المؤلفون: Omelková M; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK., Fenger CD; Department of Epilepsy Genetics, Filadelfia Danish Epilepsy Centre, Dianalund 4293, Denmark.; Amplexa Genetics A/S, Odense 5000, Denmark., Murray M; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK., Hammer TB; Department of Epilepsy Genetics, Filadelfia Danish Epilepsy Centre, Dianalund 4293, Denmark., Pravata VM; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK., Bartual SG; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK.; Department of Molecular Biology and Genetics, Aarhus University, Aarhus 8000, Denmark., Czajewski I; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK., Bayat A; Department of Epilepsy Genetics, Filadelfia Danish Epilepsy Centre, Dianalund 4293, Denmark., Ferenbach AT; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK.; Department of Molecular Biology and Genetics, Aarhus University, Aarhus 8000, Denmark., Stavridis MP; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK., van Aalten DMF; Division of Molecular, Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee DD1 5EH, UK.; Institute of Molecular Precision Medicine, Xiangya Hospital, Central South University, Changsha 410008, China.; Department of Molecular Biology and Genetics, Aarhus University, Aarhus 8000, Denmark.

المصدر: Disease models & mechanisms [Dis Model Mech] 2023 Jun 01; Vol. 16 (6). Date of Electronic Publication: 2023 Jun 19.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Company of Biologists Ltd Country of Publication: England NLM ID: 101483332 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1754-8411 (Electronic) Linking ISSN: 17548403 NLM ISO Abbreviation: Dis Model Mech Subsets: MEDLINE

مواضيع طبية MeSH: Intellectual Disability*/metabolism, Animals ; Mice ; Cell Self Renewal ; Glycosylation ; N-Acetylglucosaminyltransferases/genetics ; N-Acetylglucosaminyltransferases/metabolism

المؤلفون: Soria LR; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy. l.soria@tigem.it., Makris G; Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland., D'Alessio AM; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., De Angelis A; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Boffa I; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Pravata VM; School of Life Sciences, University of Dundee, Dundee, UK., Rüfenacht V; Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland., Attanasio S; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Nusco E; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Arena P; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy., Ferenbach AT; School of Life Sciences, University of Dundee, Dundee, UK., Paris D; Institute of Biomolecular Chemistry, National Research Council, Pozzuoli, Italy., Cuomo P; Institute of Biomolecular Chemistry, National Research Council, Pozzuoli, Italy., Motta A; Institute of Biomolecular Chemistry, National Research Council, Pozzuoli, Italy., Nitzahn M; Molecular Biology Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Lipshutz GS; Molecular Biology Institute, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA.; Surgery, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA., Martínez-Pizarro A; Centro de Biología Molecular Severo Ochoa UAM-CSIC, CIBERER, IdiPaz, Universidad Autónoma, Madrid, Spain., Richard E; Centro de Biología Molecular Severo Ochoa UAM-CSIC, CIBERER, IdiPaz, Universidad Autónoma, Madrid, Spain., Desviat LR; Centro de Biología Molecular Severo Ochoa UAM-CSIC, CIBERER, IdiPaz, Universidad Autónoma, Madrid, Spain., Häberle J; Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland., van Aalten DMF; School of Life Sciences, University of Dundee, Dundee, UK., Brunetti-Pierri N; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy. brunetti@tigem.it.; Department of Translational Medicine, Federico II University, Naples, Italy. brunetti@tigem.it.; Scuola Superiore Meridionale (SSM, School of Advanced Studies), Genomics and Experimental Medicine Program, University of Naples Federico II, Naples, Italy. brunetti@tigem.it.

المصدر: Nature communications [Nat Commun] 2022 Sep 05; Vol. 13 (1), pp. 5212. Date of Electronic Publication: 2022 Sep 05.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

مواضيع طبية MeSH: Ammonia*/metabolism , Carbamoyl-Phosphate Synthase (Ammonia)*/genetics , Carbamoyl-Phosphate Synthase (Ammonia)*/metabolism , Hyperammonemia*/genetics , Hyperammonemia*/metabolism , Urea*/metabolism , Uridine Diphosphate*/genetics , Uridine Diphosphate*/metabolism, Acetylglucosamine ; Animals ; Biocatalysis ; Disease Models, Animal ; Glycosylation ; Humans ; Mammals/metabolism ; Mice ; N-Acetylglucosaminyltransferases/genetics ; N-Acetylglucosaminyltransferases/metabolism ; Propionic Acidemia/genetics ; Propionic Acidemia/metabolism ; Protein Processing, Post-Translational/genetics

