Htt

Summary

Gene Symbol: Htt
Description: huntingtin
Alias: Hdh, huntingtin, HD protein homolog, Huntington disease gene homolog, huntingtin (Huntington disease), huntington disease protein homolog
Species: rat
Products:     Htt

Top Publications

  1. Rigamonti D, Bolognini D, Mutti C, Zuccato C, Tartari M, Sola F, et al. Loss of huntingtin function complemented by small molecules acting as repressor element 1/neuron restrictive silencer element silencer modulators. J Biol Chem. 2007;282:24554-62 pubmed
  2. Trottier Y, Devys D, Imbert G, Saudou F, An I, Lutz Y, et al. Cellular localization of the Huntington's disease protein and discrimination of the normal and mutated form. Nat Genet. 1995;10:104-10 pubmed
    ..To study the HD gene product (huntingtin), we have developed monoclonal antibodies raised against four different regions of the protein...
  3. Gauthier L, Charrin B, Borrell Pages M, Dompierre J, Rangone H, Cordelières F, et al. Huntingtin controls neurotrophic support and survival of neurons by enhancing BDNF vesicular transport along microtubules. Cell. 2004;118:127-38 pubmed
    Polyglutamine expansion (polyQ) in the protein huntingtin is pathogenic and responsible for the neuronal toxicity associated with Huntington's disease (HD)...
  4. Nasir J, Floresco S, O Kusky J, Diewert V, Richman J, Zeisler J, et al. Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes. Cell. 1995;81:811-23 pubmed
    ..To understand its normal function, we have created a targeted disruption in exon 5 of Hdh (Hdhex5), the murine homolog of the HD gene. Homozygotes die before embryonic day 8...
  5. Boutell J, Thomas P, Neal J, Weston V, Duce J, Harper P, et al. Aberrant interactions of transcriptional repressor proteins with the Huntington's disease gene product, huntingtin. Hum Mol Genet. 1999;8:1647-55 pubmed
    We detected an interaction of the N-terminus of huntingtin (htt171) with the C-terminal region of the nuclear receptor co-repressor (N-CoR) using the yeast two-hybrid system...
  6. Duyao M, Auerbach A, Ryan A, Persichetti F, Barnes G, McNeil S, et al. Inactivation of the mouse Huntington's disease gene homolog Hdh. Science. 1995;269:407-10 pubmed
    ..disease (HD) is a dominant neurodegenerative disorder caused by expansion of a CAG repeat in the gene encoding huntingtin, a protein of unknown function...
  7. Li X, Li S, Sharp A, Nucifora F, Schilling G, Lanahan A, et al. A huntingtin-associated protein enriched in brain with implications for pathology. Nature. 1995;378:398-402 pubmed
    ..is an autosomal dominant neurodegenerative disorder caused by an expanding polyglutamine repeat in the IT15 or huntingtin gene...
  8. White J, Auerbach W, Duyao M, Vonsattel J, Gusella J, Joyner A, et al. Huntingtin is required for neurogenesis and is not impaired by the Huntington's disease CAG expansion. Nat Genet. 1997;17:404-10 pubmed
    ..neurodegenerative disorder caused by a CAG repeat expansion that lengthens a glutamine segment in the novel huntingtin protein...
  9. Savas J, Ma B, Deinhardt K, Culver B, Restituito S, Wu L, et al. A role for huntington disease protein in dendritic RNA granules. J Biol Chem. 2010;285:13142-53 pubmed publisher
    ..We recently reported that the Huntington disease protein huntingtin (Htt) associates with Argonaute (Ago) and localizes to cytoplasmic P-bodies, which serve as sites of mRNA ..

