Identification of TMEM230 mutations in familial Parkinson's disease

Nature Genetics

Volumn 48, Issue 7, 2016, Pages 733-739

  Deng, Han Xiang ^a   Shi, Yong ^a   Yang, Yi ^a   Ahmeti, Kreshnik B ^a   Miller, Nimrod ^b   Huang, Cao ^c   Cheng, Lijun ^a   Zhai, Hong ^a   Deng, Sheng ^a,d   Nuytemans, Karen ^e   Corbett, Nicola J ^f   Kim, Myung Jong ^a   Deng, Hao ^g   Tang, Beisha ^d,g   Yang, Ziquang ^a,d   Xu, Yanming ^h   Chan, Piu ⁱ   Huang, Bo ^c   Gao, Xiao Ping ^j   Song, Zhi ^g   Liu, Zhenhua ^d   Fecto, Faisal ^a   Siddique, Nailah ^a   Foroud, Tatiana ^k   Jankovic, Joseph ^l   Ghetti, Bernardino ^k   Nicholson, Daniel A ^f   Krainc, Dimitri ^a   Melen, Onur ^a   Vance, Jeffery M ^e   Pericak Vance, Margaret A ^e   Ma, Yong Chao ^b   Rajput, Ali H ^m   Siddique, Teepu ^a   more..

^a NORTHWESTERN UNIVERSITY   (United States)

^b NORTHWESTERN UNIVERSITY   (United States)

^c THOMAS JEFFERSON UNIVERSITY   (United States)

^d CENTRAL SOUTH UNIVERSITY   (China)

^e UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^f RUSH UNIVERSITY MEDICAL CENTER   (United States)

^g CENTRAL SOUTH UNIVERSITY   (China)

^h SICHUAN UNIVERSITY   (China)

ⁱ CAPITAL MEDICAL UNIVERSITY   (China)

^j Department of Obstetrics and Gynecology   (China)

^k INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^l BAYLOR COLLEGE OF MEDICINE   (United States)

^m SASKATOON HEALTH REGION   (Canada)

more..

Author keywords

[No Author keywords available]

Indexed keywords

DNA; LEVODOPA; MEMBRANE PROTEIN; MESSENGER RNA; NEUROTRANSMITTER TRANSPORTER; SYNAPTOBREVIN 2; SYNAPTOPHYSIN; SYNTAXIN; SYNTAXIN 6; TMEM230 PROTEIN; UNCLASSIFIED DRUG; VESICULAR MONOAMINE TRANSPORTER 2; TMEM230 PROTEIN, HUMAN;

ADULT; AGED; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRAIN SYNAPTOSOME; CELLULAR DISTRIBUTION; CHROMOSOME 20P; CHROMOSOME ARM; CONTROLLED STUDY; DOPAMINERGIC NERVE CELL; EMBRYO; ENDOPLASMIC RETICULUM; EXOCYTOSIS; EXON; FAMILIAL DISEASE; FEMALE; FOUNDER EFFECT; GENE FREQUENCY; GENE IDENTIFICATION; GENE LOCUS; GENE MUTATION; GENETIC CODE; GOLGI COMPLEX; HAPLOTYPE; HETEROZYGOSITY; HOMOZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; LEWY BODY; LINKAGE ANALYSIS; LOD SCORE; MAJOR CLINICAL STUDY; MALE; MESENCEPHALON; MOUSE; NEOCORTEX; NONHUMAN; PARKINSON DISEASE; PENETRANCE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN STRUCTURE; RAT; SECRETORY VESICLE; SEQUENCE HOMOLOGY; STOP CODON; SUBSTANTIA NIGRA; SUBSTANTIA NIGRA PARS COMPACTA; SYNAPSE VESICLE; TRANS GOLGI NETWORK; VERY ELDERLY; AMINO ACID SEQUENCE; CELL CULTURE; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; NERVE CELL; ONSET AGE; PATHOLOGY; PEDIGREE; PROTEIN TRANSPORT;

AGE OF ONSET; AGED; AGED, 80 AND OVER; AMINO ACID SEQUENCE; CELLS, CULTURED; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUTATION; NEURONS; PARKINSON DISEASE; PEDIGREE; PROTEIN TRANSPORT; SEQUENCE HOMOLOGY, AMINO ACID; SYNAPTIC VESICLES;

EID: 84976285813     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3589     Document Type: Article

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