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RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats.
Yamada, Shizuka B; Gendron, Tania F; Niccoli, Teresa; Genuth, Naomi R; Grosely, Rosslyn; Shi, Yingxiao; Glaria, Idoia; Kramer, Nicholas J; Nakayama, Lisa; Fang, Shirleen; Dinger, Tai J I; Thoeng, Annora; Rocha, Gabriel; Barna, Maria; Puglisi, Joseph D; Partridge, Linda; Ichida, Justin K; Isaacs, Adrian M; Petrucelli, Leonard; Gitler, Aaron D.
Afiliação
  • Yamada SB; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
  • Gendron TF; Department of Biology, Stanford University, Stanford, CA, USA.
  • Niccoli T; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.
  • Genuth NR; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.
  • Grosely R; UK Dementia Research Institute at UCL, UCL Institute of Neurology, London, UK.
  • Shi Y; Department of Genetics, Evolution and Environment, Institute of Healthy Ageing, University College London, London, UK.
  • Glaria I; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
  • Kramer NJ; Department of Biology, Stanford University, Stanford, CA, USA.
  • Nakayama L; Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA, USA.
  • Fang S; Department of Structural Biology, Stanford University School of Medicine, Stanford, CA, USA.
  • Dinger TJI; Department of Stem Cell Biology and Regenerative Medicine, Eli and Edythe Broad Center for Regenerative Medicine and Stem Cell Research, University of Southern California, Los Angeles, CA, USA.
  • Thoeng A; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.
  • Rocha G; UK Dementia Research Institute at UCL, UCL Institute of Neurology, London, UK.
  • Barna M; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
  • Puglisi JD; Stanford Neurosciences Graduate Program, Stanford University School of Medicine, Stanford, CA, USA.
  • Partridge L; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
  • Ichida JK; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
  • Isaacs AM; Department of Genetics, Stanford University School of Medicine, Stanford, CA, USA.
  • Petrucelli L; Department of Biology, Stanford University, Stanford, CA, USA.
  • Gitler AD; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, UK.
Nat Neurosci ; 22(9): 1383-1388, 2019 09.
Article em En | MEDLINE | ID: mdl-31358992
ABSTRACT
Nucleotide repeat expansions in the C9orf72 gene are the most common cause of amyotrophic lateral sclerosis and frontotemporal dementia. Unconventional translation (RAN translation) of C9orf72 repeats generates dipeptide repeat proteins that can cause neurodegeneration. We performed a genetic screen for regulators of RAN translation and identified small ribosomal protein subunit 25 (RPS25), presenting a potential therapeutic target for C9orf72-related amyotrophic lateral sclerosis and frontotemporal dementia and other neurodegenerative diseases caused by nucleotide repeat expansions.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Doenças Neurodegenerativas / Proteína C9orf72 Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas Ribossômicas / Doenças Neurodegenerativas / Proteína C9orf72 Tipo de estudo: Prognostic_studies / Risk_factors_studies Limite: Animals / Humans Idioma: En Ano de publicação: 2019 Tipo de documento: Article