.,
Farrer M.J.;
"LRRK2 mutations are not common in Alzheimer's disease.";
Mech. Ageing Dev. 126:1201-1205(2005).
|
[7]
|
SUBCELLULAR LOCATION, AND CHARACTERIZATION OF VARIANTS PD CYS-1441 AND SER-2019.
DOI=10.1073/pnas.0507360102; PubMed=16269541 [NCBI, ExPASy, EBI, Israel, Japan]
West A.B.,
Moore D.J.,
Biskup S.,
Bugayenko A.,
Smith W.W.,
Ross C.A.,
Dawson V.L.,
Dawson T.M.;
"Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity.";
Proc. Natl. Acad. Sci. U.S.A. 102:16842-16847(2005).
|
[8]
|
SUBCELLULAR LOCATION, INTERACTION WITH PARK2, AND POSSIBLE FUNCTION.
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).
|
[9]
|
TISSUE SPECIFICITY.
DOI=10.1002/ana.20808; PubMed=16532471 [NCBI, ExPASy, EBI, Israel, Japan]
Galter D.,
Westerlund M.,
Carmine A.,
Lindqvist E.,
Sydow O.,
Olson L.;
"LRRK2 expression linked to dopamine-innervated areas.";
Ann. Neurol. 59:714-719(2006).
|
[10]
|
VARIANTS PARK8 GLY-1441 AND CYS-1699, AND TISSUE SPECIFICITY.
DOI=10.1016/j.neuron.2004.10.023; PubMed=15541308 [NCBI, ExPASy, EBI, Israel, Japan]
Paisan-Ruiz C.,
Jain S.,
Evans E.W.,
Gilks W.P.,
Simon J.,
van der Brug M.,
Lopez de Munain A.,
Aparicio S.,
Gil A.M.,
Khan N.L.,
Johnson J.,
Martinez J.R.,
Nicholl D.,
Carrera I.M.,
Pena A.S.,
de Silva R.,
Lees A.J.,
Marti-Masso J.F.,
Perez-Tur J., ![]()
Wood N.W.,
Singleton A.B.;
"Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease.";
Neuron 44:595-600(2004).
|
[11]
|
VARIANT PARK8/PD SER-2019.
DOI=10.1086/429256; PubMed=15726496 [NCBI, ExPASy, EBI, Israel, Japan]
Kachergus J.M.,
Mata I.F.,
Hulihan M.,
Taylor J.P.,
Lincoln S.,
Aasly J.O.,
Gibson J.M.,
Ross O.A.,
Lynch T.,
Wiley J.,
Payami H.,
Nutt J.,
Maraganore D.M.,
Czyzewski K.,
Styczynska M.,
Wszolek Z.K.,
Farrer M.J.,
Toft M.;
"Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations.";
Am. J. Hum. Genet. 76:672-680(2005).
|
[12]
|
VARIANT PARK8 SER-2019.
DOI=10.1002/ana.20401; PubMed=15732108 [NCBI, ExPASy, EBI, Israel, Japan]
Hernandez D.G.,
Paisan-Ruiz C.,
McInerney-Leo A.,
Jain S.,
Meyer-Lindenberg A.,
Evans E.W.,
Berman K.F.,
Johnson J.,
Auburger G.,
Schaeffer A.A.,
Lopez G.J.,
Nussbaum R.L.,
Singleton A.B.;
"Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.";
Ann. Neurol. 57:453-456(2005).
|
[13]
|
VARIANT PARK8/PD SER-2019.
DOI=10.1002/ana.20456; PubMed=15852371 [NCBI, ExPASy, EBI, Israel, Japan]
Aasly J.O.,
Toft M.,
Fernandez-Mata I.,
Kachergus J.M.,
Hulihan M.,
White L.R.,
Farrer M.J.;
"Clinical features of LRRK2-associated Parkinson's disease in central Norway.";
Ann. Neurol. 57:762-765(2005).
|
[14]
|
VARIANT PARK8 SER-2019.
