TMEM199 Deficiency is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

American Journal of Human Genetics

Volumn 98, Issue 2, 2016, Pages 322-330

  Jansen, Jos C ^a   Timal, Sharita ^a,b   Van Scherpenzeel, Monique ^a,b   Michelakakis, Helen ^c   Vicogne, Dorothée ^d   Ashikov, Angel ^a,b   Moraitou, Marina ^c   Hoischen, Alexander ^a   Huijben, Karin ^a   Steenbergen, Gerry ^a   Van Den Boogert, Marjolein A W ^e   Porta, Francesco ^f   Calvo, Pier Luigi ^f   Mavrikou, Mersyni ^g   Cenacchi, Giovanna ^h   Van Den Bogaart, Geert ^a   Salomon, Jody ^a   Holleboom, Adriaan G ^e   Rodenburg, Richard J ^a   Drenth, Joost P H ^a   Huynen, Martijn A ^a   Wevers, Ron A ^a   Morava, Eva ^i,j   Foulquier, François ^d   Veltman, Joris A ^a,k   Lefeber, Dirk J ^a,b   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY   (Netherlands)

^c Institute of Child Health   (Greece)

^d UNIV LILLE   (France)

^e ACADEMIC MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF TURIN   (Italy)

^g P AND A KYRIAKOU CHILDREN S HOSPITAL   (Greece)

^h UNIVERSITY OF BOLOGNA   (Italy)

ⁱ UNIVERSITY OF LEUVEN   (Belgium)

^j TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^k MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

alkaline phosphatase; Congenital Disorders of Glycosylation; COPI vesicular transport; elevated aminotransferases; Golgi homeostasis; hypercholesterolemia; TMEM199 deficiency; V ATPase assembly; Vph2p

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ALKALINE PHOSPHATASE; AMINOTRANSFERASE; CERULOPLASMIN; CHOLESTEROL; COMPLEMENTARY DNA; GALACTOSE; LOW DENSITY LIPOPROTEIN CHOLESTEROL; MEMBRANE PROTEIN; SIALIC ACID; TRANSMEMBRANE PROTEIN 199; UNCLASSIFIED DRUG;

ALKALINE PHOSPHATASE BLOOD LEVEL; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; CERULOPLASMIN BLOOD LEVEL; CONCENTRATION (PARAMETERS); CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; ELECTRON MICROSCOPY; ENDOPLASMIC RETICULUM; EXOME; FATTY LIVER; FEMALE; FIBROBLAST; GENE; GENE FREQUENCY; GENE MUTATION; GENE STRUCTURE; GENETIC CONSERVATION; GENETIC TRANSDUCTION; GENETIC VARIABILITY; GENOMICS; GENOTYPE; GLYCOSYLATION; GOLGI COMPLEX; HELA CELL LINE; HOMEOSTASIS; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERCHOLESTEROLEMIA; LIVER BIOPSY; LIVER STRUCTURE; MASS SPECTROMETRY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN LOCALIZATION; SEQUENCE ANALYSIS; TMEM199 GENE; TRANSMEMBRANE PROTEIN 199 DEFICIENCY; WILD TYPE; ADULT; AMINO ACID SEQUENCE; DEFICIENCY; GENETICS; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; YOUNG ADULT;

ADULT; ALKALINE PHOSPHATASE; AMINO ACID SEQUENCE; CERULOPLASMIN; CHOLESTEROL; ENDOPLASMIC RETICULUM; EXOME; FIBROBLASTS; GENOTYPE; GLYCOSYLATION; GOLGI APPARATUS; HOMEOSTASIS; HUMANS; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION; PHENOTYPE; TRANSAMINASES; YOUNG ADULT;

EID: 84957824942     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.12.011     Document Type: Article

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