Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.

Autor: Kiss RS; Cardiovascular Health Across the Lifespan (CHAL) Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada. Electronic address: robert.kiss@mcgill.ca., Chicoine J; Metabolic Disorders and Complications (MEDIC) Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Khalil Y; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Sladek R; Metabolic Disorders and Complications (MEDIC) Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Chen H; Cardiovascular Health Across the Lifespan (CHAL) Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Pisaturo A; Cardiovascular Health Across the Lifespan (CHAL) Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Martin C; Cardiovascular Health Across the Lifespan (CHAL) Program, Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Dale JD; Leeds Institute of Medical Research, St James's University Hospital, Leeds, United Kingdom., Brudenell TA; Leeds Institute of Medical Research, St James's University Hospital, Leeds, United Kingdom., Kamath A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom; Division of Medical Sciences, University of Oxford, Oxford, United Kingdom., Kyei-Boahen J; Department of Medicine, McGill University Health Centre, CHAL Research Program, Montreal, Canada., Hafiane A; Department of Medicine, McGill University Health Centre, CHAL Research Program, Montreal, Canada., Daliah G; Department of Medicine, McGill University Health Centre, Cancer Research Program, Montreal, Canada., Alecki C; Department of Biochemistry, McGill University, Montreal, Quebec, Canada., Hopes TS; Faculty of Biological Sciences, University of Leeds, Leeds, United Kingdom., Heier M; Department of Clinical Neuroscience for Children, Oslo University Hospital, Oslo, Norway., Aligianis IA; Medical and Developmental Genetics, Medical Research Council Human Genetics Unit, Edinburgh, United Kingdom., Lebrun JJ; Department of Medicine, McGill University Health Centre, Cancer Research Program, Montreal, Canada., Aspden J; Faculty of Biological Sciences, University of Leeds, Leeds, United Kingdom., Paci E; Astbury Centre for Structural Molecular Biology, University of Leeds, Leeds, United Kingdom., Kerksiek A; Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, Bonn, Germany., Lütjohann D; Institute of Clinical Chemistry and Clinical Pharmacology, University Hospital Bonn, Bonn, Germany., Clayton P; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Wills JC; Cancer Research United Kingdom Edinburgh Centre, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom; Firefinch Software Ltd, Edinburgh, United Kingdom., von Kriegsheim A; Cancer Research United Kingdom Edinburgh Centre, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, United Kingdom., Nilsson T; Cancer Research Program (CRP), Research Institute of the McGill University Health Centre, Montreal, Quebec, Canada., Sheridan E; Leeds Institute of Medical Research, St James's University Hospital, Leeds, United Kingdom., Handley MT; Leeds Institute of Medical Research, St James's University Hospital, Leeds, United Kingdom; Faculty of Biological Sciences, University of Leeds, Leeds, United Kingdom. Electronic address: mark.handley@protonmail.com.

Publikováno v: The Journal of biological chemistry [J Biol Chem] 2023 Nov; Vol. 299 (11), pp. 105295. Date of Electronic Publication: 2023 Sep 28.

Disease-associated inosine misincorporation into RNA hinders translation.

Autor: Schroader JH; The RNA Institute, University at Albany, State University of New York, Albany, NY 12222, USA.; Department of Biological Sciences, University at Albany, State University of New York, Albany, NY 12222, USA., Jones LA; The RNA Institute, University at Albany, State University of New York, Albany, NY 12222, USA., Meng R; The RNA Institute, University at Albany, State University of New York, Albany, NY 12222, USA., Shorrock HK; The RNA Institute, University at Albany, State University of New York, Albany, NY 12222, USA., Richardson JI; The RNA Institute, University at Albany, State University of New York, Albany, NY 12222, USA.; Department of Biochemistry and Molecular Biology, Center for NeuroGenetics, University of Florida, Gainesville, FL 32611, USA., Shaughnessy SM; The RNA Institute, University at Albany, State University of New York, Albany, NY 12222, USA., Lin Q; The RNA Institute, University at Albany, State University of New York, Albany, NY 12222, USA.; RNA Epitranscriptomics & Proteomics Resource, University at Albany, Albany, NY 12222, USA., Begley TJ; The RNA Institute, University at Albany, State University of New York, Albany, NY 12222, USA.; Department of Biological Sciences, University at Albany, State University of New York, Albany, NY 12222, USA.; RNA Epitranscriptomics & Proteomics Resource, University at Albany, Albany, NY 12222, USA., Berglund JA; The RNA Institute, University at Albany, State University of New York, Albany, NY 12222, USA.; Department of Biological Sciences, University at Albany, State University of New York, Albany, NY 12222, USA.; Department of Biochemistry and Molecular Biology, Center for NeuroGenetics, University of Florida, Gainesville, FL 32611, USA., Fuchs G; The RNA Institute, University at Albany, State University of New York, Albany, NY 12222, USA.; Department of Biological Sciences, University at Albany, State University of New York, Albany, NY 12222, USA., Handley MT; Faculty of Biological Sciences, University of Leeds, Leeds LS2 9JT, UK., Reddy K; The RNA Institute, University at Albany, State University of New York, Albany, NY 12222, USA.; Department of Biological Sciences, University at Albany, State University of New York, Albany, NY 12222, USA.

Publikováno v: Nucleic acids research [Nucleic Acids Res] 2022 Sep 09; Vol. 50 (16), pp. 9306-9318.

PLAA Mutations Cause a Lethal Infantile Epileptic Encephalopathy by Disrupting Ubiquitin-Mediated Endolysosomal Degradation of Synaptic Proteins.

