Gusella JF, MacDonald ME: Huntington’s disease: seeing the pathogenic process through a genetic lens. Trends Biochem Sci. 2006, 31 (9): 533-540. 10.1016/j.tibs.2006.06.009.
Article
CAS
PubMed
Google Scholar
Ross CA, Tabrizi SJ: Huntington’s disease: from molecular pathogenesis to clinical treatment. Lancet Neurol. 2011, 10 (1): 83-98. 10.1016/S1474-4422(10)70245-3.
Article
CAS
PubMed
Google Scholar
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington’s disease chromosomes. Cell. 1993, 72 (6): 971-983. 10.1016/0092-8674(93)90585-E.
DiFiglia M, Sapp E, Chase KO, Davies SW, Bates GP, Vonsattel JP, Aronin N: Aggregation of huntingtin in neuronal intranuclear inclusions and dystrophic neurites in brain. Science. 1997, 277 (5334): 1990-1993. 10.1126/science.277.5334.1990.
Article
CAS
PubMed
Google Scholar
Imarisio S, Carmichael J, Korolchuk V, Chen CW, Saiki S, Rose C, Krishna G, Davies JE, Ttofi E, Underwood BR, et al: Huntington’s disease: from pathology and genetics to potential therapies. Biochem J. 2008, 412 (2): 191-209. 10.1042/BJ20071619.
Article
CAS
PubMed
Google Scholar
Sharp AH, Loev SJ, Schilling G, Li SH, Li XJ, Bao J, Wagster MV, Kotzuk JA, Steiner JP, Lo A, et al: Widespread expression of Huntington’s disease gene (IT15) protein product. Neuron. 1995, 14 (5): 1065-1074. 10.1016/0896-6273(95)90345-3.
Article
CAS
PubMed
Google Scholar
Li H, Li SH, Johnston H, Shelbourne PF, Li XJ: Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity. Nat Genet. 2000, 25 (4): 385-389. 10.1038/78054.
Article
CAS
PubMed
Google Scholar
Singhrao SK, Thomas P, Wood JD, MacMillan JC, Neal JW, Harper PS, Jones AL: Huntingtin protein colocalizes with lesions of neurodegenerative diseases: an investigation in Huntington’s, Alzheimer’s, and Pick’s diseases. Exp Neurol. 1998, 150 (2): 213-222. 10.1006/exnr.1998.6778.
Article
CAS
PubMed
Google Scholar
Shin JY, Fang ZH, Yu ZX, Wang CE, Li SH, Li XJ: Expression of mutant huntingtin in glial cells contributes to neuronal excitotoxicity. J Cell Biol. 2005, 171 (6): 1001-1012. 10.1083/jcb.200508072.
Article
PubMed Central
CAS
PubMed
Google Scholar
Vonsattel JP: Huntington disease models and human neuropathology: similarities and differences. Acta Neuropathol. 2008, 115 (1): 55-69.
Article
PubMed Central
PubMed
Google Scholar
Graveland GA, Williams RS, DiFiglia M: Evidence for degenerative and regenerative changes in neostriatal spiny neurons in Huntington’s disease. Science. 1985, 227 (4688): 770-773. 10.1126/science.3155875.
Article
CAS
PubMed
Google Scholar
Spargo E, Everall IP, Lantos PL: Neuronal loss in the hippocampus in Huntington’s disease: a comparison with HIV infection. J Neurol Neurosurg Psychiatry. 1993, 56 (5): 487-491. 10.1136/jnnp.56.5.487.
Article
PubMed Central
CAS
PubMed
Google Scholar
Margolis RL, Ross CA: Diagnosis of huntington disease. Clin Chem. 2003, 49 (10): 1726-1732. 10.1373/49.10.1726.
Article
CAS
PubMed
Google Scholar
Lee JM RE, Lee JH, Gillis T, Mysore JS, Hayden MR, Warby SC, Morrison PNM, Ross CA, Margolis RL, Squitieri F, Orobello S, Di Donato S, Gomez-Tortosa EAC, Suchowersky O, Trent RJ, McCusker E, Novelletto A, Frontali MJR, Ashizawa T, Frank S, Saint-Hilaire MH, Hersch SM, Rosas HD, Lucente DHM, Zanko A, Abramson RK, Marder K, Sequeiros J, Paulsen JS, on behalf of the PREDICT-HD study of the Huntington Study Group (HSG), Huntington’s LGobotRsotE, Disease Network MRobotH-MSG, Macdonald ME, HSG. GJobotCsot: CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. Neurology. 2012, 78 (1): 690-695. 10.1212/WNL.0b013e318249f683.
