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RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.

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第一作者: Franziska,Paul
第一单位: Laboratory of Human Genetics & Therapeutics, Institute of Molecular and Cell Biology (IMCB), A*STAR, Singapore.
作者单位: Laboratory of Human Genetics & Therapeutics, Institute of Molecular and Cell Biology (IMCB), A*STAR, Singapore. [1] Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore. [2] Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran. [3] Pediatric Pathology Research Centre, Research Institute for Children Health, Shahid Beheshti Medical University, Tehran, Iran. [4] Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Tehran University Of Medical Sciences, Tehran, Iran. [5] Model Development, A*STAR Skin Research Labs (ASRL), Singapore. [6] Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore.;Department of Cell and Molecular Biology & Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran.;Department of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey. [7] Department of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey. [8] Department of Human Genetics, McGill University, Montréal, Québec, Canada.;The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada. [9] Department of Radiology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. [10] 3billion Inc., Seoul, South Korea.;Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.;Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA. [11] Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.;Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA. [12] Department of Human Genetics, McGill University, Montréal, Québec, Canada.;The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada.;Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada. [13] Laboratory of Lipid Biochemistry and Protein Interactions (LIPIT), Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium. [14] The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada.;Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada. [15] Department of Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands. [16] Kariminejad-Najmabadi Pathology & Genetics Centre, Tehran, Iran. [17] Laboratory of Human Genetics & Therapeutics, Institute of Molecular and Cell Biology (IMCB), A*STAR, Singapore.;Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore.;Department of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey. [18]
DOI 10.1093/hmg/ddac120
PMID 35652444
发布时间 2022-12-01
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