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RABENOSYN separation-of-function mutations uncouple endosomal recycling from lysosomal degradation, causing a distinct Mendelian disorder.
Paul, Franziska; Ng, Calista; Mohamad Sahari, Umar Bin; Nafissi, Shahriar; Nilipoor, Yalda; Tavasoli, Ali Reza; Bonnard, Carine; Wong, Pui-Mun; Nabavizadeh, Nasrinsadat; Altunoglu, Umut; Estiar, Mehrdad A; Majoie, Charles B; Lee, Hane; Nelson, Stanley F; Gan-Or, Ziv; Rouleau, Guy A; Van Veldhoven, Paul P; Massie, Rami; Hennekam, Raoul C; Kariminejad, Ariana; Reversade, Bruno.
Affiliation
  • Paul F; Laboratory of Human Genetics & Therapeutics, Institute of Molecular and Cell Biology (IMCB), A*STAR, Singapore.
  • Ng C; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore.
  • Mohamad Sahari UB; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore.
  • Nafissi S; Department of Neurology, Shariati Hospital, Tehran University of Medical Sciences, Tehran, Iran.
  • Nilipoor Y; Pediatric Pathology Research Centre, Research Institute for Children Health, Shahid Beheshti Medical University, Tehran, Iran.
  • Tavasoli AR; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Tehran University Of Medical Sciences, Tehran, Iran.
  • Bonnard C; Model Development, A*STAR Skin Research Labs (ASRL), Singapore.
  • Wong PM; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore.
  • Nabavizadeh N; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore (GIS), A*STAR, Singapore.
  • Altunoglu U; Department of Cell and Molecular Biology & Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran.
  • Estiar MA; Department of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey.
  • Majoie CB; Department of Medical Genetics, Koç University School of Medicine, Istanbul, Turkey.
  • Lee H; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
  • Nelson SF; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montréal, Québec, Canada.
  • Gan-Or Z; Department of Radiology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands.
  • Rouleau GA; 3billion Inc., Seoul, South Korea.
  • Van Veldhoven PP; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
  • Massie R; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
  • Hennekam RC; Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
  • Kariminejad A; Department of Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, CA, USA.
  • Reversade B; Department of Human Genetics, McGill University, Montréal, Québec, Canada.
Hum Mol Genet ; 31(21): 3729-3740, 2022 10 28.
Article in En | MEDLINE | ID: mdl-35652444
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Full text: 1 Database: MEDLINE Main subject: Endosomes / Vesicular Transport Proteins / Intellectual Disability Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Singapore
Fulltext
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Full text: 1 Database: MEDLINE Main subject: Endosomes / Vesicular Transport Proteins / Intellectual Disability Limits: Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2022 Type: Article Affiliation country: Singapore