DOI=10.1002/ana.20636; PubMed=16240353 [NCBI, ExPASy, EBI, Israel, Japan]
French Parkinson's disease genetics study group;
Lesage S.,
Ibanez P.,
Lohmann E.,
Pollak P.,
Tison F.,
Tazir M.,
Leutenegger A.-L.,
Guimaraes J.,
Bonnet A.-M.,
Agid Y.,
Duerr A.,
Brice A.;
"G2019S LRRK2 mutation in French and North African families with Parkinson's disease.";
Ann. Neurol. 58:784-787(2005).
|
[15]
|
VARIANT PARK8 THR-2020.
DOI=10.1002/ana.20484; PubMed=15880653 [NCBI, ExPASy, EBI, Israel, Japan]
Funayama M.,
Hasegawa K.,
Ohta E.,
Kawashima N.,
Komiyama M.,
Kowa H.,
Tsuji S.,
Obata F.;
"An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family.";
Ann. Neurol. 57:918-921(2005).
|
[16]
|
VARIANT PD SER-2019.
DOI=10.1002/ana.20510; PubMed=15929036 [NCBI, ExPASy, EBI, Israel, Japan]
Deng H.,
Le W.,
Guo Y.,
Hunter C.B.,
Xie W.,
Jankovic J.;
"Genetic and clinical identification of Parkinson's disease patients with LRRK2 G2019S mutation.";
Ann. Neurol. 57:933-934(2005).
|
[17]
|
VARIANTS PARK8 MET-793; ARG-930; CYS-1096 THR-1228; SER-2019 AND THR-2020, AND VARIANT LYS-551.
DOI=10.1093/brain/awh666; PubMed=16251215 [NCBI, ExPASy, EBI, Israel, Japan]
Berg D.,
Schweitzer K.,
Leitner P.,
Zimprich A.,
Lichtner P.,
Belcredi P.,
Bruessel T.,
Schulte C.,
Maass S.,
Naegele T.;
"Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease.";
Brain 128:3000-3011(2005).
|
[18]
|
VARIANTS PARK8 CYS-1699; HIS-1941; SER-2019 AND ILE-2356.
DOI=10.1093/brain/awh667; PubMed=16272164 [NCBI, ExPASy, EBI, Israel, Japan]
Khan N.L.,
Jain S.,
Lynch J.M.,
Pavese N.,
Abou-Sleiman P.M.,
Holton J.L.,
Healy D.G.,
Gilks W.P.,
Sweeney M.G.,
Ganguly M.,
Gibbons V.,
Gandhi S.,
Vaughan J.,
Eunson L.H.,
Katzenschlager R.,
Gayton J.,
Lennox G.,
Revesz T.,
Nicholl D., ![]()
Bhatia K.P.,
Quinn N.,
Brooks D.,
Lees A.J.,
Davis M.B.,
Piccini P.,
Singleton A.B.,
Wood N.W.;
"Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data.";
Brain 128:2786-2796(2005).
|
[19]
|
VARIANTS PD VAL-1371; CYS-1441 AND SER-2019.
DOI=10.1038/sj.ejhg.5201539; PubMed=16333314 [NCBI, ExPASy, EBI, Israel, Japan]
Di Fonzo A.,
Tassorelli C.,
De Mari M.,
Chien H.F.,
Ferreira J.,
Rohe C.F.,
Riboldazzi G.,
Antonini A.,
Albani G.,
Mauro A.,
Marconi R.,
Abbruzzese G.,
Lopiano L.,
Fincati E.,
Guidi M.,
Marini P.,
Stocchi F.,
Onofrj M.,
Toni V., ![]()
Tinazzi M.,
Fabbrini G.,
Lamberti P.,
Vanacore N.,
Meco G.,
Leitner P.,
Uitti R.J.,
Wszolek Z.K.,
Gasser T.,
Simons E.J.,
Breedveld G.J.,
Goldwurm S.,
Pezzoli G.,
Sampaio C.,
Barbosa E.,
Martignoni E.,
Oostra B.A.,
Bonifati V.;
"Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease.";
Eur. J. Hum. Genet. 14:322-331(2006).
|
[20]
|
VARIANT PARK8 SER-2019.
