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Paper Details

Mutations in the X-linked <i>ATP6AP2</i> cause a glycosylation disorder with autophagic defects.
J Exp Med
57
2017
ATP6AP1, ATP6AP2, ATP6AP2 deficiency, Drosophila, V-ATPase, V0 assembly complex, X-linked ATP6AP2, [pro]renin receptor, autophagic defects, cutis laxa, glycosylation disorder, hypoglycosylation of serum, immunodeficiency, liver disease, mTOR, mammalian target, mouse, multi-subunit vacuolar-type H+-ATPase, psychomotor impairment, rapamycin
Adolescent, Amino Acid Sequence, Animals, Autophagy, Base Sequence, Blood Proteins, Brain, Cutis Laxa, Drosophila Proteins, Drosophila melanogaster, 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
Author NameAffiliation
Maria A RujanoImagine Institute
Maria A RujanoUniversite Paris Descartes-Sorbonne Paris Cite, Imagine Institute
Magda Cannata SerioImagine Institute
Magda Cannata SerioUniversite Paris Descartes-Sorbonne Paris Cite, Imagine Institute
Ganna PanasyukInstitut Necker-Enfants Malades
Ganna PanasyukInstitut National de la Sante et de la Recherche Medicale U1/Centre National de la Recherche Scientifique UMR 8253
Romain P??anneUniversity of Leuven (KU Leuven), Center for Human Genetics
Janine ReunertUniversitatsklinikum Munster
Daisy RymenUniversity of Leuven (KU Leuven), Center for Human Genetics
Virginie HauserImagine Institute
Virginie HauserInstitut National de la Sante et de la Recherche Medicale U1/Centre National de la Recherche Scientifique UMR 8253
Julien H ParkUniversitatsklinikum Munster
Peter Freisinger
Erika SoucheUniversity of Leuven (KU Leuven), Center for Human Genetics
Maria Clara GuidaImagine Institute
Maria Clara GuidaInstitut National de la Sante et de la Recherche Medicale U1/Centre National de la Recherche Scientifique UMR 8253
Esther M MaierDr. von Haunersches Kinderspital der Universitat Munchen
Yoshinao WadaOsaka Medical Center and Research Institute for Maternal and Child Health
Stefanie J??gerUniversity of California san francisco
Nevan J Krogan (CM4AI)University of California san francisco
Oliver KretzUniversity of Freiburg
Susana NobreCoimbra University Hospital Center
Paula GarciaCoimbra University Hospital Center
Dulce QuelhasCentro Hospitalar do Porto, Abel Salazar Institute of Biomedical Sciences, University of Porto
Thomas D BirdUniversity of Washington
Thomas D BirdGeriatric Research Center, Veterans Administration Medical Center
Wendy H RaskindUniversity of Washington
Michael SchwakeUniversity Bielefeld
Sandrine DuvetUniversite Lille
Fran??ois FoulquierUniversite Lille
Fran??ois FoulquierUniversite Lille
Gert MatthijsUniversity of Leuven (KU Leuven), Center for Human Genetics
Gert MatthijsUniversity of Leuven (KU Leuven), Center for Human Genetics
Thorsten MarquardtUniversitatsklinikum Munster
Matias SimonsImagine Institute
Matias SimonsUniversite Paris Descartes-Sorbonne Paris Cite, Imagine Institute
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