PubMed Central
CAS
PubMed
Google Scholar
Ranen NG, Stine OC, Abbott MH, Sherr M, Codori AM, Franz ML, Chao NI, Chung AS, Pleasant N, Callahan C, et al: Anticipation and instability of IT-15 (CAG)n repeats in parent-offspring pairs with Huntington disease. Am J Hum Genet. 1995, 57 (3): 593-602.
PubMed Central
CAS
PubMed
Google Scholar
Andrew SE, Goldberg YP, Kremer B, Telenius H, Theilmann J, Adam S, Starr E, Squitieri F, Lin B, Kalchman MA, et al: The relationship between trinucleotide (CAG) repeat length and clinical features of Huntington’s disease. Nat Genet. 1993, 4 (4): 398-403. 10.1038/ng0893-398.
Article
CAS
PubMed
Google Scholar
Niclis JC, Trounson AO, Dottori M, Ellisdon AM, Bottomley SP, Verlinsky Y, Cram DS: Human embryonic stem cell models of Huntington disease. Reprod Biomed Online. 2009, 19 (1): 106-113. 10.1016/S1472-6483(10)60053-3.
Article
CAS
PubMed
Google Scholar
Bradley CK, Scott HA, Chami O, Peura TT, Dumevska B, Schmidt U, Stojanov T: Derivation of Huntington’s disease-affected human embryonic stem cell lines. Stem Cells Dev. 2011, 20 (3): 495-502. 10.1089/scd.2010.0120.
Article
CAS
PubMed
Google Scholar
Heng MY, Detloff PJ, Albin RL: Rodent genetic models of Huntington disease. Neurobiol Dis. 2008, 32 (1): 1-9. 10.1016/j.nbd.2008.06.005.
Article
CAS
PubMed
Google Scholar
Davies SW, Turmaine M, Cozens BA, DiFiglia M, Sharp AH, Ross CA, Scherzinger E, Wanker EE, Mangiarini L, Bates GP: Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation. Cell. 1997, 90 (3): 537-548. 10.1016/S0092-8674(00)80513-9.
Article
CAS
PubMed
Google Scholar
Ehrnhoefer DE, Wong BK, Hayden MR: Convergent pathogenic pathways in Alzheimer’s and Huntington’s diseases: shared targets for drug development. Nat Rev Drug Discov. 2011, 10 (11): 853-867. 10.1038/nrd3556.
Article
PubMed Central
CAS
PubMed
Google Scholar
Bradford J, Shin JY, Roberts M, Wang CE, Li XJ, Li S: Expression of mutant huntingtin in mouse brain astrocytes causes age-dependent neurological symptoms. Proc Natl Acad Sci U S A. 2009, 106 (52): 22480-22485. 10.1073/pnas.0911503106.
Article
PubMed Central
CAS
PubMed
Google Scholar
Bradford J, Shin JY, Roberts M, Wang CE, Sheng G, Li S, Li XJ: Mutant huntingtin in glial cells exacerbates neurological symptoms of Huntington disease mice. J Biol Chem. 2010, 285 (14): 10653-10661. 10.1074/jbc.M109.083287.
Article
PubMed Central
CAS
PubMed
Google Scholar
Faideau M, Kim J, Cormier K, Gilmore R, Welch M, Auregan G, Dufour N, Guillermier M, Brouillet E, Hantraye P, et al: In vivo expression of polyglutamine-expanded huntingtin by mouse striatal astrocytes impairs glutamate transport: a correlation with Huntington’s disease subjects. Hum Mol Genet. 2010, 19 (15): 3053-3067. 10.1093/hmg/ddq212.
Article
PubMed Central
CAS
PubMed
Google Scholar
Valenza M, Leoni V, Karasinska JM, Petricca L, Fan J, Carroll J, Pouladi MA, Fossale E, Nguyen HP, Riess O, et al: Cholesterol defect is marked across multiple rodent models of Huntington’s disease and is manifest in astrocytes. J Neurosci. 2010, 30 (32): 10844-10850. 10.1523/JNEUROSCI.0917-10.2010.
