Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Shorrock HK"'
Autor:
Groen, EJN, Perenthaler, Elena, Courtney, NL, Jordan, CY, Shorrock, HK, van der Hoorn, D, Huang, YT, Murray, LM, Viero, G, Gillingwater, TH
Publikováno v:
Groen, E, Perenthaler, E, Courtney, N, Jordan, C, Shorrock, H, van der Hoorn, D, Huang, Y, Murray, L, Viero, G & Gillingwater, T 2018, ' Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy ', Human Molecular Genetics . https://doi.org/10.1093/hmg/ddy195
Human Molecular Genetics, 27(16), 2851-2862. Oxford University Press
Human Molecular Genetics, 27(16), 2851-2862. Oxford University Press
Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by deleterious variants in SMN1 that lead to a marked decrease in survival motor neuron (SMN) protein expression. Humans have a second SMN gene (SMN2) that is almost identical
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::8e46049485f0de49d0de4df3e467c36a
https://hdl.handle.net/20.500.11820/7e272dc0-0fa1-4198-b817-d77c39e7dfc8
https://hdl.handle.net/20.500.11820/7e272dc0-0fa1-4198-b817-d77c39e7dfc8
Autor:
Bernabò P, Tebaldi T, Groen EJN, Lane FM, Perenthaler E, Mattedi F, Newbery HJ, Zhou H, Zuccotti P, Potrich V, Shorrock HK, Muntoni F, Quattrone A, Gillingwater TH, Viero G
Publikováno v:
Cell reports 21 (2017): 953–965. doi:10.1016/j.celrep.2017.10.010
info:cnr-pdr/source/autori:Bernabò P, Tebaldi T, Groen EJN, Lane FM, Perenthaler E, Mattedi F, Newbery HJ, Zhou H, Zuccotti P, Potrich V, Shorrock HK, Muntoni F, Quattrone A, Gillingwater TH, Viero G/titolo:In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology/doi:10.1016%2Fj.celrep.2017.10.010/rivista:Cell reports/anno:2017/pagina_da:953/pagina_a:965/intervallo_pagine:953–965/volume:21
info:cnr-pdr/source/autori:Bernabò P, Tebaldi T, Groen EJN, Lane FM, Perenthaler E, Mattedi F, Newbery HJ, Zhou H, Zuccotti P, Potrich V, Shorrock HK, Muntoni F, Quattrone A, Gillingwater TH, Viero G/titolo:In Vivo Translatome Profiling in Spinal Muscular Atrophy Reveals a Role for SMN Protein in Ribosome Biology/doi:10.1016%2Fj.celrep.2017.10.010/rivista:Cell reports/anno:2017/pagina_da:953/pagina_a:965/intervallo_pagine:953–965/volume:21
Genetic alterations impacting ubiquitously expressed proteins involved in RNA metabolism often result in neurodegenerative conditions, with increasing evidence suggesting that translation defects can contribute to disease. Spinal muscular atrophy (SM
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=cnr_________::2a56161ee78600fa78438d8ca6a95d1a
https://publications.cnr.it/doc/378637
https://publications.cnr.it/doc/378637
Autor:
Shorrock HK, Aliyeva A, Frias JA, DeMeo VA, Lennon CD, DeMeo CC, Mascorro AK, Shaughnessy S, Mazdiyasni H, Cleary JD, Reddy K, Vangaveti S, Shin DS, Berglund JA
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2024 Aug 17. Date of Electronic Publication: 2024 Aug 17.
Autor:
Shorrock HK; The RNA Institute, University at Albany-SUNY, Albany, NY 12222, USA., Lennon CD; The RNA Institute, University at Albany-SUNY, Albany, NY 12222, USA., Aliyeva A; The RNA Institute, University at Albany-SUNY, Albany, NY 12222, USA.; Department of Biology, University at Albany-SUNY, Albany, NY 12222, USA., Davey EE; The RNA Institute, University at Albany-SUNY, Albany, NY 12222, USA., DeMeo CC; The RNA Institute, University at Albany-SUNY, Albany, NY 12222, USA., Pritchard CE; The RNA Institute, University at Albany-SUNY, Albany, NY 12222, USA., Planco L; The RNA Institute, University at Albany-SUNY, Albany, NY 12222, USA., Velez JM; The RNA Institute, University at Albany-SUNY, Albany, NY 12222, USA.; Department of Biology, University at Albany-SUNY, Albany, NY 12222, USA., Mascorro-Huamancaja A; The RNA Institute, University at Albany-SUNY, Albany, NY 12222, USA., Shin DS; Department of Neuroscience and Experimental Therapeutics, Albany Medical College, Albany, NY 12208, USA., Cleary JD; The RNA Institute, University at Albany-SUNY, Albany, NY 12222, USA., Berglund JA; The RNA Institute, University at Albany-SUNY, Albany, NY 12222, USA.; Department of Biology, University at Albany-SUNY, Albany, NY 12222, USA.
