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MATR3 pathogenic variants differentially impair its cryptic splicing repression function.
Khan, Mashiat; Chen, Xiao Xiao Lily; Dias, Michelle; Santos, Jhune Rizsan; Kour, Sukhleen; You, Justin; van Bruggen, Rebekah; Youssef, Mohieldin M M; Wan, Ying-Wooi; Liu, Zhandong; Rosenfeld, Jill A; Tan, Qiumin; Pandey, Udai Bhan; Yalamanchili, Hari Krishna; Park, Jeehye.
Afiliação
  • Khan M; Department of Molecular Genetics, University of Toronto, Canada.
  • Chen XXL; Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada.
  • Dias M; Department of Molecular Genetics, University of Toronto, Canada.
  • Santos JR; Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada.
  • Kour S; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.
  • You J; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.
  • van Bruggen R; Department of Molecular Genetics, University of Toronto, Canada.
  • Youssef MMM; Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada.
  • Wan YW; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.
  • Liu Z; Department of Molecular Genetics, University of Toronto, Canada.
  • Rosenfeld JA; Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada.
  • Tan Q; Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada.
  • Pandey UB; Peter Gilgan Centre for Research and Learning, The Hospital for Sick Children, Toronto, Canada.
  • Yalamanchili HK; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.
  • Park J; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
FEBS Lett ; 598(4): 415-436, 2024 Feb.
Article em En | MEDLINE | ID: mdl-38320753

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esclerose Lateral Amiotrófica Limite: Humans Idioma: En Revista: FEBS Lett Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Canadá

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Esclerose Lateral Amiotrófica Limite: Humans Idioma: En Revista: FEBS Lett Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Canadá