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EXOSC8 mutations alter mRNA metabolism and cause hypomyelination with spinal muscular atrophy and cerebellar hypoplasia.
Boczonadi, Veronika; Müller, Juliane S; Pyle, Angela; Munkley, Jennifer; Dor, Talya; Quartararo, Jade; Ferrero, Ileana; Karcagi, Veronika; Giunta, Michele; Polvikoski, Tuomo; Birchall, Daniel; Princzinger, Agota; Cinnamon, Yuval; Lützkendorf, Susanne; Piko, Henriett; Reza, Mojgan; Florez, Laura; Santibanez-Koref, Mauro; Griffin, Helen; Schuelke, Markus; Elpeleg, Orly; Kalaydjieva, Luba; Lochmüller, Hanns; Elliott, David J; Chinnery, Patrick F; Edvardson, Shimon; Horvath, Rita.
Affiliation
  • Boczonadi V; 1] Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK [2].
  • Müller JS; 1] Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK [2].
  • Pyle A; 1] Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK [2].
  • Munkley J; 1] Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK [2].
  • Dor T; The Monique and Jacques Roboh Department of Genetic Research, Hadassah- Hebrew University Medical Center, Jerusalem 91120, Israel.
  • Quartararo J; Department of Life Sciences, University of Parma, Parco Area delle Scienze 11A, Parma 43124, Italy.
  • Ferrero I; Department of Life Sciences, University of Parma, Parco Area delle Scienze 11A, Parma 43124, Italy.
  • Karcagi V; Department of Molecular Genetics and Diagnostics, NIEH, Albert Florian ut 2-6, Budapest 1097, Hungary.
  • Giunta M; Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Polvikoski T; Department of Pathology, Institute for Ageing and Health, Newcastle University, Campus for Ageing and Vitality, Newcastle upon Tyne NE4 5PL, UK.
  • Birchall D; Neuroradiology Department, Regional Neurosciences Centre, Queen Victoria Road, Newcastle upon Tyne NE1 4PL, UK.
  • Princzinger A; Department of Paediatrics, Josa Andras Hospital, Szent Istvan utca 6, Nyiregyhaza 4400, Hungary.
  • Cinnamon Y; 1] The Monique and Jacques Roboh Department of Genetic Research, Hadassah- Hebrew University Medical Center, Jerusalem 91120, Israel [2] Department of Poultry and Aquaculture Sciences, Institute of Animal Science, Agricultural Research Organization, The Volcani Center, P.O.Box 6, Bet Dagan 50250, Is
  • Lützkendorf S; Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin, Charité-Platz 1, 10117 Berlin, Germany.
  • Piko H; Department of Molecular Genetics and Diagnostics, NIEH, Albert Florian ut 2-6, Budapest 1097, Hungary.
  • Reza M; Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Florez L; Western Australian Institute for Medical Research/Centre for Medical Research, The University of Western Australia, 35 Stirling Highway Crawley, Western Australia 6009 Perth, Australia.
  • Santibanez-Koref M; Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Griffin H; Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Schuelke M; Department of Neuropediatrics and NeuroCure Clinical Research Center, Charité-Universitätsmedizin, Charité-Platz 1, 10117 Berlin, Germany.
  • Elpeleg O; The Monique and Jacques Roboh Department of Genetic Research, Hadassah- Hebrew University Medical Center, Jerusalem 91120, Israel.
  • Kalaydjieva L; Western Australian Institute for Medical Research/Centre for Medical Research, The University of Western Australia, 35 Stirling Highway Crawley, Western Australia 6009 Perth, Australia.
  • Lochmüller H; Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Elliott DJ; Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Chinnery PF; Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
  • Edvardson S; The Monique and Jacques Roboh Department of Genetic Research, Hadassah- Hebrew University Medical Center, Jerusalem 91120, Israel.
  • Horvath R; Institute of Genetic Medicine, Wellcome Trust Centre for Mitochondrial Research, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
Nat Commun ; 5: 4287, 2014 Jul 03.
Article in En | MEDLINE | ID: mdl-24989451
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spinal Muscular Atrophies of Childhood / Cerebellum / RNA-Binding Proteins / Hereditary Central Nervous System Demyelinating Diseases / Agenesis of Corpus Callosum / Exosome Multienzyme Ribonuclease Complex / Nervous System Malformations Limits: Animals / Female / Humans / Infant / Male Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2014 Document type: Article Country of publication: Reino Unido
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spinal Muscular Atrophies of Childhood / Cerebellum / RNA-Binding Proteins / Hereditary Central Nervous System Demyelinating Diseases / Agenesis of Corpus Callosum / Exosome Multienzyme Ribonuclease Complex / Nervous System Malformations Limits: Animals / Female / Humans / Infant / Male Language: En Journal: Nat Commun Journal subject: BIOLOGIA / CIENCIA Year: 2014 Document type: Article Country of publication: Reino Unido