More Information

Publications87

  1. Zeitlin S, Liu J, Chapman D, Papaioannou V, Efstratiadis A. Increased apoptosis and early embryonic lethality in mice nullizygous for the Huntington's disease gene homologue. Nat Genet. 1995;11:155-63 pubmed
    The expansion of CAG triplet repeats in the translated region of the human HD gene, encoding a protein (huntingtin) of unknown function, is a dominant mutation leading to manifestation of Huntington's disease...
  2. Chiang M, Chen H, Lee Y, Chang H, Wu Y, Soong B, et al. Dysregulation of C/EBPalpha by mutant Huntingtin causes the urea cycle deficiency in Huntington's disease. Hum Mol Genet. 2007;16:483-98 pubmed
    ..disease (HD) is an autosomal dominant neurodegenerative disease caused by a CAG trinucleotide expansion in the Huntingtin (Htt) gene...
  3. Kirch R, Meyer P, Geisler S, Braun F, Gehrig S, Langen K, et al. Early deficits in declarative and procedural memory dependent behavioral function in a transgenic rat model of Huntington's disease. Behav Brain Res. 2013;239:15-26 pubmed publisher
    ..The transgenic rat model (tgHD) recapitulates many hallmark HD-like symptoms, such as huntingtin aggregates, cellular loss and dysfunction, and motor, and some cognitive deficits...
  4. Wheeler V, White J, Gutekunst C, Vrbanac V, Weaver M, Li X, et al. Long glutamine tracts cause nuclear localization of a novel form of huntingtin in medium spiny striatal neurons in HdhQ92 and HdhQ111 knock-in mice. Hum Mol Genet. 2000;9:503-13 pubmed
    Huntington's disease (HD) is caused by an expanded N-terminal glutamine tract that endows huntingtin with a striatal-selective structural property ultimately toxic to medium spiny neurons...
  5. Clabough E, Zeitlin S. Deletion of the triplet repeat encoding polyglutamine within the mouse Huntington's disease gene results in subtle behavioral/motor phenotypes in vivo and elevated levels of ATP with cellular senescence in vitro. Hum Mol Genet. 2006;15:607-23 pubmed
    b>Huntingtin (htt), the protein encoded by the Huntington's disease (HD) gene, contains a polymorphic stretch of glutamines (polyQ) near its N-terminus. When the polyQ stretch is expanded beyond 37Q, HD results...
  6. Mangiarini L, Sathasivam K, Seller M, Cozens B, Harper A, Hetherington C, et al. Exon 1 of the HD gene with an expanded CAG repeat is sufficient to cause a progressive neurological phenotype in transgenic mice. Cell. 1996;87:493-506 pubmed
    ..This transgenic model will greatly assist in an eventual understanding of the molecular pathology of HD and may open the way to the testing of intervention strategies. ..
  7. Wang L, Lin F, Wu J, Qin Z. High efficiency adenovirus-mediated expression of truncated N-terminal huntingtin fragment (htt552) in primary rat astrocytes. Acta Biochim Biophys Sin (Shanghai). 2009;41:325-34 pubmed
    Huntington's disease (HD) is caused by an expansion of polyglutamine tract in N-terminus of huntingtin (htt). The mutation of htt leads to dysfunction and premature death of striatal and cortical neurons...
  8. von Horsten S, Schmitt I, Nguyen H, Holzmann C, Schmidt T, Walther T, et al. Transgenic rat model of Huntington's disease. Hum Mol Genet. 2003;12:617-24 pubmed
    ..We therefore generated a rat model transgenic of HD, which carries a truncated huntingtin cDNA fragment with 51 CAG repeats under control of the native rat huntingtin promoter...
  9. Difiglia M, Sapp E, Chase K, Schwarz C, Meloni A, Young C, et al. Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons. Neuron. 1995;14:1075-81 pubmed
    The gene defective in Huntington's disease encodes a protein, huntingtin, with unknown function...
  10. Steffan J, Kazantsev A, Spasic Boskovic O, Greenwald M, Zhu Y, Gohler H, et al. The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription. Proc Natl Acad Sci U S A. 2000;97:6763-8 pubmed
    Huntington's Disease (HD) is caused by an expansion of a polyglutamine tract within the huntingtin (htt) protein...
  11. Li H, Li S, Johnston H, Shelbourne P, Li X. Amino-terminal fragments of mutant huntingtin show selective accumulation in striatal neurons and synaptic toxicity. Nat Genet. 2000;25:385-9 pubmed
    Huntington disease (HD) is caused by expansion of a glutamine repeat in the amino-terminal region of huntingtin. Despite its widespread expression, mutant huntingtin induces selective neuronal loss in striatal neurons...
  12. Li S, Gutekunst C, Hersch S, Li X. Interaction of huntingtin-associated protein with dynactin P150Glued. J Neurosci. 1998;18:1261-9 pubmed
    b>Huntingtin is the protein product of the gene for Huntington's disease (HD) and carries a polyglutamine repeat that is expanded in HD (>36 units)...
