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Biallelic Variants in UBA5 Link Dysfunctional UFM1 Ubiquitin-like Modifier Pathway to Severe Infantile-Onset Encephalopathy.
Muona, Mikko; Ishimura, Ryosuke; Laari, Anni; Ichimura, Yoshinobu; Linnankivi, Tarja; Keski-Filppula, Riikka; Herva, Riitta; Rantala, Heikki; Paetau, Anders; Pöyhönen, Minna; Obata, Miki; Uemura, Takefumi; Karhu, Thomas; Bizen, Norihisa; Takebayashi, Hirohide; McKee, Shane; Parker, Michael J; Akawi, Nadia; McRae, Jeremy; Hurles, Matthew E; Kuismin, Outi; Kurki, Mitja I; Anttonen, Anna-Kaisa; Tanaka, Keiji; Palotie, Aarno; Waguri, Satoshi; Lehesjoki, Anna-Elina; Komatsu, Masaaki.
Afiliación
  • Muona M; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland; Folkhälsan Institute of Genetics, Helsinki 00290, Finland; Neuroscience Center, University of Helsinki, Helsinki 00290, Finland; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki 00
  • Ishimura R; Department of Biochemistry, Niigata University Graduate School of Medical and Dental Sciences, Chuo-ku, Niigata 951-8510, Japan; Laboratory of Protein Metabolism, The Tokyo Metropolitan Institute of Medical Science, Setagaya-ku, Tokyo 156-8506, Japan.
  • Laari A; Folkhälsan Institute of Genetics, Helsinki 00290, Finland; Neuroscience Center, University of Helsinki, Helsinki 00290, Finland; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki 00290, Finland.
  • Ichimura Y; Department of Biochemistry, Niigata University Graduate School of Medical and Dental Sciences, Chuo-ku, Niigata 951-8510, Japan.
  • Linnankivi T; Department of Child Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki 00290, Finland.
  • Keski-Filppula R; PEDEGO Research Unit, University of Oulu, Oulu 90014, Finland; Medical Research Center Oulu, University of Oulu, Oulu 90014, Finland; Department of Clinical Genetics, Oulu University Hospital, Oulu 90029, Finland.
  • Herva R; Department of Pathology, Cancer and Translational Medicine Research Unit, Medical Research Center Oulu (MRC Oulu), Oulu University Hospital and University of Oulu, Oulu 90014, Finland.
  • Rantala H; PEDEGO Research Unit, University of Oulu, Oulu 90014, Finland; Medical Research Center Oulu, University of Oulu, Oulu 90014, Finland; Department of Children and Adolescents, Division of Paediatric Neurology, Oulu University Hospital, Oulu 90029, Finland.
  • Paetau A; Department of Pathology, University of Helsinki and Helsinki University Central Hospital, Helsinki 00290, Finland.
  • Pöyhönen M; Medical and Clinical Genetics, University of Helsinki and Helsinki University Hospital, Helsinki 00290, Finland.
  • Obata M; Department of Biochemistry, Niigata University Graduate School of Medical and Dental Sciences, Chuo-ku, Niigata 951-8510, Japan.
  • Uemura T; Department of Anatomy and Histology, Fukushima Medical University School of Medicine, Hikarigaoka, Fukushima 960-1295, Japan.
  • Karhu T; Folkhälsan Institute of Genetics, Helsinki 00290, Finland; Neuroscience Center, University of Helsinki, Helsinki 00290, Finland; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki 00290, Finland.
  • Bizen N; Division of Neurobiology and Anatomy, Niigata University Graduate School of Medical and Dental Sciences, Chuo-ku, Niigata 951-8510, Japan.
  • Takebayashi H; Division of Neurobiology and Anatomy, Niigata University Graduate School of Medical and Dental Sciences, Chuo-ku, Niigata 951-8510, Japan.
  • McKee S; Department of Genetic Medicine, Belfast City Hospital, Belfast BT9 7AB, UK.
  • Parker MJ; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield S10 2TH, UK.
  • Akawi N; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
  • McRae J; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
  • Hurles ME; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK.
  • Kuismin O; PEDEGO Research Unit, University of Oulu, Oulu 90014, Finland; Medical Research Center Oulu, University of Oulu, Oulu 90014, Finland; Department of Clinical Genetics, Oulu University Hospital, Oulu 90029, Finland.
  • Kurki MI; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland; Neurosurgery of NeuroCenter, Kuopio University Hospital, Kuopio 70029, Finland; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Bost
  • Anttonen AK; Folkhälsan Institute of Genetics, Helsinki 00290, Finland; Neuroscience Center, University of Helsinki, Helsinki 00290, Finland; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki 00290, Finland; Medical and Clinical Genetics, University of Helsinki and Helsinki University
  • Tanaka K; Laboratory of Protein Metabolism, The Tokyo Metropolitan Institute of Medical Science, Setagaya-ku, Tokyo 156-8506, Japan.
  • Palotie A; Institute for Molecular Medicine Finland, University of Helsinki, Helsinki 00290, Finland; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton CB10 1SA, UK; Analytic and Translational Genetics Unit, Department of Medicine, Massachusetts General Hospital and Harvard Medical School,
  • Waguri S; Department of Anatomy and Histology, Fukushima Medical University School of Medicine, Hikarigaoka, Fukushima 960-1295, Japan.
  • Lehesjoki AE; Folkhälsan Institute of Genetics, Helsinki 00290, Finland; Neuroscience Center, University of Helsinki, Helsinki 00290, Finland; Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki 00290, Finland. Electronic address: anna-elina.lehesjoki@helsinki.fi.
  • Komatsu M; Department of Biochemistry, Niigata University Graduate School of Medical and Dental Sciences, Chuo-ku, Niigata 951-8510, Japan. Electronic address: komatsu-ms@med.niigata-u.ac.jp.
Am J Hum Genet ; 99(3): 683-694, 2016 09 01.
Article en En | MEDLINE | ID: mdl-27545674
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / Proteínas / Ubiquitina / Enzimas Activadoras de Ubiquitina / Alelos / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans / Infant País/Región como asunto: Europa Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article
Texto completo
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Encefalopatías / Proteínas / Ubiquitina / Enzimas Activadoras de Ubiquitina / Alelos / Mutación Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Límite: Animals / Humans / Infant País/Región como asunto: Europa Idioma: En Revista: Am J Hum Genet Año: 2016 Tipo del documento: Article