UBIAD1 mutation alters a mitochondrial prenyltransferase to cause schnyder corneal dystrophy

PLoS ONE

Volumn 5, Issue 5, 2010, Pages

  Nickerson, Michael L ^a,b,c   Kostiha, Brittany N ^a,d   Brandt, Wolfgang ^e   Fredericks, William ^f   Xu, Ke Ping ^g   Yu, Fu Shin ^g   Gold, Bert ^a   Chodosh, James ^h   Goldberg, Marc ⁱ   Lu, Da Wen ^j   Yamada, Masakazu ^k   Tervo, Timo M ^l   Grutzmacher, Richard ^m   Croasdale, Chris ⁿ   Hoeltzenbein, Maria ^o   Sutphin, John ^p   Malkowicz, S Bruce ^f   Wessjohann, Ludger ^e   Kruth, Howard S ^q   Dean, Michael ^a   Weiss, Jayne S ^g   more..

^a NATIONAL CANCER INSTITUTE   (United States)

^b NATIONAL INSTITUTES OF HEALTH   (United States)

^c GEORGE WASHINGTON UNIVERSITY   (United States)

^d HOOD COLLEGE   (United States)

^e LEIBNIZ INSTITUTE OF PLANT BIOCHEMISTRY   (Germany)

^f VETERANS AFFAIRS MEDICAL CENTER   (United States)

^g WAYNE STATE UNIVERSITY   (United States)

^h HARVARD MEDICAL SCHOOL   (United States)

ⁱ The Eye Institute   (United States)

^j TRI SERVICE GENERAL HOSPITAL   (Taiwan)

^k NATIONAL HOSPITAL ORGANIZATION TOKYO MEDICAL CENTER   (Japan)

^l HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^m Grutzmacher and Lewis Inc   (United States)

ⁿ UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^o MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^p UNIVERSITY OF KANSAS MEDICAL CENTER   (United States)

^q NATIONAL HEART LUNG AND BLOOD INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CHOLESTEROL; DIMETHYLALLYLTRANSFERASE; MEMBRANE PROTEIN; MUTANT PROTEIN; PHENOL; PRENYLAMINE; PROTEIN C; UBIA PRENYL TRANSFERASE DOMAIN CONTAINING PROTEIN 1; UNCLASSIFIED DRUG; AMINO ACID; PROTEIN; TERE1 PROTEIN, HUMAN;

ADULT; AGED; AMERICAN INDIAN; ANTIBODY SPECIFICITY; ARTICLE; BINDING SITE; CELL IMMORTALIZATION; CELLULAR DISTRIBUTION; CHOLESTEROL METABOLISM; CONTROLLED STUDY; CORNEA CELL; CORNEA DYSTROPHY; CORNEA TRANSPLANTATION; DISEASE MARKER; DOWN REGULATION; EPSTEIN BARR VIRUS; ETHNICITY; GENE LOCATION; GENE MUTATION; GENETIC CONSERVATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HUMAN CELL; HUMAN VERSUS ANIMAL COMPARISON; IMMUNOHISTOCHEMISTRY; LYMPHOBLASTOID CELL LINE; MALE; METABOLITE; MITOCHONDRIAL GENE; MOLECULAR DOCKING; MOLECULAR MODEL; NUCLEOTIDE SEQUENCE; PERIPHERAL BLOOD MONONUCLEAR CELL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN STRUCTURE; SCHNYDER CORNEAL DYSTROPHY; SEQUENCE HOMOLOGY; STEROL ANALYSIS; WILD TYPE; AMINO ACID SEQUENCE; CHEMICAL STRUCTURE; CHEMISTRY; CONGENITAL CORNEA DYSTROPHY; CORNEA; DEMOGRAPHY; ENZYMOLOGY; FAMILY; GENETICS; METABOLISM; MITOCHONDRION; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PROTEIN TRANSPORT; STATISTICAL MODEL;

HUMAN HERPESVIRUS 4;

AMINO ACID SEQUENCE; AMINO ACIDS; BASE SEQUENCE; CHOLESTEROL; CONSERVED SEQUENCE; CORNEA; CORNEAL DYSTROPHIES, HEREDITARY; DEMOGRAPHY; DIMETHYLALLYLTRANSTRANSFERASE; DNA MUTATIONAL ANALYSIS; FAMILY; HUMANS; LINEAR MODELS; MITOCHONDRIA; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTANT PROTEINS; MUTATION; PROTEIN TRANSPORT; PROTEINS;

EID: 77956295727     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0010760     Document Type: Article

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