  13. Gabery S, Sajjad M, Hult S, Soylu R, Kirik D, Petersen A. Characterization of a rat model of Huntington's disease based on targeted expression of mutant huntingtin in the forebrain using adeno-associated viral vectors. Eur J Neurosci. 2012;36:2789-800 pubmed publisher
    Huntington's disease (HD) is a fatal neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin (htt) gene. Neuropathology is most severe in the striatum and cerebral cortex...
  14. Ma B, Savas J, Yu M, Culver B, Chao M, Tanese N. Huntingtin mediates dendritic transport of ?-actin mRNA in rat neurons. Sci Rep. 2011;1:140 pubmed publisher
    ..We recently detected the Huntington's disease protein huntingtin (Htt) in dendritic RNA granules; however, the functional significance of this localization is not known...
  15. Mandal M, Wei J, Zhong P, Cheng J, Duffney L, Liu W, et al. Impaired alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor trafficking and function by mutant huntingtin. J Biol Chem. 2011;286:33719-28 pubmed publisher
    Emerging evidence from studies of Huntington disease (HD) pathophysiology suggests that huntingtin (htt) and its associated protein HAP1 participate in intracellular trafficking and synaptic function...
  16. Godin J, Colombo K, Molina Calavita M, Keryer G, Zala D, Charrin B, et al. Huntingtin is required for mitotic spindle orientation and mammalian neurogenesis. Neuron. 2010;67:392-406 pubmed publisher
    b>Huntingtin is the protein mutated in Huntington's disease, a devastating neurodegenerative disorder. We demonstrate here that huntingtin is essential to control mitosis. Huntingtin is localized at spindle poles during mitosis...
  17. Hogel M, Laprairie R, Denovan Wright E. Promoters are differentially sensitive to N-terminal mutant huntingtin-mediated transcriptional repression. PLoS ONE. 2012;7:e41152 pubmed publisher
    Huntington's disease (HD) is a neurodegenerative disorder caused by the inheritance of one mutant copy of the huntingtin gene. Mutant huntingtin protein (mHtt) contains an expanded polyglutamine repeat region near the N-terminus...
  18. Parker J, Vázquez Manrique R, Tourette C, Farina F, Offner N, Mukhopadhyay A, et al. Integration of ?-catenin, sirtuin, and FOXO signaling protects from mutant huntingtin toxicity. J Neurosci. 2012;32:12630-40 pubmed publisher
    ..Knockdown of ?-catenin enhanced the vulnerability to cell death of mutant-huntingtin striatal cells derived from the HdhQ111 knock-in mice...
  19. Holzmann C, Mäueler W, Petersohn D, Schmidt T, Thiel G, Epplen J, et al. Isolation and characterization of the rat huntingtin promoter. Biochem J. 1998;336 ( Pt 1):227-34 pubmed
    ..Although the huntingtin gene is expressed in neuronal and non-neuronal tissues, the disease affects nerve cells of selected regional ..
  20. Li S, Hosseini S, Gutekunst C, Hersch S, Ferrante R, Li X. A human HAP1 homologue. Cloning, expression, and interaction with huntingtin. J Biol Chem. 1998;273:19220-7 pubmed
    Huntington's disease (HD) is caused by the expansion of a glutamine repeat in the protein huntingtin. The expanded glutamine repeat is thought to mediate a gain of function by causing huntingtin to abnormally interact with other proteins...
  21. Schmitt I, Bächner D, Megow D, Henklein P, Hameister H, Epplen J, et al. Expression of the Huntington disease gene in rodents: cloning the rat homologue and evidence for downregulation in non-neuronal tissues during development. Hum Mol Genet. 1995;4:1173-82 pubmed
    ..In contrast, the expression in non-neuronal tissues is markedly reduced in adult animals and corresponds to the restricted distribution of neuropathologic changes observed in HD patients. ..
  22. Trajkovic K, Jeong H, Krainc D. Mutant Huntingtin Is Secreted via a Late Endosomal/Lysosomal Unconventional Secretory Pathway. J Neurosci. 2017;37:9000-9012 pubmed publisher
    ..autosomal-dominant neurodegenerative disorder caused by the expansion of a CAG triplet in the gene encoding for huntingtin (Htt)...
  23. Trushina E, Dyer R, Badger J, Ure D, Eide L, Tran D, et al. Mutant huntingtin impairs axonal trafficking in mammalian neurons in vivo and in vitro. Mol Cell Biol. 2004;24:8195-209 pubmed
    Recent data in invertebrates demonstrated that huntingtin (htt) is essential for fast axonal trafficking. Here, we provide direct and functional evidence that htt is involved in fast axonal trafficking in mammals...
  24. Manfré G, Novati A, Faccini I, Rossetti A, Bosch K, Molteni R, et al. BACHD rats expressing full-length mutant huntingtin exhibit differences in social behavior compared to wild-type littermates. PLoS ONE. 2018;13:e0192289 pubmed publisher
    ..The BACHD rat model for HD carrying the human full-length mutant huntingtin protein (mHTT) with 97 polyQ repeats has been recently established as a promising model which reproduces several ..
