Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

Journal of Experimental Medicine

Volumn 214, Issue 12, 2017, Pages 3707-3729

  Rujano, Maria A ^a,b   Serio, Magda Cannata ^a,b   Panasyuk, Ganna ^c,d   Péanne, Romain ^e   Reunert, Janine ^f   Rymen, Daisy ^e   Hauser, Virginie ^a,d   Park, Julien H ^f   Freisinger, Peter ^g   Souche, Erika ^e   Guida, Maria Clara ^a,d   Maier, Esther M ^h   Wada, Yoshinao ⁱ   Jäger, Stefanie ^j   Krogan, Nevan J ^j   Kretz, Oliver ^k   Nobre, Susana ^l   Garcia, Paula ^l   Quelhas, Dulce ^m   Bird, Thomas D ^n,o   Raskind, Wendy H ⁿ   Schwake, Michael ^p,r   Duvet, Sandrine ^q   Foulquier, Francois ^q   Matthijs, Gert ^e   Marquardt, Thorsten ^f   Simons, Matias ^a,b   more..

^a IMAGINE INSTITUTE   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c INSTITUT NECKER ENFANTS MALADES   (France)

^d CNRS   (France)

^e UNIVERSITY OF LEUVEN   (Belgium)

^f UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^g Kreiskliniken Reutlingen   (Germany)

^h LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

ⁱ RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^j UNIVERSITY OF CALIFORNIA   (United States)

^k UNIVERSITY OF FREIBURG   (Germany)

^l CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^m UNIVERSITY OF PORTO   (Portugal)

ⁿ UNIVERSITY OF WASHINGTON   (United States)

^o VETERANS AFFAIRS MEDICAL CENTER   (United States)

^p BIELEFELD UNIVERSITY   (Germany)

^q UNIV LILLE   (France)

^r NORTHWESTERN UNIVERSITY   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; MAMMALIAN TARGET OF RAPAMYCIN; PLASMA PROTEIN; PROTEIN ATP6AP1; UNCLASSIFIED DRUG; ATP6AP2 PROTEIN, HUMAN; ATP6AP2 PROTEIN, MOUSE; CELL SURFACE RECEPTOR; DROSOPHILA PROTEIN; LIPID; MEMBRANE PROTEIN; PROTEIN BINDING; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATASE; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE; VHAPRR PROTEIN, DROSOPHILA;

ACIDIFICATION; ADOLESCENT; ADULT; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; ATP6AP2 GENE; AUTOPHAGY; CELL VACUOLE; CHILD; CLINICAL ARTICLE; COMPLEX FORMATION; CONTROLLED STUDY; CUTIS LAXA; DROSOPHILA MELANOGASTER; ENZYME ACTIVITY; FAT PAD; GENE; GENETIC DISORDER; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNE DEFICIENCY; IMMUNOHISTOCHEMISTRY; LIPID METABOLISM; LIVER DISEASE; LYSOSOME; MALE; METABOLIC DISORDER; MISSENSE MUTATION; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION; PROTEIN GLYCOSYLATION; PROTEIN PROTEIN INTERACTION; PROTEIN STABILITY; PSYCHOMOTOR DISORDER; SIGNAL TRANSDUCTION; WHOLE EXOME SEQUENCING; X CHROMOSOME; YOUNG ADULT; AMINO ACID SEQUENCE; ANIMAL; BRAIN; CHEMISTRY; COMPLICATION; CYTOLOGY; DEFICIENCY; EMBRYOLOGY; ENDOPLASMIC RETICULUM ASSOCIATED DEGRADATION; FIBROBLAST; GENETICS; GLYCOSYLATION; INFANT; LIVER; METABOLISM; MUTATION; NEURAL STEM CELL; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROTEIN PROCESSING; X CHROMOSOMAL INHERITANCE;

ADOLESCENT; AMINO ACID SEQUENCE; ANIMALS; AUTOPHAGY; BASE SEQUENCE; BLOOD PROTEINS; BRAIN; CUTIS LAXA; DROSOPHILA MELANOGASTER; DROSOPHILA PROTEINS; ENDOPLASMIC RETICULUM-ASSOCIATED DEGRADATION; FIBROBLASTS; GENES, X-LINKED; GLYCOSYLATION; HUMANS; INFANT; LIPIDS; LIVER; LIVER DISEASES; MALE; MEMBRANE PROTEINS; MICE; MUTATION; NEURAL STEM CELLS; PROTEIN BINDING; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTON-TRANSLOCATING ATPASES; PSYCHOMOTOR DISORDERS; RECEPTORS, CELL SURFACE; VACUOLAR PROTON-TRANSLOCATING ATPASES; YOUNG ADULT;

EID: 85036571217     PISSN: 00221007     EISSN: 15409538     Source Type: Journal    
DOI: 10.1084/jem.20170453     Document Type: Article

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