Induced Pluripotent Stem Cells from Patients with Huntington’s Disease : Show CAG Repeat-Expansion-Associated Phenotypes
Virginia B. Mattis,Soshana P. Svendsen,Allison D. Ebert,Clive N. Svendsen,Alvin R. King,Malcolm Casale,Sara T. Winokur,Gayani Batugedara,Marquis P. Vawter,Peter J. Donovan,Leslie F. Lock,Leslie M. Thompson,Yu Zhu,Elisa Fossale,Ranjit Singh Atwal,Tammy Gillis,Jayalakshmi S. Mysore,Jian Hong Li,Ihn Sik Seong,Yiping Shen,Xiaoli Chen,Vanessa C. Wheeler,Marcy E. MacDonald,James F. Gusella,Sergey S Akimov,Nicolas Arbez,Tarja A. Juopperi,Tamara Ratovitski,Jason H. Chiang,Woon Roung Kim,Eka Chighladze,Erin Watkin,Chun Zhong,Georgia Makri,Robert N. Cole,Russell L. Margolis,Hongjun Song,Guo Li Ming,Christopher A. Ross,Julia A. Kaye,Julia A. Kaye,Aaron C. Daub,Aaron C. Daub,Punita Sharma,Punita Sharma,Amanda R. Mason,Amanda R. Mason,Steven Finkbeiner,Steven Finkbeiner,Junying Yu,James A. Thomson,David Rushton,Stephen P. Brazier,Alysia Battersby,Amanda Redfern,Hsui Er Tseng,Alexander William John Harrison,Paul J. Kemp,Nicholas D. Allen,Marco Onorati,Valentina Castiglioni,Elena Cattaneo,Jamshid Arjomand +62 more
TLDR
The generation and characterization of 14 induced pluripotent stem cell (iPSC) lines from HD patients and controls reveal CAG-repeat-expansion-associated gene expression patterns that distinguish patient lines from controls, and early onset versus late onset HD.About:
This article is published in Cell Stem Cell.The article was published on 2012-08-03 and is currently open access. It has received 429 citations till now. The article focuses on the topics: Trinucleotide repeat expansion & Huntington's disease.read more
Citations
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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
Modeling key pathological features of frontotemporal dementia with C9ORF72 repeat expansion in iPSC-derived human neurons
Sandra Almeida,Eduardo Gascon,Helene Tran,Hsin-Jung Chou,Tania F. Gendron,Steven R. DeGroot,Andrew R. Tapper,Chantal Sellier,Nicolas Charlet-Berguerand,Anna Karydas,William W. Seeley,Adam L. Boxer,Leonard Petrucelli,Bruce L. Miller,Fen-Biao Gao +14 more
TL;DR: Key neuropathological features of FTD/ALS with GGGGCC repeat expansions can be recapitulated in iPSC-derived human neurons and also suggest that compromised autophagy function may represent a novel underlying pathogenic mechanism.
Journal ArticleDOI
Inhibition of mitochondrial fragmentation diminishes Huntington’s disease–associated neurodegeneration
TL;DR: Data indicate that inhibition of DRP1-dependent excessive mitochondrial fission with a P110-TAT-like inhibitor may prevent or slow the progression of HD.
Journal ArticleDOI
Generation of Human Striatal Neurons by MicroRNA-Dependent Direct Conversion of Fibroblasts
Matheus B. Victor,Michelle Richner,Tracey O. Hermanstyne,Joseph L. Ransdell,Courtney Sobieski,Pan Yue Deng,Vitaly A. Klyachko,Jeanne M. Nerbonne,Andrew S. Yoo +8 more
TL;DR: It is shown that coexpression of miR-9/9*-124 with transcription factors enriched in the developing striatum, BCL11B,DLX1, DLX2, and MYT1L, can guide the conversion of human postnatal and adult fibroblasts into an enriched population of neurons analogous to striatal medium spiny neurons (MSNs).
Journal ArticleDOI
Use of Differentiated Pluripotent Stem Cells in Replacement Therapy for Treating Disease
Ira J. Fox,George Q. Daley,George Q. Daley,Steven A. Goldman,Steven A. Goldman,Johnny Huard,Timothy J. Kamp,Massimo Trucco +7 more
TL;DR: The extent to which hematopoietic stem cell transplantation and cell therapy for diabetes, liver disease, muscular dystrophies, neurodegenerative disorders, and heart disease would be affected by the availability of precisely differentiated PSCs is examined.
References
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Journal ArticleDOI
Induction of Pluripotent Stem Cells from Adult Human Fibroblasts by Defined Factors
Kazutoshi Takahashi,Koji Tanabe,Mari Ohnuki,Megumi Narita,Tomoko Ichisaka,Kiichiro Tomoda,Shinya Yamanaka +6 more
TL;DR: It is demonstrated that iPS cells can be generated from adult human fibroblasts with the same four factors: Oct3/4, Sox2, Klf4, and c-Myc.