DOI=10.1136/jmg.2005.035568; PubMed=16272257 [NCBI, ExPASy, EBI, Israel, Japan]
Goldwurm S.,
Di Fonzo A.,
Simons E.J.,
Rohe C.F.,
Zini M.,
Canesi M.,
Tesei S.,
Zecchinelli A.,
Antonini A.,
Mariani C.,
Meucci N.,
Sacilotto G.,
Sironi F.,
Salani G.,
Ferreira J.,
Chien H.F.,
Fabrizio E.,
Vanacore N.,
Dalla Libera A., ![]()
Stocchi F.,
Diroma C.,
Lamberti P.,
Sampaio C.,
Meco G.,
Barbosa E.,
Bertoli-Avella A.M.,
Breedveld G.J.,
Oostra B.A.,
Pezzoli G.,
Bonifati V.;
"The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor.";
J. Med. Genet. 42:E65-E65(2005).
|
[21]
|
VARIANT PD SER-2019.
DOI=10.1016/S0140-6736(05)17828-3; PubMed=15680455 [NCBI, ExPASy, EBI, Israel, Japan]
The Parkinson study group-PROGENI investigators;
Nichols W.C.,
Pankratz N.,
Hernandez D.,
Paisan-Ruiz C.,
Jain S.,
Halter C.A.,
Michaels V.E.,
Reed T.,
Rudolph A.,
Shults C.W.,
Singleton A.,
Foroud T.;
"Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease.";
Lancet 365:410-412(2005).
|
[22]
|
VARIANT PARK8 SER-2019.
DOI=10.1016/S0140-6736(05)17829-5; PubMed=15680456 [NCBI, ExPASy, EBI, Israel, Japan]
The Italian Parkinson genetics network;
Di Fonzo A.,
Rohe C.F.,
Ferreira J.,
Chien H.F.,
Vacca L.,
Stocchi F.,
Guedes L.,
Fabrizio E.,
Manfredi M.,
Vanacore N.,
Goldwurm S.,
Breedveld G.J.,
Sampaio C.,
Meco G.,
Barbosa E.,
Oostra B.A.,
Bonifati V.;
"A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.";
Lancet 365:412-415(2005).
|
[23]
|
VARIANT PD SER-2019.
DOI=10.1016/S0140-6736(05)17830-1; PubMed=15680457 [NCBI, ExPASy, EBI, Israel, Japan]
Gilks W.P.,
Abou-Sleiman P.M.,
Gandhi S.,
Jain S.,
Singleton A.,
Lees A.J.,
Shaw K.,
Bhatia K.P.,
Bonifati V.,
Quinn N.P.,
Lynch J.M.,
Healy D.G.,
Holton J.L.,
Revesz T.,
Wood N.W.;
"A common LRRK2 mutation in idiopathic Parkinson's disease.";
Lancet 365:415-416(2005).
|
[24]
|
VARIANT PD SER-2019.
DOI=10.1016/S0140-6736(05)74809-1; PubMed=15811454 [NCBI, ExPASy, EBI, Israel, Japan]
Toft M.,
Mata I.F.,
Kachergus J.M.,
Ross O.A.,
Farrer M.J.;
"LRRK2 mutations and Parkinsonism.";
Lancet 365:1229-1230(2005).
|
[25]
|
VARIANT SER-2019.
DOI=10.1002/mds.20618; PubMed=16001413 [NCBI, ExPASy, EBI, Israel, Japan]
Kay D.M.,
Kramer P.,
Higgins D.S.,
Zabetian C.P.,
Payami H.;
"Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutation.";
Mov. Disord. 20:1077-1078(2005).
|
[26]
|
VARIANT PD SER-2019.
