Hereditary early-onset Parkinson's disease caused by mutations in PINK1

Science

Volumn 304, Issue 5674, 2004, Pages 1158-1160

  Valente, Eriza Maria ^a   Abou Sleiman, Patrick M ^b   Caputo, Viviana ^a,c   Muqit, Miratul M K ^b,d   Harvey, Kirsten ^e   Gispert, Suzana ^f   Ali, Zeeshan ^f   Del Turco, Domenico ^f   Bentivoglio, Anna Rita ^g   Healy, Daniel G ^b   Albanese, Alberto ^h   Nussbaum, Robert ⁱ   González Maldonado, Rafael ^j   Deller, Thomas ^f   Salvi, Sergio ^a   Cortelli, Pietro ^k   Gilks, William P ^b   Latchman, David S ^d,l   Harvey, Roberk J ^e   Dallapiccola, Bruno ^a,c   Auburger, Georg ^f   Wood, Nicholas W ^b   more..

^a Mendel Institute   (Italy)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e UNIVERSITY OF LONDON   (United Kingdom)

^f GOETHE UNIVERSITY   (Germany)

^g CATHOLIC UNIVERSITY   (Italy)

^h DEPARTMENT OF NEUROSURGERY   (Italy)

ⁱ NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^j HOSPITAL UNIVERSITARIO SAN CECILIO   (Spain)

^k UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^l UNIVERSITY OF LONDON   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CELL CULTURE; CHROMOSOMES; GENETIC ENGINEERING; MUTAGENESIS; STRESSES;

MUTATIONS; PARKINSON DISEASE (PD);

DISEASES;

1,2,3,6 TETRAHYDRO 1 METHYL 4 PHENYLPYRIDINE; ALPHA SYNUCLEIN; COMPLEMENTARY DNA; PESTICIDE; PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE; PROTEIN KINASE; PROTEIN SERINE THREONINE KINASE; PTEN INDUCED KINASE 1; REDUCED NICOTINAMIDE ADENINE DINUCLEOTIDE DEHYDROGENASE (UBIQUINONE); ROTENONE; UNCLASSIFIED DRUG;

MEDICINE;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CONTROLLED STUDY; DEGENERATIVE DISEASE; DOPAMINERGIC NERVE CELL; ENVIRONMENTAL EXPOSURE; FLUORESCENCE ACTIVATED CELL SORTING; GENE LOCUS; GENE MUTATION; HUMAN; HUMAN CELL; MISSENSE MUTATION; MITOCHONDRION; NEUROLOGIC DISEASE; NONHUMAN; NONSENSE MUTATION; ONSET AGE; OXIDATIVE STRESS; PARKINSON DISEASE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION;

ANIMALIA;

EID: 2442668926     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.1096284     Document Type: Article

References (18)

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18. We thank the patients and families who participated in this study, J. Sinclair for technical assistance with FACS experiments, G. Howell for bioinformatic support, M. Duchen for useful discussion, S. Eaton for assistance with mitochondrial fractionation, and Y. Nakamura and M. Unoki for the PINK1 plasmid. Supported by grants from Telethon, Italy (E.M.V.); the Italian Ministry of Health (E.M.V. and B.D.); MURST (B.D.); the Parkinson's Disease Society, UX (N.W.W., D.S.L. R.J.H., and D.G.H.); the Brain Research Trust (P.M.A.S. and N.W.W.); and the Deutsche Forschungsgemeinschaft (G.A. and S.G.). M.M.K.M. is a Medical Research Council Clinical Research Training Fellow. GenBank accession numbers are as follows. PINK1 genomic sequence, AL391357; PINK1 mRNAs, AB053323, AF316873, AK075225, BC009534, and BC028215; and PINK1 protein, BAB55647, AAK28062, BAC11484, AAH09534, and AAH28215.