J
Jacqueline G. O’Rourke
Researcher at Cedars-Sinai Medical Center
Publications - 15
Citations - 2365
Jacqueline G. O’Rourke is an academic researcher from Cedars-Sinai Medical Center. The author has contributed to research in topics: Huntingtin & C9orf72 Protein. The author has an hindex of 10, co-authored 15 publications receiving 1903 citations. Previous affiliations of Jacqueline G. O’Rourke include University of California, Irvine.
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Journal ArticleDOI
Targeting RNA Foci in iPSC-Derived Motor Neurons from ALS Patients with a C9ORF72 Repeat Expansion
Dhruv Sareen,Jacqueline G. O’Rourke,Pratap Meera,A. K. M. G. Muhammad,Sharday Grant,Megan Simpkinson,Shaughn Bell,Sharon Carmona,Loren Ornelas,Anais Sahabian,Tania F. Gendron,Leonard Petrucelli,Michael Baughn,John Ravits,Matthew B. Harms,Frank Rigo,C. Frank Bennett,Thomas S. Otis,Clive N. Svendsen,Robert H. Baloh +19 more
TL;DR: Findings support the idea that the buildup of “toxic” RNA containing the GGGGCC repeat contributes to the death of motor neurons in ALS, and suggest that antisense oligonucleotides targeting this transcript may be a strategy for treating ALS patients with the C9ORF72 repeat expansion.
Journal ArticleDOI
C9orf72 is required for proper macrophage and microglial function in mice
Jacqueline G. O’Rourke,Laurent P. Bogdanik,Alberto Yáñez,Deepti Lall,Andrea J. Wolf,A. K. M. G. Muhammad,Ritchie Ho,Sharon Carmona,Jean-Philippe Vit,Jonah Zarrow,Kevin J. Kim,Shaughn Bell,Matthew B. Harms,Timothy M. Miller,C. A. Dangler,David M. Underhill,Helen S. Goodridge,Cathleen M. Lutz,Robert H. Baloh +18 more
TL;DR: It is found that two independent mouse lines lacking the C9orf72 ortholog in all tissues developed normally and aged without motor neuron disease, and altered microglial function may contribute to neurodegeneration in C 9orf72 expansion carriers.
Journal ArticleDOI
IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome
Leslie M. Thompson,Charity T. Aiken,Linda S. Kaltenbach,Namita Agrawal,Katalin Illes,Ali Khoshnan,Marta Martinez-Vincente,Montserrat Arrasate,Jacqueline G. O’Rourke,Hasan Khashwji,Tamas Lukacsovich,Ya-Zhen Zhu,Alice L. Lau,Ashish C. Massey,Michael R. Hayden,Scott Zeitlin,Steven Finkbeiner,Kim N. Green,Frank M. LaFerla,Gillian P. Bates,Lan Huang,Paul H. Patterson,Donald C. Lo,Ana Maria Cuervo,J. Lawrence Marsh,Joan S. Steffan +25 more
TL;DR: The protein mutated in Huntington's disease is phosphorylated by the inflammatory kinase IKK, which promotes other post-translational modifications, and protein degradation.
Journal ArticleDOI
C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD.
Jacqueline G. O’Rourke,Laurent P. Bogdanik,A. K. M. G. Muhammad,Tania F. Gendron,Kevin J. Kim,Andrew Austin,Janet Cady,Elaine Liu,Jonah Zarrow,Sharday Grant,Ritchie Ho,Shaughn Bell,Sharon Carmona,Megan Simpkinson,Deepti Lall,Kathryn Wu,Lillian M. Daughrity,Dennis W. Dickson,Matthew B. Harms,Leonard Petrucelli,Edward B. Lee,Cathleen M. Lutz,Robert H. Baloh +22 more
TL;DR: In this article, the authors report transgenic mice carrying a bacterial artificial chromosome (BAC) containing the full human C9orf72 gene with either a normal allele (15 repeats) or disease-associated expansion (∼100-1,000 repeats; C9-BACexp).
Journal Article
C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD (P4.001)
Robert H. Baloh,Jacqueline G. O’Rourke,Shaughn Bell,Laurent Bogdonik,A. K. M. G. Muhammad,Tania F. Gendron,Kevin J. Kim,Andrew Austin,Janet Cady,Elaine Liu,Jonah Zarrow,Sharday Grant,Ritchie Ho,Sharon Carmona,Megan Simpkinson,Kathryn Wu,Lillian M. Daughrity,Dennis W. Dickson,Matthew B. Harms,Leonard Petrucelli,Cathleen M. Lutz +20 more
TL;DR: Transgenic mice carrying a bacterial artificial chromosome containing the full human C9orf72 gene with either a normal allele (15 repeats) or disease-associated expansion (∼100-1,000 repeats; C9-BACexp) are reported, supporting the hypothesis that RNA foci and RAN dipeptides occur presymptomatically and are not sufficient to drive neurodegeneration in mice at levels seen in patients.