Identification of the functional domain of the dense core vesicle biogenesis factor HID-1.

Autor: Hummer, Blake H.¹ (AUTHOR), Carter, Theodore¹ (AUTHOR), Sellers, Breanna L.¹ (AUTHOR), Triplett, Jenna D.¹ (AUTHOR), Asensio, Cedric S.¹ (AUTHOR) Cedric.Asensio@du.edu

Publikováno v: PLoS ONE. 9/26/2023, Vol. 18 Issue 9, p1-14. 14p.

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Mutations in HID1 Cause Syndromic Infantile Encephalopathy and Hypopituitarism.

Autor: Schänzer A; Institute of Neuropathology, Justus-Liebig-University, Giessen, Germany., Achleitner MT; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria., Trümbach D; Institute of Developmental Genetics, Helmholtz Center, Munich, Germany.; Institute of Metabolism and Cell Death, Helmholtz Center, Munich, Germany., Hubert L; Inserm UMR1163, Imagine Institute, Tanslational Genetics, Université de Paris, Paris, France., Munnich A; Inserm UMR1163, Imagine Institute, Tanslational Genetics, Université de Paris, Paris, France., Ahlemeyer B; Institute for Anatomy and Cell Biology, Division of Medical Cell Biology, Justus Liebig University, Giessen, Germany., AlAbdulrahim MM; King Abdullah Bin Abdulaziz University Hospital, Riyadh, Saudi Arabia., Greif PA; Experimental Leukemia and Lymphoma Research Department of Medicine III, University Hospital, LMU Munich, Munich, Germany., Vosberg S; Experimental Leukemia and Lymphoma Research Department of Medicine III, University Hospital, LMU Munich, Munich, Germany.; German Cancer Research Centre (DKFZ), Heidelberg, Germany., Hummer B; Molecular and Cellular Biophysics Program, Department of Biological Sciences, University of Denver, Denver, CO, USA., Feichtinger RG; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria., Mayr JA; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria., Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Radboud Center for Mitochondrial Medicine, Department of Pediatrics, Amalia Children's Hospital, Radboudumc, Nijmegen, The Netherlands., Aichner H; Department of Pediatrics, Academic Teaching Hospital, Landeskrankenhaus Feldkirch, Feldkirch, Austria., Rudnik-Schöneborn S; Division of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria., Ruiz A; Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain., Gabau E; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain., Sánchez JP; Paediatric Unit, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain., Ellard S; Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK.; College of Medicine and Health, University of Exeter, Exeter, UK., Homfray T; Saint George's University Hospital and Royal Brompton Hospital, London, UK., Stals KL; Genomic Laboratory, Royal Devon & Exeter NHS Foundation Trust, Exeter, UK., Wurst W; Institute of Developmental Genetics, Helmholtz Center, Munich, Germany.; Chair of Developmental Genetics, Faculty of Life and Food Sciences Weihenstephan, Technische Universität München, Freising-Weihenstephan, Germany.; Deutsches Zentrum für Neurodegenerative Erkrankungen e. V. (DZNE), Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), Ludwig-Maximilians-Universität, Munich, Germany., Neubauer BA; Department of Child Neurology, Justus-Liebig-University, Giessen, Germany., Acker T; Institute of Neuropathology, Justus-Liebig-University, Giessen, Germany., Bohlander SK; Leukaemia and Blood Cancer Research Unit, Department of Molecular Medicine and Pathology, The University of Auckland, Auckland, New Zealand., Asensio C; Molecular and Cellular Biophysics Program, Department of Biological Sciences, University of Denver, Denver, CO, USA., Besmond C; Inserm UMR1163, Imagine Institute, Tanslational Genetics, Université de Paris, Paris, France., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., AlSayed MD; Department of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hahn A; Department of Child Neurology, Justus-Liebig-University, Giessen, Germany., Weber A; Institute of Human Genetics, Justus-Liebig-University, Giessen, Germany.

Publikováno v: Annals of neurology [Ann Neurol] 2021 Jul; Vol. 90 (1), pp. 143-158. Date of Electronic Publication: 2021 Jun 05.