Journal ArticleDOI
Induced Pluripotent Stem Cell Lines Derived from Human Somatic Cells
Junying Yu,Maxim A. Vodyanik,Kim Smuga-Otto,Jessica Antosiewicz-Bourget,Jennifer L. Frane,Shulan Tian,Jeff Nie,Gudrun A. Jonsdottir,Victor Ruotti,Ron Stewart,Igor I. Slukvin,James A. Thomson +11 more
TL;DR: This article showed that OCT4, SOX2, NANOG, and LIN28 factors are sufficient to reprogram human somatic cells to pluripotent stem cells that exhibit the essential characteristics of embryonic stem (ES) cells.
Journal ArticleDOI
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
Marcy E. MacDonald,Christine Ambrose,Mabel P. Duyao,Richard H. Myers,Carol Lin,Lakshmi Srinidhi,Glenn Barnes,Sherryl A.M. Taylor,Marianne James,Nicolet Groot,Heather MacFarlane,Barbara Jenkins,Mary Anne Anderson,Nancy S. Wexler,James F. Gusella,Gillian P. Bates,Sarah Baxendale,Holger Hummerich,Susan F. Kirby,Mike North,S. Youngman,Richard Mott,Günther Zehetner,Zdenek Sedlacek,Annemarie Poustka,Anna-Maria Frischauf,Hans Lehrach,Alan Buckler,Deanna M. Church,Lynn Doucette-Stamm,Michael Conlon O'Donovan,Laura Riba-Ramirez,Manish A. Shah,Vincent P. Stanton,Scott A. Strobel,Karen M. Draths,Jennifer L. Wales,Peter B. Dervan,David E. Housman,Michael R. Altherr,Rita Shiang,Leslie M. Thompson,Thomas J. Fielder,John J. Wasmuth,Danilo A. Tagle,John Valdes,Lawrence W. Elmer,Marc W. Allard,Lucio H. Castilla,Manju Swaroop,Kris Blanchard,Francis S. Collins,Russell G. Snell,Tracey Holloway,Kathleen Gillespie,Nicole A. Datson,Duncan Shaw,Peter S. Harper +57 more
TL;DR: In this article, the authors used haplotype analysis of linkage disequilibrium to spotlight a small segment of 4p16.3 as the likely location of the defect, which is expanded and unstable on HD chromosomes.
Journal Article
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group.
Manish A. Shah,Nicole A. Datson,Lakshmi Srinidhi,Vincent P. Stanton,Marcy E. MacDonald,Marc W. Allard,S. Youngman,Anna-Maria Frischauf,Richard Mott,KM Draths,Günther Zehetner,C. O’Donovan,Thomas J. Fielder,Bruce G. Jenkins,Manju Swaroop,Sherryl A.M. Taylor,Lynn Doucette-Stamm,Heather MacFarlane,Scott A. Strobel,H. E. McFarlane,Alan Buckler,Nicolet Groot,Holger Hummerich,Deanna M. Church,M. A. Anderson,Marianne James,Glenn Barnes,M. Christine,Francis S. Collins,Mabel P. Duyao,Peter B. Dervan,Gillian P. Bates,T Holloway,Peter S. Harper,TW Mcdonald,M North,K Blanchard,John J. Wasmuth,D. Shaw,Hans Lehrach,Danilo A. Tagle,Annemarie Poustka,David E. Housman,T. Huntington,Zdenek Sedlacek,Laura Riba,Susan F. Kirby,Carol Lin,Richard H. Myers,Leslie M. Thompson,Russell G. Snell,Michael Conlon O'Donovan,K Gillespie,Rita Shiang,Nancy S. Wexler,Christine Ambrose,J. F. Gusella,Sarah Baxendale,N. Groat,John Valdes +59 more
TL;DR: The Huntington's disease mutation involves an unstable DNA segment, similar to those described in fragile X syndrome, spino-bulbar muscular atrophy, and myotonic dystrophy, acting in the context of a novel 4p16.3 gene to produce a dominant phenotype.
Supporting Online Material for Induced Pluripotent Stem Cell Lines Derived from Human Somatic Cells
Junying Yu,Maxim A. Vodyanik,Kim Smuga-Otto,Jessica Antosiewicz-Bourget,Jennifer L. Frane,Shulan Tian,Jeff Nie,Gudrun A. Jonsdottir,Victor Ruotti,Ron M. Stewart,Igor I. Slukvin,James A. Thomson +11 more
TL;DR: Yu et al. as discussed by the authors proposed online material for induced pluripotent stem cell lines derived from human Somatic Cells, which can be used for transplanting human stem cells to humans.
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A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
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