Publikováno v:
Brain : a journal of neurology [Brain] 2024 Feb 01; Vol. 147 (2), pp. 486-504.
Autor:
Brown SJ; School of Pharmacy and Bioengineering, Keele University, Keele ST5 5BG, UK.; Wolfson Centre for Inherited Neuromuscular Disease, TORCH Building, RJAH Orthopaedic Hospital, Oswestry SY10 7AG, UK., Šoltić D; School of Pharmacy and Bioengineering, Keele University, Keele ST5 5BG, UK.; Wolfson Centre for Inherited Neuromuscular Disease, TORCH Building, RJAH Orthopaedic Hospital, Oswestry SY10 7AG, UK., Synowsky SA; BSRC Mass Spectrometry and Proteomics Facility, University of St Andrews, St Andrews KY16 9ST, UK., Shirran SL; BSRC Mass Spectrometry and Proteomics Facility, University of St Andrews, St Andrews KY16 9ST, UK., Chilcott E; AGCTlab.org, Centre of Gene and Cell Therapy, Centre for Biomedical Sciences, Department of Biological Sciences, School of Life Sciences and the Environment, Royal Holloway University of London, Egham Hill, Egham, Surrey TW20 0EX, UK., Shorrock HK; Edinburgh Medical School: Biomedical Sciences, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh EH8 9XD, UK., Gillingwater TH; Edinburgh Medical School: Biomedical Sciences, Euan MacDonald Centre for Motor Neurone Disease Research, University of Edinburgh, Edinburgh EH8 9XD, UK., Yáñez-Muñoz RJ; AGCTlab.org, Centre of Gene and Cell Therapy, Centre for Biomedical Sciences, Department of Biological Sciences, School of Life Sciences and the Environment, Royal Holloway University of London, Egham Hill, Egham, Surrey TW20 0EX, UK., Schneider B; Bertarelli Platform for Gene Therapy, Ecole Polytechnique Fédérale de Lausanne (EPFL), 1202 Geneva, Switzerland.; Brain Mind Institute, Ecole Polytechnique Fédérale de Lausanne (EPFL), 1015 Lausanne, Switzerland., Bowerman M; Wolfson Centre for Inherited Neuromuscular Disease, TORCH Building, RJAH Orthopaedic Hospital, Oswestry SY10 7AG, UK.; School of Medicine, Keele University, Keele ST5 5BG, UK., Fuller HR; School of Pharmacy and Bioengineering, Keele University, Keele ST5 5BG, UK.; Wolfson Centre for Inherited Neuromuscular Disease, TORCH Building, RJAH Orthopaedic Hospital, Oswestry SY10 7AG, UK.
Publikováno v:
Human molecular genetics [Hum Mol Genet] 2023 Oct 04; Vol. 32 (20), pp. 2950-2965.
Individual transcriptomic response to strength training for patients with myotonic dystrophy type 1.
Autor:
Davey EE; RNA Institute, College of Arts and Sciences, University at Albany-SUNY, Albany, New York, USA., Légaré C; RNA Institute, College of Arts and Sciences, University at Albany-SUNY, Albany, New York, USA.; Department of Health Sciences, Université du Québec à Chicoutimi, Saguenay, Québec, Canada.; Groupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, Saguenay, Quebec, Canada.; Centre de recherche Charles-Le Moyne Saguenay-Lac-Saint-Jean sur les innovations en santé (CR-CSIS), Faculté de médecine et des sciences de la santé de l'Université de Sherbrooke, Site Saguenay, Saguenay, Quebec, Canada., Planco L; RNA Institute, College of Arts and Sciences, University at Albany-SUNY, Albany, New York, USA., Shaughnessy S; RNA Institute, College of Arts and Sciences, University at Albany-SUNY, Albany, New York, USA., Lennon CD; RNA Institute, College of Arts and Sciences, University at Albany-SUNY, Albany, New York, USA., Roussel MP; Groupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, Saguenay, Quebec, Canada.; Centre de recherche Charles-Le Moyne Saguenay-Lac-Saint-Jean sur les innovations en santé (CR-CSIS), Faculté de médecine et des sciences de la santé de l'Université de Sherbrooke, Site Saguenay, Saguenay, Quebec, Canada.; Department of Basic Sciences, Université du Québec à Chicoutimi, Saguenay, Québec, Canada., Shorrock HK; RNA Institute, College of Arts and Sciences, University at Albany-SUNY, Albany, New York, USA., Hung M; Department of Orthopaedic Surgery Operations, School of Medicine, University of Utah, Salt Lake City, Utah, USA.; College of Dental Medicine, Roseman University of Health Sciences, South Jordan, Utah, USA., Cleary JD; RNA Institute, College of Arts and Sciences, University at Albany-SUNY, Albany, New York, USA., Duchesne E; Department of Health Sciences, Université du Québec à Chicoutimi, Saguenay, Québec, Canada.; Groupe de Recherche Interdisciplinaire sur les Maladies Neuromusculaires (GRIMN), Centre intégré universitaire de santé et de services sociaux du Saguenay-Lac-Saint-Jean, Saguenay, Quebec, Canada.; Centre de recherche Charles-Le Moyne Saguenay-Lac-Saint-Jean sur les innovations en santé (CR-CSIS), Faculté de médecine et des sciences de la santé de l'Université de Sherbrooke, Site Saguenay, Saguenay, Quebec, Canada., Berglund JA; RNA Institute, College of Arts and Sciences, University at Albany-SUNY, Albany, New York, USA.; Department of Biological Sciences, College of Arts and Sciences, University at Albany-SUNY, Albany, New York, USA.