Article
PubMed Central
CAS
PubMed
Google Scholar
Takahashi K, Yamanaka S: Induction of pluripotent stem cells from mouse embryonic and adult fibroblast cultures by defined factors. Cell. 2006, 126 (4): 663-676. 10.1016/j.cell.2006.07.024.
Article
CAS
PubMed
Google Scholar
Takahashi K, Tanabe K, Ohnuki M, Narita M, Ichisaka T, Tomoda K, Yamanaka S: Induction of pluripotent stem cells from adult human fibroblasts by defined factors. Cell. 2007, 131 (5): 861-872. 10.1016/j.cell.2007.11.019.
Article
CAS
PubMed
Google Scholar
Staerk J, Dawlaty MM, Gao Q, Maetzel D, Hanna J, Sommer CA, Mostoslavsky G, Jaenisch R: Reprogramming of human peripheral blood cells to induced pluripotent stem cells. Cell Stem Cell. 2010, 7 (1): 20-24. 10.1016/j.stem.2010.06.002.
Article
PubMed Central
CAS
PubMed
Google Scholar
Seki T, Yuasa S, Oda M, Egashira T, Yae K, Kusumoto D, Nakata H, Tohyama S, Hashimoto H, Kodaira M, et al: Generation of induced pluripotent stem cells from human terminally differentiated circulating T cells. Cell Stem Cell. 2010, 7 (1): 11-14. 10.1016/j.stem.2010.06.003.
Article
CAS
PubMed
Google Scholar
Thomson JA, Itskovitz-Eldor J, Shapiro SS, Waknitz MA, Swiergiel JJ, Marshall VS, Jones JM: Embryonic stem cell lines derived from human blastocysts. Science. 1998, 282 (5391): 1145-1147.
Article
CAS
PubMed
Google Scholar
Juopperi TA, Song H, Ming GL: Modeling neurological diseases using patient-derived induced pluripotent stem cells. Future Neurol. 2011, 6 (3): 363-373. 10.2217/fnl.11.14.
Article
PubMed Central
PubMed
Google Scholar
Israel MA, Yuan SH, Bardy C, Reyna SM, Mu Y, Herrera C, Hefferan MP, Van Gorp S, Nazor KL, Boscolo FS, et al: Probing sporadic and familial Alzheimer’s disease using induced pluripotent stem cells. Nature. 2012, 482 (7384): 216-220.
PubMed Central
CAS
PubMed
Google Scholar
Mattis VB, Svendsen CN: Induced pluripotent stem cells: a new revolution for clinical neurology?. Lancet Neurol. 2011, 10 (4): 383-394. 10.1016/S1474-4422(11)70022-9.
Article
PubMed
Google Scholar
Yagi T, Ito D, Okada Y, Akamatsu W, Nihei Y, Yoshizaki T, Yamanaka S, Okano H, Suzuki N: Modeling familial Alzheimer’s disease with induced pluripotent stem cells. Hum Mol Genet. 2011, 20 (23): 4530-4539. 10.1093/hmg/ddr394.
Article
CAS
PubMed
Google Scholar
Ming GL, Brustle O, Muotri A, Studer L, Wernig M, Christian KM: Cellular reprogramming: recent advances in modeling neurological diseases. J Neurosci. 2011, 31 (45): 16070-16075. 10.1523/JNEUROSCI.4218-11.2011.
Article
PubMed Central
CAS
PubMed
Google Scholar
Wu H, Xu J, Pang ZP, Ge W, Kim KJ, Blanchi B, Chen C, Sudhof TC, Sun YE: Integrative genomic and functional analyses reveal neuronal subtype differentiation bias in human embryonic stem cell lines. Proc Natl Acad Sci U S A. 2007, 104 (34): 13821-13826. 10.1073/pnas.0706199104.
Article
PubMed Central
CAS
PubMed
Google Scholar
Carpenter M, Rao MS, Freed W, Zeng X: Derivation and characterization of neuronal precursors and dopaminergic neurons from human embryonic stem cells in vitro. Methods Mol Biol. 2006, 331: 153-167.
PubMed
Google Scholar
Vazin T, Chen J, Lee CT, Amable R, Freed WJ: Assessment of stromal-derived inducing activity in the generation of dopaminergic neurons from human embryonic stem cells. Stem Cells. 2008, 26 (6): 1517-1525. 10.1634/stemcells.2008-0039.
Article
PubMed Central
PubMed
Google Scholar
Song HJ, Stevens CF, Gage FH: Neural stem cells from adult hippocampus develop essential properties of functional CNS neurons. Nat Neurosci. 2002, 5 (5): 438-445.
