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A budding yeast model for human disease mutations in the EXOSC2 cap subunit of the RNA exosome complex

  • MARIA C. STERRETT
  • , LIZ ENYENIHI
  • , SARA W. LEUNG
  • , LAURIE HESS
  • , SARAH E. STRASSLER
  • , DANIELA FARCHI
  • , RICHARD S. LEE
  • , ELISE S. WITHERS
  • , ISAAC KREMSKY
  • , RICHARD E. BAKER
  • , MUNIRA A. BASRAI
  • , AMBRO VAN HOOF
  • , MILO B. FASKEN
  • , ANITA H. CORBETT

Research output: Contribution to journalArticlepeer-review

Original languageEnglish
Pages (from-to)1046-1067
Number of pages22
JournalRNA
Volume27
Issue number9
DOIs
StatePublished - Sep 2021

ASJC Scopus Subject Areas

  • Molecular Biology

Keywords

  • EXOSC2
  • Exosomopathy
  • RNA decay/processing
  • RNA exosome
  • Rrp4
  • Aspartic Acid/chemistry
  • Retinitis Pigmentosa/enzymology
  • Saccharomyces cerevisiae Proteins/chemistry
  • Humans
  • Mutation, Missense
  • Exosome Multienzyme Ribonuclease Complex/chemistry
  • Facies
  • Hearing Loss/enzymology
  • Exoribonucleases/chemistry
  • Dwarfism/enzymology
  • Amino Acid Sequence
  • Gene Expression
  • RNA-Binding Proteins/chemistry
  • Models, Molecular
  • Glycine/chemistry
  • Syndrome
  • Saccharomyces cerevisiae/enzymology
  • Sequence Homology, Amino Acid
  • Models, Biological
  • RNA, Fungal/chemistry
  • Protein Conformation
  • Amino Acid Substitution

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