ATP6AP1 deficiency causes an immunodeficiency with hepatopathy, cognitive impairment and abnormal protein glycosylation

Nature Communications

Volumn 7, Issue , 2016, Pages

  Jansen, Eric J R ^a   Timal, Sharita ^a,b   Ryan, Margret ^c   Ashikov, Angel ^a,b   Van Scherpenzeel, Monique ^a,b   Graham, Laurie A ^c   Mandel, Hanna ^d   Hoischen, Alexander ^a   Iancu, Theodore C ^e   Raymond, Kimiyo ^f   Steenbergen, Gerry ^a   Gilissen, Christian ^a   Huijben, Karin ^a   Van Bakel, Nick H M ^a   Maeda, Yusuke ^g   Rodenburg, Richard J ^a,h   Adamowicz, Maciej ⁱ   Crushell, Ellen ^j   Koenen, Hans ^h   Adams, Darius ^k   Vodopiutz, Julia ^l   Greber Platzer, Susanne ^l   Müller, Thomas ^m   Dueckers, Gregor ⁿ   Morava, Eva ^h,o,p   Sykut Cegielska, Jolanta ^q   Martens, Gerard J M ^a   Wevers, Ron A ^a   Niehues, Tim ⁿ   Huynen, Martijn A ^a   Veltman, Joris A ^a,r   Stevens, Tom H ^c   Lefeber, Dirk J ^a,b   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b RADBOUD UNIVERSITY   (Netherlands)

^c UNIVERSITY OF OREGON   (United States)

^d TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^e Milman David Biomedical Research Unit   (Israel)

^f Mayo Clinic   (United States)

^g OSAKA UNIVERSITY   (Japan)

^h RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

ⁱ CHILDREN'S MEMORIAL HEALTH INSTITUTE   (Poland)

^j CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^k Goryeb Children's Hospital   (United States)

^l MEDICAL UNIVERSITY OF VIENNA   (Austria)

^m INNSBRUCK MEDICAL UNIVERSITY   (Austria)

ⁿ Children's Hospital   (Germany)

^o TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^p Department of Pediatrics   (Belgium)

^q INSTITUTE OF MOTHER AND CHILD   (Poland)

^r MAASTRICHT UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; ATP6AP1 PROTEIN; CREATINE KINASE; PROTEIN; UNCLASSIFIED DRUG; ATP6AP1 PROTEIN, HUMAN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

ABNORMALITY; BRAIN; CELLS AND CELL COMPONENTS; GENE; GENE EXPRESSION; IMMUNE RESPONSE; MUTATION; PHENOTYPE; PROTEIN; YEAST;

ADOLESCENT; ADULT; AMINOTRANSFERASE BLOOD LEVEL; ARTICLE; AUTOPHAGY; CARBOXY TERMINAL SEQUENCE; CELLULAR DISTRIBUTION; CHILD; CLINICAL ARTICLE; COGNITION; COGNITIVE DEFECT; CREATINE KINASE BLOOD LEVEL; DISEASE COURSE; ENDOPLASMIC RETICULUM MEMBRANE; EXOME; GENE DUPLICATION; GLYCOSYLATION; HETEROZYGOSITY; HISTOLOGY; HUMAN; IMMUNE DEFICIENCY; IMMUNOGLOBULIN PRODUCTION; LIVER BIOPSY; LIVER DISEASE; MALE; MEMORY CELL; MISSENSE MUTATION; MOLECULAR WEIGHT; PHENOTYPE; PROTEIN EXPRESSION; PROTEIN GLYCOSYLATION; RECESSIVE INHERITANCE; SCHOOL CHILD; SMOOTH ENDOPLASMIC RETICULUM; WILD TYPE; YOUNG ADULT; AMINO ACID SEQUENCE; DEFICIENCY; FAMILY HEALTH; GENETICS; INFANT; METABOLISM; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; SEQUENCE HOMOLOGY;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; COGNITIVE DYSFUNCTION; FAMILY HEALTH; GLYCOSYLATION; HUMANS; IMMUNOLOGIC DEFICIENCY SYNDROMES; INFANT; LIVER DISEASES; MALE; MUTATION, MISSENSE; SEQUENCE HOMOLOGY, AMINO ACID; VACUOLAR PROTON-TRANSLOCATING ATPASES; YOUNG ADULT;

EID: 84971238702     PISSN: None     EISSN: 20411723     Source Type: Journal    
DOI: 10.1038/ncomms11600     Document Type: Article

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