Publikováno v:
JCI insight [JCI Insight] 2023 Jul 24; Vol. 8 (14). Date of Electronic Publication: 2023 Jul 24.
Autor:
Zhou H; Genetics and Genomic Medicine Research and Teaching Department.; NIHR Great Ormond Street Hospital Biomedical Research Centre., Hong Y; Infection, Inflammation and Rheumatology Section, and., Scoto M; NIHR Great Ormond Street Hospital Biomedical Research Centre.; Dubowitz Neuromuscular Centre, Developmental Neurosciences Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Thomson A; Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen, United Kingdom., Pead E; Centre for Clinical Brain Sciences and., MacGillivray T; Centre for Clinical Brain Sciences and., Hernandez-Gerez E; Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen, United Kingdom., Catapano F; Dubowitz Neuromuscular Centre, Developmental Neurosciences Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Meng J; Genetics and Genomic Medicine Research and Teaching Department., Zhang Q; Genetics and Genomic Medicine Research and Teaching Department., Hunter G; Edinburgh Medical School, Biomedical Sciences, College of Medicine & Veterinary Medicine, University of Edinburgh, Edinburgh, United Kingdom., Shorrock HK; Edinburgh Medical School, Biomedical Sciences, College of Medicine & Veterinary Medicine, University of Edinburgh, Edinburgh, United Kingdom., Ng TK; Edinburgh Medical School, Biomedical Sciences, College of Medicine & Veterinary Medicine, University of Edinburgh, Edinburgh, United Kingdom., Hamida A; Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen, United Kingdom., Sanson M; Dubowitz Neuromuscular Centre, Developmental Neurosciences Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Baranello G; NIHR Great Ormond Street Hospital Biomedical Research Centre.; Dubowitz Neuromuscular Centre, Developmental Neurosciences Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom., Howell K; Microvascular Diagnostics, Institute of Immunity and Transplantation, University College London, London, United Kingdom., Gillingwater TH; Edinburgh Medical School, Biomedical Sciences, College of Medicine & Veterinary Medicine, University of Edinburgh, Edinburgh, United Kingdom., Brogan P; Infection, Inflammation and Rheumatology Section, and., Thompson DA; Tony Kriss Visual Electrophysiology Unit, Clinical and Academic Department of Ophthalmology, Sight and Sound Centre, Great Ormond Street Hospital, London, United Kingdom., Parson SH; Institute of Medical Sciences, University of Aberdeen, Foresterhill, Aberdeen, United Kingdom., Muntoni F; NIHR Great Ormond Street Hospital Biomedical Research Centre.; Dubowitz Neuromuscular Centre, Developmental Neurosciences Research and Teaching Department, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2022 Nov 01; Vol. 132 (21). Date of Electronic Publication: 2022 Nov 01.
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.