CAS
PubMed
Google Scholar
Ming GL, Song H: Adult neurogenesis in the mammalian brain: significant answers and significant questions. Neuron. 2011, 70 (4): 687-702. 10.1016/j.neuron.2011.05.001.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kabeya Y, Mizushima N, Yamamoto A, Oshitani-Okamoto S, Ohsumi Y, Yoshimori T: LC3, GABARAP and GATE16 localize to autophagosomal membrane depending on form-II formation. J Cell Sci. 2004, 117 (Pt 13): 2805-2812.
Article
CAS
PubMed
Google Scholar
Maherali N, Hochedlinger K: Guidelines and techniques for the generation of induced pluripotent stem cells. Cell Stem Cell. 2008, 3 (6): 595-605. 10.1016/j.stem.2008.11.008.
Article
CAS
PubMed
Google Scholar
Induced pluripotent stem cells from patiwnts with Huntington’s Disease show CAG repeat expansion associated phenotypes. Cell Stem Cell. 2012, In press
Zhang N, An MC, Montoro D, Ellerby LM: Characterization of human Huntington’s disease cell model from induced pluripotent stem cells. PLoS Curr. 2010, 2: RRN1193-
Article
PubMed Central
PubMed
Google Scholar
Soldner F, Hockemeyer D, Beard C, Gao Q, Bell GW, Cook EG, Hargus G, Blak A, Cooper O, Mitalipova M, et al: Parkinson’s disease patient-derived induced pluripotent stem cells free of viral reprogramming factors. Cell. 2009, 136 (5): 964-977. 10.1016/j.cell.2009.02.013.
Article
PubMed Central
CAS
PubMed
Google Scholar
Dimos JT, Rodolfa KT, Niakan KK, Weisenthal LM, Mitsumoto H, Chung W, Croft GF, Saphier G, Leibel R, Goland R, et al: Induced pluripotent stem cells generated from patients with ALS can be differentiated into motor neurons. Science. 2008, 321 (5893): 1218-1221. 10.1126/science.1158799.
Article
CAS
PubMed
Google Scholar
Song H, Stevens CF, Gage FH: Astroglia induce neurogenesis from adult neural stem cells. Nature. 2002, 417 (6884): 39-44. 10.1038/417039a.
Article
CAS
PubMed
Google Scholar
Hamilton NB, Attwell D: Do astrocytes really exocytose neurotransmitters?. Nat Rev Neurosci. 2010, 11 (4): 227-238. 10.1038/nrn2803.
Article
CAS
PubMed
Google Scholar
Di Giorgio FP, Boulting GL, Bobrowicz S, Eggan KC: Human embryonic stem cell-derived motor neurons are sensitive to the toxic effect of glial cells carrying an ALS-causing mutation. Cell Stem Cell. 2008, 3 (6): 637-648. 10.1016/j.stem.2008.09.017.
Article
CAS
PubMed
Google Scholar
Di Giorgio FP, Carrasco MA, Siao MC, Maniatis T, Eggan K: Non-cell autonomous effect of glia on motor neurons in an embryonic stem cell-based ALS model. Nat Neurosci. 2007, 10 (5): 608-614. 10.1038/nn1885.
Article
PubMed Central
CAS
PubMed
Google Scholar
Halliday GM, Stevens CH: Glia: initiators and progressors of pathology in Parkinson’s disease. Mov Disord. 2011, 26 (1): 6-17. 10.1002/mds.23455.
Article
PubMed
Google Scholar
Vincent AJ, Gasperini R, Foa L, Small DH: Astrocytes in Alzheimer’s disease: emerging roles in calcium dysregulation and synaptic plasticity. J Alzheimers Dis. 2010, 22 (3): 699-714.
PubMed
Google Scholar
Wang L, Lin F, Wang J, Wu J, Han R, Zhu L, Difiglia M, Qin Z: Expression of mutant N-terminal huntingtin fragment (htt552-100Q) in astrocytes suppresses the secretion of BDNF. Brain Res. 2012, 1449: 69-82.
Article
CAS
PubMed
Google Scholar
Nagata E, Sawa A, Ross CA, Snyder SH: Autophagosome-like vacuole formation in Huntington’s disease lymphoblasts. Neuroreport. 2004, 15 (8): 1325-1328. 10.1097/01.wnr.0000127073.66692.8f.