DOI=10.1002/mds.20751; PubMed=16250030 [NCBI, ExPASy, EBI, Israel, Japan]
Kay D.M.,
Zabetian C.P.,
Factor S.A.,
Nutt J.G.,
Samii A.,
Griffith A.,
Bird T.D.,
Kramer P.,
Higgins D.S.,
Payami H.;
"Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics.";
Mov. Disord. 21:519-523(2006).
|
[27]
|
VARIANTS PARK8 CYS-1441; GLY-1441; HIS-1441; GLN-1514; SER-1542; GLU-1598; CYS-1699; THR-1869; THR-2012; SER-2019; THR-2020 AND ARG-2385, AND VARIANTS PRO-119; LYS-551; VAL-723; MET-793; VAL-1122; ALA-1262; HIS-1398; PRO-1628; THR-1646; THR-1647; ASP-2081; LEU-2119; ILE-2261 AND THR-2397.
DOI=10.1007/s10048-005-0005-1; PubMed=16172858 [NCBI, ExPASy, EBI, Israel, Japan]
Mata I.F.,
Kachergus J.M.,
Taylor J.P.,
Lincoln S.,
Aasly J.,
Lynch T.,
Hulihan M.M.,
Cobb S.A.,
Wu R.-M.,
Lu C.-S.,
Lahoz C.,
Wszolek Z.K.,
Farrer M.J.;
"Lrrk2 pathogenic substitutions in Parkinson's disease.";
Neurogenetics 6:171-177(2005).
|
[28]
|
VARIANTS PARK8 VAL-1371 AND SER-2019, AND VARIANTS HIS-1398 AND THR-2397.
DOI=10.1212/01.WNL.0000167552.79769.b3; PubMed=16157901 [NCBI, ExPASy, EBI, Israel, Japan]
Paisan-Ruiz C.,
Lang A.E.,
Kawarai T.,
Sato C.,
Salehi-Rad S.,
Fisman G.K.,
Al-Khairallah T.,
St George-Hyslop P.H.,
Singleton A.,
Rogaeva E.;
"LRRK2 gene in Parkinson disease: mutation analysis and case control association study.";
Neurology 65:696-700(2005).
|
[29]
|
VARIANT PD GLN-1067.
DOI=10.1212/01.wnl.0000180517.70572.37; PubMed=16247070 [NCBI, ExPASy, EBI, Israel, Japan]
Skipper L.,
Shen H.,
Chua E.,
Bonnard C.,
Kolatkar P.,
Tan L.C.S.,
Jamora R.D.,
Puvan K.,
Puong K.Y.,
Zhao Y.,
Pavanni R.,
Wong M.C.,
Yuen Y.,
Farrer M.,
Liu J.J.,
Tan E.K.;
"Analysis of LRRK2 functional domains in nondominant Parkinson disease.";
Neurology 65:1319-1321(2005).
|
[30]
|
VARIANTS PD MET-793; THR-1869 AND SER-2019.
DOI=10.1212/01.WNL.0000169023.51764.b0; PubMed=16157908 [NCBI, ExPASy, EBI, Israel, Japan]
Farrer M.,
Stone J.,
Mata I.F.,
Lincoln S.,
Kachergus J.,
Hulihan M.,
Strain K.J.,
Maraganore D.M.;
"LRRK2 mutations in Parkinson disease.";
Neurology 65:738-740(2005).
|
[31]
|
VARIANTS PD CYS-1441; HIS-1441 AND SER-2019.
DOI=10.1212/01.WNL.0000172630.22804.73; PubMed=16157909 [NCBI, ExPASy, EBI, Israel, Japan]
Zabetian C.P.,
Samii A.,
Mosley A.D.,
Roberts J.W.,
Leis B.C.,
Yearout D.,
Raskind W.H.,
Griffith A.;
"A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations.";
Neurology 65:741-744(2005).
|
[32]
|
VARIANT PD GLY-1441.