المؤلفون: Bartual SG; School of Life Sciences, University of Dundee, Dundee DD1 5EH, United Kingdom., Wei W; School of Life Sciences, University of Dundee, Dundee DD1 5EH, United Kingdom., Zhou Y; College of Life Science and Technology, Guangxi University, Nanning 530004, China.; State Key Laboratory of Non-Food Biomass and Enzyme Technology, Guangxi Academy of Sciences, Nanning 530007, China., Pravata VM; School of Life Sciences, University of Dundee, Dundee DD1 5EH, United Kingdom., Fang W; School of Life Sciences, University of Dundee, Dundee DD1 5EH, United Kingdom.; State Key Laboratory of Non-Food Biomass and Enzyme Technology, Guangxi Academy of Sciences, Nanning 530007, China., Yan K; School of Life Sciences, University of Dundee, Dundee DD1 5EH, United Kingdom., Ferenbach AT; School of Life Sciences, University of Dundee, Dundee DD1 5EH, United Kingdom., Lockhart DEA; Aberdeen Fungal Group, Institute of Medical Sciences, University of Aberdeen, Aberdeen AB25 2ZD, United Kingdom., van Aalten DMF; School of Life Sciences, University of Dundee, Dundee DD1 5EH, United Kingdom; dmfvanaalten@dundee.ac.uk.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2021 Sep 28; Vol. 118 (39).

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Aspergillus fumigatus/*metabolism , Basic-Leucine Zipper Transcription Factors/*metabolism , Cell Wall/*physiology , Fungal Proteins/*metabolism , Intracellular Signaling Peptides and Proteins/*metabolism , Protein Serine-Threonine Kinases/*metabolism , rho GTP-Binding Proteins/*metabolism, Aspergillus fumigatus/genetics ; Aspergillus fumigatus/growth & development ; Basic-Leucine Zipper Transcription Factors/chemistry ; Basic-Leucine Zipper Transcription Factors/genetics ; Fungal Proteins/chemistry ; Fungal Proteins/genetics ; Intracellular Signaling Peptides and Proteins/chemistry ; Intracellular Signaling Peptides and Proteins/genetics ; Protein Conformation ; Protein Serine-Threonine Kinases/chemistry ; Protein Serine-Threonine Kinases/genetics ; Signal Transduction ; rho GTP-Binding Proteins/chemistry ; rho GTP-Binding Proteins/genetics

المؤلفون: Pravata VM; Division of Gene Regulation and Expression and School of Life Sciences, University of Dundee, Dundee, UK., Omelková M; Division of Gene Regulation and Expression and School of Life Sciences, University of Dundee, Dundee, UK., Stavridis MP; Division of Cell and Developmental Biology, School of Life Sciences, University of Dundee, Dundee, UK., Desbiens CM; Department of Biochemistry and Molecular Biology and Chemistry, Complex Carbohydrate Research Center, University of Georgia, Athens, GA, USA., Stephen HM; Department of Biochemistry and Molecular Biology and Chemistry, Complex Carbohydrate Research Center, University of Georgia, Athens, GA, USA., Lefeber DJ; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, 6500 HB, Nijmegen, The Netherlands., Gecz J; Adelaide Medical School and the Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Gundogdu M; Institute of Molecular Cell and System Biology, University of Glasgow, Glasgow, UK., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Tartu, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia., Joss S; West of Scotland Genetic Service, Queen Elizabeth University Hospital, Glasgow, UK., Schwartz CE; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Wells L; Department of Biochemistry and Molecular Biology and Chemistry, Complex Carbohydrate Research Center, University of Georgia, Athens, GA, USA. lwells@ccrc.uga.edu., van Aalten DMF; Division of Gene Regulation and Expression and School of Life Sciences, University of Dundee, Dundee, UK. dmfvanaalten@dundee.ac.uk.; Institute of Molecular Precision Medicine, Xiangya Hospital, Central South University, Changsha, China. dmfvanaalten@dundee.ac.uk.