Autor: Hall EA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Nahorski MS; Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 OXY, UK; Department of Medical Genetics, University of Cambridge, and Cambridge NIHR Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge CB2 OXY, UK., Murray LM; Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK; Euan McDonald Centre for Motor Neuron Disease Research, University of Edinburgh, Edinburgh EH16 4SB, UK., Shaheen R; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia., Perkins E; Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK; Euan McDonald Centre for Motor Neuron Disease Research, University of Edinburgh, Edinburgh EH16 4SB, UK., Dissanayake KN; Euan McDonald Centre for Motor Neuron Disease Research, University of Edinburgh, Edinburgh EH16 4SB, UK; Patrick Wild Centre, University of Edinburgh, Edinburgh EH8 9XD, UK; Centre for Cognitive and Neural Systems, University of Edinburgh, Edinburgh EH8 9JZ, UK., Kristaryanto Y; MRC Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee DD1 5EH, UK., Jones RA; Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK; Euan McDonald Centre for Motor Neuron Disease Research, University of Edinburgh, Edinburgh EH16 4SB, UK., Vogt J; West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, UK., Rivagorda M; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Handley MT; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Mali GR; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Quidwai T; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Soares DC; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Keighren MA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., McKie L; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Mort RL; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Gammoh N; Edinburgh Cancer Research UK Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Garcia-Munoz A; Systems Biology Ireland, University College Dublin, Dublin, Ireland., Davey T; Electron Microscopy Research Services, Newcastle University, Newcastle NE2 4HH, UK., Vermeren M; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Walsh D; West Midlands Regional Genetics Service, Clinical Genetics Unit, Birmingham Women's Hospital, Birmingham B15 2TG, UK., Budd P; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Aligianis IA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Faqeih E; Department of Pediatric Subspecialties, Children's Hospital, King Fahad Medical City, Riyadh 11211, Saudi Arabia., Quigley AJ; NHS Lothian, Department of Paediatric Radiology, Royal Hospital for Sick Children, Edinburgh EH9 1LF, UK., Jackson IJ; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Kulathu Y; MRC Protein Phosphorylation and Ubiquitylation Unit, University of Dundee, Dundee DD1 5EH, UK., Jackson M; Centre for Integrative Physiology, University of Edinburgh, Edinburgh EH8 9XD, UK; Euan McDonald Centre for Motor Neuron Disease Research, University of Edinburgh, Edinburgh EH16 4SB, UK., Ribchester RR; Euan McDonald Centre for Motor Neuron Disease Research, University of Edinburgh, Edinburgh EH16 4SB, UK; Patrick Wild Centre, University of Edinburgh, Edinburgh EH8 9XD, UK; Centre for Cognitive and Neural Systems, University of Edinburgh, Edinburgh EH8 9JZ, UK., von Kriegsheim A; Edinburgh Cancer Research UK Centre, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK; Systems Biology Ireland, University College Dublin, Dublin, Ireland., Alkuraya FS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh 11533, Saudi Arabia; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh 11442, Saudi Arabia., Woods CG; Cambridge Institute for Medical Research, University of Cambridge, Cambridge CB2 OXY, UK; Department of Medical Genetics, University of Cambridge, and Cambridge NIHR Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge CB2 OXY, UK., Maher ER; Department of Medical Genetics, University of Cambridge, and Cambridge NIHR Biomedical Research Centre, Cambridge Biomedical Campus, Cambridge CB2 OXY, UK. Electronic address: erm1000@medschl.cam.ac.uk., Mill P; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK. Electronic address: pleasantine.mill@igmm.ed.ac.uk.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2017 May 04; Vol. 100 (5), pp. 706-724. Date of Electronic Publication: 2017 Apr 13.

Warburg Micro syndrome is caused by RAB18 deficiency or dysregulation.

Autor: Handley MT; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK mark.handley@igmm.ed.ac.uk., Carpanini SM; Division of Neurobiology, The Roslin Institute and R(D)SVS, University of Edinburgh, Easter Bush, Midlothian EH25 9RG, UK., Mali GR; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Sidjanin DJ; Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA., Aligianis IA; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., Jackson IJ; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, UK.

Publikováno v: Open biology [Open Biol] 2015 Jun; Vol. 5 (6), pp. 150047.

Rab18 and a Rab18 GEF complex are required for normal ER structure.

Autor: Gerondopoulos A; Department of Biochemistry, University of Oxford, Oxford OX1 3QU, England, UK., Bastos RN; Department of Biochemistry, University of Oxford, Oxford OX1 3QU, England, UK., Yoshimura S; Department of Cell Biology, Graduate School of Medicine, Osaka University, Suita, Osaka 565-0871, Japan., Anderson R; Department of Biochemistry, University of Oxford, Oxford OX1 3QU, England, UK., Carpanini S; Division of Neurobiology, The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh EH25 9RG, Scotland, UK., Aligianis I; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, Scotland, UK., Handley MT; MRC Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Edinburgh EH4 2XU, Scotland, UK francis.barr@bioch.ox.ac.uk mark.handley@igmm.ed.ac.uk., Barr FA; Department of Biochemistry, University of Oxford, Oxford OX1 3QU, England, UK francis.barr@bioch.ox.ac.uk mark.handley@igmm.ed.ac.uk.

Publikováno v: The Journal of cell biology [J Cell Biol] 2014 Jun 09; Vol. 205 (5), pp. 707-20. Date of Electronic Publication: 2014 Jun 02.