DOI=10.1016/j.neulet.2005.03.033; PubMed=15925109 [NCBI, ExPASy, EBI, Israel, Japan]
Mata I.F.,
Taylor J.P.,
Kachergus J.,
Hulihan M.,
Huerta C.,
Lahoz C.,
Blazquez M.,
Guisasola L.M.,
Salvador C.,
Ribacoba R.,
Martinez C.,
Farrer M.,
Alvarez V.;
"LRRK2 R1441G in Spanish patients with Parkinson's disease.";
Neurosci. Lett. 382:309-311(2005).
|
[33]
|
VARIANT PARK8/PD SER-2019.
DOI=10.1016/j.neulet.2005.10.083; PubMed=16298482 [NCBI, ExPASy, EBI, Israel, Japan]
Infante J.,
Rodriguez E.,
Combarros O.,
Mateo I.,
Fontalba A.,
Pascual J.,
Oterino A.,
Polo J.M.,
Leno C.,
Berciano J.;
"LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease.";
Neurosci. Lett. 395:224-226(2006).
|
[34]
|
VARIANT PD SER-2019.
DOI=10.1016/j.parkreldis.2005.05.004; PubMed=16102999 [NCBI, ExPASy, EBI, Israel, Japan]
Gosal D.,
Ross O.A.,
Wiley J.,
Irvine G.B.,
Johnston J.A.,
Toft M.,
Mata I.F.,
Kachergus J.,
Hulihan M.,
Taylor J.P.,
Lincoln S.J.,
Farrer M.J.,
Lynch T.,
Mark Gibson J.;
"Clinical traits of LRRK2-associated Parkinson's disease in Ireland: a link between familial and idiopathic PD.";
Parkinsonism Relat. Disord. 11:349-352(2005).
|
[35]
|
VARIANTS PD CYS-1441; GLY-1441 AND SER-2019.
DOI=10.1001/archneur.63.3.377; PubMed=16533964 [NCBI, ExPASy, EBI, Israel, Japan]
Gaig C.,
Ezquerra M.,
Marti M.J.,
Munoz E.,
Valldeoriola F.,
Tolosa E.;
"LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance.";
Arch. Neurol. 63:377-382(2006).
|
[36]
|
VARIANTS [LARGE SCALE ANALYSIS] PRO-119; VAL-419; LYS-551; VAL-723; HIS-1398; GLN-1514; SER-1542; GLN-1550 AND PRO-1723.
DOI=10.1038/nature05610; PubMed=17344846 [NCBI, ExPASy, EBI, Israel, Japan]
Greenman C.,
Stephens P.,
Smith R.,
Dalgliesh G.L.,
Hunter C.,
Bignell G.,
Davies H.,
Teague J.,
Butler A.,
Stevens C.,
Edkins S.,
O'Meara S.,
Vastrik I.,
Schmidt E.E.,
Avis T.,
Barthorpe S.,
Bhamra G.,
Buck G.,
Choudhury B., ![]()
Clements J.,
Cole J.,
Dicks E.,
Forbes S.,
Gray K.,
Halliday K.,
Harrison R.,
Hills K.,
Hinton J.,
Jenkinson A.,
Jones D.,
Menzies A.,
Mironenko T.,
Perry J.,
Raine K.,
Richardson D.,
Shepherd R.,
Small A.,
Tofts C.,
Varian J.,
Webb T.,
West S.,
Widaa S.,
Yates A.,
Cahill D.P.,
Louis D.N.,
Goldstraw P.,
Nicholson A.G.,
Brasseur F.,
Looijenga L.,
Weber B.L.,
Chiew Y.-E.,
DeFazio A.,
Greaves M.F.,
Green A.R.,
Campbell P.,
Birney E.,
Easton D.F.,
Chenevix-Trench G.,
Tan M.-H.,
Khoo S.K.,
Teh B.T.,
Yuen S.T.,
Leung S.Y.,
Wooster R.,
Futreal P.A.,
Stratton M.R.;
"Patterns of somatic mutation in human cancer genomes.";
Nature 446:153-158(2007).
|
|
ExPASy Home page