المصدر: European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Jun; Vol. 28 (6), pp. 706-714. Date of Electronic Publication: 2020 Feb 20.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't; Review

بيانات الدورية: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE

مواضيع طبية MeSH: Congenital Disorders of Glycosylation/*genetics , Genetic Diseases, X-Linked/*genetics , Intellectual Disability/*genetics , N-Acetylglucosaminyltransferases/*genetics, Animals ; Congenital Disorders of Glycosylation/pathology ; Genetic Diseases, X-Linked/pathology ; Humans ; Intellectual Disability/pathology ; N-Acetylglucosaminyltransferases/chemistry ; N-Acetylglucosaminyltransferases/metabolism ; Point Mutation ; Syndrome

المؤلفون: Pravata VM; Division of Gene Regulation and Expression, School of Life Sciences, University of Dundee, UK., Gundogdu M; Division of Gene Regulation and Expression, School of Life Sciences, University of Dundee, UK., Bartual SG; Division of Gene Regulation and Expression, School of Life Sciences, University of Dundee, UK., Ferenbach AT; Division of Gene Regulation and Expression, School of Life Sciences, University of Dundee, UK., Stavridis M; Division of Cell and Developmental Biology, School of Life Sciences, University of Dundee, UK., Õunap K; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Estonia., Pajusalu S; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Estonia.; Department of Clinical Genetics, Institute of Clinical Medicine, University of Tartu, Estonia., Žordania R; Department of Clinical Genetics, United Laboratories, Tartu University Hospital, Estonia., Wojcik MH; Divisions of Newborn Medicine and Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., van Aalten DMF; Division of Gene Regulation and Expression, School of Life Sciences, University of Dundee, UK.

المصدر: FEBS letters [FEBS Lett] 2020 Feb; Vol. 594 (4), pp. 717-727. Date of Electronic Publication: 2019 Nov 07.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: John Wiley & Sons Ltd Country of Publication: England NLM ID: 0155157 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3468 (Electronic) Linking ISSN: 00145793 NLM ISO Abbreviation: FEBS Lett Subsets: MEDLINE

مواضيع طبية MeSH: Catalytic Domain* , Mutation, Missense*, Intellectual Disability/*enzymology , Intellectual Disability/*genetics , N-Acetylglucosaminyltransferases/*chemistry , N-Acetylglucosaminyltransferases/*genetics, Animals ; Cell Line ; Glycosylation ; Humans ; Intellectual Disability/metabolism ; Mice ; Models, Molecular ; N-Acetylglucosaminyltransferases/metabolism

المؤلفون: Pravata VM; Division of Gene Regulation and Expression, School of Life Sciences, University of Dundee, DD1 5EH Dundee, United Kingdom., Muha V; Division of Gene Regulation and Expression, School of Life Sciences, University of Dundee, DD1 5EH Dundee, United Kingdom., Gundogdu M; Division of Gene Regulation and Expression, School of Life Sciences, University of Dundee, DD1 5EH Dundee, United Kingdom., Ferenbach AT; Division of Gene Regulation and Expression, School of Life Sciences, University of Dundee, DD1 5EH Dundee, United Kingdom., Kakade PS; Division of Cell and Developmental Biology, School of Life Sciences, University of Dundee, DD1 5EH Dundee, United Kingdom., Vandadi V; Division of Gene Regulation and Expression, School of Life Sciences, University of Dundee, DD1 5EH Dundee, United Kingdom., Wilmes AC; Division of Gene Regulation and Expression, School of Life Sciences, University of Dundee, DD1 5EH Dundee, United Kingdom., Borodkin VS; Division of Gene Regulation and Expression, School of Life Sciences, University of Dundee, DD1 5EH Dundee, United Kingdom., Joss S; West of Scotland Genetic Service, Queen Elizabeth University Hospital, G51 4TF Glasgow, United Kingdom., Stavridis MP; Division of Cell and Developmental Biology, School of Life Sciences, University of Dundee, DD1 5EH Dundee, United Kingdom., van Aalten DMF; Division of Gene Regulation and Expression, School of Life Sciences, University of Dundee, DD1 5EH Dundee, United Kingdom; dmfvanaalten@dundee.ac.uk.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2019 Jul 23; Vol. 116 (30), pp. 14961-14970. Date of Electronic Publication: 2019 Jul 11.

نوع المنشور: Case Reports; Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Catalytic Domain* , Loss of Function Mutation*, Genetic Diseases, X-Linked/*genetics , Intellectual Disability/*genetics , N-Acetylglucosaminyltransferases/*genetics, Animals ; Cell Line ; Drosophila ; Female ; Genetic Diseases, X-Linked/pathology ; Host Cell Factor C1/metabolism ; Humans ; Intellectual Disability/pathology ; Mice ; N-Acetylglucosaminyltransferases/chemistry ; N-Acetylglucosaminyltransferases/metabolism ; Neurogenesis ; Point Mutation ; Twins, Monozygotic