Mutation in the α-synuclein gene identified in families with Parkinson's disease

Science

Volumn 276, Issue 5321, 1997, Pages 2045-2047

  Polymeropoulos, Mihael H ^a   Lavedan, Christian ^a   Leroy, Elisabeth ^a   Ide, Susan E ^a   Dehejia, Anindya ^a   Dutra, Amalia ^a   Pike, Brian ^a   Root, Holly ^a   Rubenstein, Jeffrey ^a   Boyer, Rebecca ^a   Stenroos, Edward S ^b   Chandrasekharappa, Settara ^a   Athanassiadou, Aglaia ^d   Papapetropoulos, Theodore ^d   Johnson, William G ^b   Lazzarini, Alice M ^b   Duvoisin, Roger C ^b   Di Iorio, Giuseppe ^c   Golbe, Lawrence I ^b   Nussbaum, Robert L ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b RUTGERS ROBERT WOOD JOHNSON MEDICAL SCHOOL   (United States)

^c Seconda Universita degli Studi di Napoli Facolta di Medicina e Chirurgia   (Italy)

^d UNIVERSITY OF PATRAS   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

SYNUCLEIN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CHROMOSOME 4; GENE MUTATION; GENETIC SUSCEPTIBILITY; PARKINSON DISEASE; PATHOPHYSIOLOGY; PRIORITY JOURNAL;

AGE OF ONSET; ALPHA-SYNUCLEIN; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; GENES, DOMINANT; GENETIC MARKERS; GREECE; HUMANS; ITALY; MALE; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; PARKINSON DISEASE; PEDIGREE; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION; PROTEIN STRUCTURE, SECONDARY; SYNUCLEINS;

EID: 0030744876     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.276.5321.2045     Document Type: Article

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31. Abbreviations for the amino acid residues are: A, Ala; C, Cys; D, Asp; E, Glu; F. Phe; G, Gly; H, His; I, Ile; K, Lys; L, Leu; M, Met; N, Asn; P, Pro; Q, Gln; R, Arg; S, Ser; T, Thr; V, Val; W, Trp; and Y, Try.
32. The authors would like to thank V. V. McKoy and Y. Chen for technical assistance, V. Bonavita for sample collection, Z. Hall for his continuing encouragement and support, the NINDS intramural research program for resources, and F. Collins and H. Varmus for critical review of the manuscript.