CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

American Journal of Human Genetics

Volumn 98, Issue 2, 2016, Pages 310-321

  Jansen, Jos C ^a,b   Cirak, Sebahattin ^c   Van Scherpenzeel, Monique ^b,d   Timal, Sharita ^b,d   Reunert, Janine ^e   Rust, Stephan ^e   Pérez, Belén ^f   Vicogne, Dorothée ^g   Krawitz, Peter ^h   Wada, Yoshinao ⁱ   Ashikov, Angel ^b,d   Pérez Cerdá, Celia ^f   Medrano, Celia ^f   Arnoldy, Andrea ^j   Hoischen, Alexander ^a   Huijben, Karin ^b   Steenbergen, Gerry ^b   Quelhas, Dulce ^k   Diogo, Luisa ^l   Rymen, Daisy ^m   Jaeken, Jaak ^m   Guffon, Nathalie ⁿ   Cheillan, David ⁿ   Van Den Heuvel, Lambertus P ^a,b   Maeda, Yusuke ^o   Kaiser, Olaf ^p   Schara, Ulrike ^p   Gerner, Patrick ^q   Van Den Boogert, Marjolein A W ^r   Holleboom, Adriaan G ^r   Nassogne, Marie Cécile ^s   Sokal, Etienne ^s   Salomon, Jody ^a   Van Den Bogaart, Geert ^a   Drenth, Joost P H ^a   Huynen, Martijn A ^a   Veltman, Joris A ^a,t   Wevers, Ron A ^b   Morava, Eva ^m,u   Matthijs, Gert ^m   Foulquier, François ^g   Marquardt, Thorsten ^e   Lefeber, Dirk J ^b,d   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^c UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^d RADBOUD UNIVERSITY   (Netherlands)

^e UNIVERSITY OF MÜNSTER   (Germany)

^f UNIVERSIDAD AUTÓNOMA DE MADRID   (Spain)

^g UNIV LILLE   (France)

^h Institute for Medical Genetics   (Germany)

ⁱ RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^j UNIVERSITY OF DUISBURG ESSEN   (Germany)

^k University of Leuven ^*  (Portugal)

^l CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^m UNIVERSITY OF LEUVEN   (Belgium)

ⁿ HOSPICES CIVILS DE LYON   (France)

^o OSAKA UNIVERSITY   (Japan)

^p UNIVERSITY HOSPITAL ESSEN   (Germany)

^q UNIVERSITY OF FREIBURG   (Germany)

^r ACADEMIC MEDICAL CENTER   (Netherlands)

^s CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

^t MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

^u TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

more..

Author keywords

alkaline phosphatase; glycosylation; Golgi homeostasis; hepatosplenomegaly; V ATPase assembly; Vma22p

Indexed keywords

ADENOSINE TRIPHOSPHATASE; ALKALINE PHOSPHATASE; AMINOTRANSFERASE; BLOOD CLOTTING FACTOR; CERULOPLASMIN; CHOLESTEROL; COMPLEMENTARY DNA; CREATINE KINASE; PLASMA PROTEIN; SIALIC ACID DERIVATIVE; NERVE PROTEIN;

ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CCDC115 GENE; CERULOPLASMIN BLOOD LEVEL; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; COPPER METABOLISM; DISORDER OF GOLGI HOMEOSTASIS; ENDOPLASMIC RETICULUM; FEMALE; GENE; GENE DELETION; GENE FUNCTION; GENETIC SCREENING; GLYCOSYLATION; GOLGI COMPLEX; HEPATOSPLENOMEGALY; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERCHOLESTEROLEMIA; LIVER FAILURE; LIVER TRANSPLANTATION; LYSOSOME STORAGE DISEASE; MALE; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN GLYCOSYLATION; SKIN FIBROBLAST; AMINO ACID SEQUENCE; CHILD; CYTOLOGY; DEFICIENCY; EXOME; FIBROBLAST; GENETICS; HELA CELL LINE; HETEROZYGOTE; HOMEOSTASIS; INFANT; MATRIX-ASSISTED LASER DESORPTION-IONIZATION MASS SPECTROMETRY; METABOLISM; MOLECULAR CLONING; MOLECULAR GENETICS; PEDIGREE; PHENOTYPE; PRESCHOOL CHILD;

AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; CLONING, MOLECULAR; ENDOPLASMIC RETICULUM; EXOME; FEMALE; FIBROBLASTS; GLYCOSYLATION; GOLGI APPARATUS; HELA CELLS; HETEROZYGOTE; HOMEOSTASIS; HUMANS; INFANT; MALE; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; PEDIGREE; PHENOTYPE; SPECTROMETRY, MASS, MATRIX-ASSISTED LASER DESORPTION-IONIZATION;

EID: 84957809249     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.12.010     Document Type: Article

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