Autor:
Jenquin JR; Department of Biochemistry and Molecular Biology, Center for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610, USA.; RNA Institute, College of Arts and Sciences, University at Albany-SUNY, Albany, NY 12222, USA., O'Brien AP; Department of Molecular Genetics and Microbiology, Center for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610, USA., Poukalov K; Department of Molecular Genetics and Microbiology, Center for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610, USA., Lu Y; Department of Molecular Genetics and Microbiology, Center for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610, USA., Frias JA; RNA Institute, College of Arts and Sciences, University at Albany-SUNY, Albany, NY 12222, USA.; Department of Biological Sciences, College of Arts and Sciences, University at Albany-SUNY, Albany, NY 12222, USA., Shorrock HK; RNA Institute, College of Arts and Sciences, University at Albany-SUNY, Albany, NY 12222, USA., Richardson JI; Department of Biochemistry and Molecular Biology, Center for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610, USA.; RNA Institute, College of Arts and Sciences, University at Albany-SUNY, Albany, NY 12222, USA.; Department of Biological Sciences, College of Arts and Sciences, University at Albany-SUNY, Albany, NY 12222, USA., Mazdiyasni H; RNA Institute, College of Arts and Sciences, University at Albany-SUNY, Albany, NY 12222, USA., Yang H; Department of Medicinal Chemistry, Center for Natural Products Drug Discovery and Development, College of Pharmacy, University of Florida, Gainesville, FL 32610, USA., Huigens RW 3rd; Department of Medicinal Chemistry, Center for Natural Products Drug Discovery and Development, College of Pharmacy, University of Florida, Gainesville, FL 32610, USA., Boykin D; Department of Chemistry, Georgia State University, Atlanta, GA 30303, USA., Ranum LPW; Department of Molecular Genetics and Microbiology, Center for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610, USA., Cleary JD; RNA Institute, College of Arts and Sciences, University at Albany-SUNY, Albany, NY 12222, USA., Wang ET; Department of Molecular Genetics and Microbiology, Center for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610, USA., Berglund JA; Department of Biochemistry and Molecular Biology, Center for NeuroGenetics, College of Medicine, University of Florida, Gainesville, FL 32610, USA.; RNA Institute, College of Arts and Sciences, University at Albany-SUNY, Albany, NY 12222, USA.; Department of Biological Sciences, College of Arts and Sciences, University at Albany-SUNY, Albany, NY 12222, USA.
Publikováno v:
IScience [iScience] 2022 Apr 04; Vol. 25 (5), pp. 104198. Date of Electronic Publication: 2022 Apr 04 (Print Publication: 2022).
Autor:
Perez BA; Center for NeuroGenetics, University of Florida, Gainesville, FL, USA.; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, USA., Shorrock HK; Center for NeuroGenetics, University of Florida, Gainesville, FL, USA.; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, USA., Banez-Coronel M; Center for NeuroGenetics, University of Florida, Gainesville, FL, USA.; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, USA., Zu T; Center for NeuroGenetics, University of Florida, Gainesville, FL, USA.; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, USA., Romano LE; Center for NeuroGenetics, University of Florida, Gainesville, FL, USA.; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, USA., Laboissonniere LA; Center for NeuroGenetics, University of Florida, Gainesville, FL, USA.; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, USA., Reid T; Center for NeuroGenetics, University of Florida, Gainesville, FL, USA.; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, USA., Ikeda Y; Department of Neurology, Gunma University, Maebashi, Japan., Reddy K; RNA Institute, University at Albany-SUNY, Albany, NY, USA., Gomez CM; Department of Neurology, University of Chicago, Chicago, IL, USA., Bird T; Department of Neurology, University of Washington, Seattle, WA, USA.; Geriatrics Research Section, VA Puget Sound Health Care System, Seattle, WA, USA., Ashizawa T; Department of Neurology, Houston Methodist Research Institute, Houston, TX, USA., Schut LJ; Department of Neurology, University of Minnesota, Minneapolis, MN, USA., Brusco A; Department of Medical Sciences, University of Torino, Torino, Italy.; Medical Genetics Units, 'Città della Salute e della Scienza' University Hospital, Torino, Italy., Berglund JA; Center for NeuroGenetics, University of Florida, Gainesville, FL, USA.; RNA Institute, University at Albany-SUNY, Albany, NY, USA., Hasholt LF; Institute of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen, Denmark., Nielsen JE; Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark., Subramony SH; Center for NeuroGenetics, University of Florida, Gainesville, FL, USA.; McKnight Brain Institute, University of Florida, Gainesville, FL, USA., Ranum LP; Center for NeuroGenetics, University of Florida, Gainesville, FL, USA.; Department of Molecular Genetics and Microbiology, University of Florida, Gainesville, FL, USA.; McKnight Brain Institute, University of Florida, Gainesville, FL, USA.; Genetics Institute, University of Florida, Gainesville, FL, USA.
Publikováno v:
EMBO molecular medicine [EMBO Mol Med] 2021 Nov 08; Vol. 13 (11), pp. e14095. Date of Electronic Publication: 2021 Oct 11.