S
Shaughn Bell
Researcher at Cedars-Sinai Medical Center
Publications - 19
Citations - 3259
Shaughn Bell is an academic researcher from Cedars-Sinai Medical Center. The author has contributed to research in topics: Neurodegeneration & Amyotrophic lateral sclerosis. The author has an hindex of 11, co-authored 16 publications receiving 2621 citations. Previous affiliations of Shaughn Bell include Washington University in St. Louis.
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Journal ArticleDOI
TDP-43 mutant transgenic mice develop features of ALS and frontotemporal lobar degeneration
TL;DR: The results indicate that the cellular and molecular substrates for selective vulnerability in FTLD-U and ALS are shared between mice and humans, and suggest that altered DNA/RNA-binding protein function, rather than toxic aggregation, is central to TDP-43-related neurodegeneration.
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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.
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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.
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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).
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Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy
Matthew B. Harms,Kassandra M. Ori-McKenney,Mariacristina Scoto,E.P. Tuck,Shaughn Bell,Duanduan Ma,S. Masi,Peggy Allred,M. Al-Lozi,Mary M. Reilly,Lindsey J. Miller,Agnes Jani-Acsadi,Alan Pestronk,Michael E. Shy,Francesco Muntoni,Richard B. Vallee,Robert H. Baloh +16 more
TL;DR: It is demonstrated that mutations in the tail domain of the heavy chain of cytoplasmic dynein (DYNC1H1) cause spinal muscular atrophy and provided experimental evidence that a human DYNC 1H1 mutation disrupts dyne in complex assembly and function.