Article
PubMed
Google Scholar
Martinez-Vicente M, Talloczy Z, Wong E, Tang G, Koga H, Kaushik S, de Vries R, Arias E, Harris S, Sulzer D, et al: Cargo recognition failure is responsible for inefficient autophagy in Huntington’s disease. Nat Neurosci. 2010, 13 (5): 567-576. 10.1038/nn.2528.
Article
PubMed Central
CAS
PubMed
Google Scholar
Ebert AD, Yu J, Rose FF, Mattis VB, Lorson CL, Thomson JA, Svendsen CN: Induced pluripotent stem cells from a spinal muscular atrophy patient. Nature. 2009, 457 (7227): 277-280. 10.1038/nature07677.
Article
PubMed Central
CAS
PubMed
Google Scholar
Marchetto MC, Carromeu C, Acab A, Yu D, Yeo GW, Mu Y, Chen G, Gage FH, Muotri AR: A model for neural development and treatment of Rett syndrome using human induced pluripotent stem cells. Cell. 2010, 143 (4): 527-539. 10.1016/j.cell.2010.10.016.
Article
PubMed Central
CAS
PubMed
Google Scholar
Lee G, Papapetrou EP, Kim H, Chambers SM, Tomishima MJ, Fasano CA, Ganat YM, Menon J, Shimizu F, Viale A, et al: Modelling pathogenesis and treatment of familial dysautonomia using patient-specific iPSCs. Nature. 2009, 461 (7262): 402-406. 10.1038/nature08320.
Article
PubMed Central
CAS
PubMed
Google Scholar
Chiang CH, Su Y, Wen Z, Yoritomo N, Ross CA, Margolis RL, Song H, Ming GL: Integration-free induced pluripotent stem cells derived from schizophrenia patients with a DISC1 mutation. Mol Psychiatry. 2011, 16 (4): 358-360. 10.1038/mp.2011.13.
Article
PubMed Central
CAS
PubMed
Google Scholar
Ohnuki M, Takahashi K, Yamanaka S: Generation and characterization of human induced pluripotent stem cells. Curr Protoc Stem Cell Biol. 2009, Chapter 4: Unit 4A 2-
PubMed
Google Scholar
Ma DK, Chiang CH, Ponnusamy K, Ming GL, Song H: G9a and Jhdm2a regulate embryonic stem cell fusion-induced reprogramming of adult neural stem cells. Stem Cells. 2008, 26 (8): 2131-2141. 10.1634/stemcells.2008-0388.
Article
PubMed Central
CAS
PubMed
Google Scholar
Prokhorova TA, Harkness LM, Frandsen U, Ditzel N, Schroder HD, Burns JS, Kassem M: Teratoma formation by human embryonic stem cells is site dependent and enhanced by the presence of matrigel. Stem Cells Dev. 2009, 18 (1): 47-54. 10.1089/scd.2007.0266.
Article
CAS
PubMed
Google Scholar
Ge S, Goh EL, Sailor KA, Kitabatake Y, Ming GL, Song H: GABA regulates synaptic integration of newly generated neurons in the adult brain. Nature. 2006, 439 (7076): 589-593. 10.1038/nature04404.
Article
PubMed Central
CAS
PubMed
Google Scholar
Duan X, Chang JH, Ge S, Faulkner RL, Kim JY, Kitabatake Y, Liu XB, Yang CH, Jordan JD, Ma DK, et al: Disrupted-In-Schizophrenia 1 regulates integration of newly generated neurons in the adult brain. Cell. 2007, 130 (6): 1146-1158. 10.1016/j.cell.2007.07.010.
Article
PubMed Central
CAS
PubMed
Google Scholar
Bonaguidi MA, Wheeler MA, Shapiro JS, Stadel RP, Sun GJ, Ming GL, Song H: In vivo clonal analysis reveals self-renewing and multipotent adult neural stem cell characteristics. Cell. 2011, 145 (7): 1142-1155. 10.1016/j.cell.2011.05.024.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kim JY, Liu CY, Zhang F, Duan X, Wen Z, Song J, Feighery E, Lu B, Rujescu D, Clair D, et al: Interplay between DISC1 and GABA signaling regulates neurogenesis in mice and risk for schizophrenia. Cell. 2012, 148 (5): 1051-1064. 10.1016/j.cell.2011.12.037.
Article
PubMed Central
CAS
PubMed
Google Scholar