  25. Menalled L, Zanjani H, Mackenzie L, Koppel A, Carpenter E, Zeitlin S, et al. Decrease in striatal enkephalin mRNA in mouse models of Huntington's disease. Exp Neurol. 2000;162:328-42 pubmed
    ..It is caused by the presence of an expanded CAG repeat in the gene encoding huntingtin, a protein of unknown function...
  26. Chen L, Wu J, Wang L, Wang J, Qin Z, DiFiglia M, et al. Rapamycin prevents the mutant huntingtin-suppressed GLT-1 expression in cultured astrocytes. Acta Pharmacol Sin. 2012;33:385-92 pubmed publisher
    To investigate the effects of rapamycin on glutamate uptake in cultured rat astrocytes expressing N-terminal 552 residues of mutant huntingtin (Htt-552).
  27. Kim M, Roh J, Yoon B, Kang L, Kim Y, Aronin N, et al. Huntingtin is degraded to small fragments by calpain after ischemic injury. Exp Neurol. 2003;183:109-15 pubmed
    The gene defect in Huntington's disease (HD) causes a polyglutamine expansion in the N-terminal region of huntingtin (N-htt). In vitro studies suggest that mutant N-htt fragments can aggregate and cause cell death in HD...
  28. van Roon Mom W, Pepers B, t Hoen P, Verwijmeren C, den Dunnen J, Dorsman J, et al. Mutant huntingtin activates Nrf2-responsive genes and impairs dopamine synthesis in a PC12 model of Huntington's disease. BMC Mol Biol. 2008;9:84 pubmed publisher
    ..micro array studies on patient and animal tissue provide valuable information, the primary effect of mutant huntingtin will inevitably be masked by secondary processes in advanced stages of the disease...
  29. Diguet E, Petit F, Escartin C, Cambon K, Bizat N, Dufour N, et al. Normal aging modulates the neurotoxicity of mutant huntingtin. PLoS ONE. 2009;4:e4637 pubmed publisher
    ..In Huntington's disease (HD), a disorder caused by an abnormal expansion of a polyglutamine tract in the protein huntingtin (Htt), the role of aging is unclear...
  30. Lai A, Lan C, Hasan S, Brown M, McLaurin J. scyllo-Inositol promotes robust mutant Huntingtin protein degradation. J Biol Chem. 2014;289:3666-76 pubmed publisher
    Huntington disease is characterized by neuronal aggregates and inclusions containing polyglutamine-expanded huntingtin protein and peptide fragments (polyQ-Htt)...
  31. Meade C, Deng Y, Fusco F, Del Mar N, Hersch S, Goldowitz D, et al. Cellular localization and development of neuronal intranuclear inclusions in striatal and cortical neurons in R6/2 transgenic mice. J Comp Neurol. 2002;449:241-69 pubmed
    ..observed in R6/2 mice were ubiquitinated, and no evidence was observed for a contribution to them from wild-type huntingtin; they were first observed in cortex and striatum at 3.5 weeks of age...
  32. Miller L, Swayne L, Chen L, Feng Z, Wacker J, Muchowski P, et al. Cysteine string protein (CSP) inhibition of N-type calcium channels is blocked by mutant huntingtin. J Biol Chem. 2003;278:53072-81 pubmed
    ..Here we have examined the effects of huntingtin fragments (exon 1) with (huntingtin(exon1/exp)) and without (huntingtin(exon1/nonexp)) expanded polyglutamine (..
  33. Keryer G, Pineda J, Liot G, Kim J, Dietrich P, Benstaali C, et al. Ciliogenesis is regulated by a huntingtin-HAP1-PCM1 pathway and is altered in Huntington disease. J Clin Invest. 2011;121:4372-82 pubmed publisher
    ..It is caused by expansion of a CAG repeat in the first exon of the huntingtin (HTT) gene that encodes a mutant HTT protein with a polyglutamine (polyQ) expansion at the amino terminus...
  34. Nørremølle A, Riess O, Epplen J, Fenger K, Hasholt L, Sørensen S. Trinucleotide repeat elongation in the Huntingtin gene in Huntington disease patients from 71 Danish families. Hum Mol Genet. 1993;2:1475-6 pubmed
    IT15 is a novel gene, localized to chromosome 4, and encoding a protein named Huntingtin. A polymorphic CAG repeat in the proposed open reading frame of IT15 has been characterized, and an elongation of this repeat has been correlated to ..
  35. Zhang Y, Leavitt B, Van Raamsdonk J, Dragatsis I, Goldowitz D, MacDonald M, et al. Huntingtin inhibits caspase-3 activation. EMBO J. 2006;25:5896-906 pubmed
    Huntington's disease results from a mutation in the HD gene encoding for the protein huntingtin. The function of huntingtin, although beginning to be elucidated, remains largely unclear...
  36. Choudhury K, Bhattacharyya N. Chaperone protein HYPK interacts with the first 17 amino acid region of Huntingtin and modulates mutant HTT-mediated aggregation and cytotoxicity. Biochem Biophys Res Commun. 2015;456:66-73 pubmed publisher
    Huntington's disease is a polyglutamine expansion disorder, characterized by mutant HTT-mediated aggregate formation and cytotoxicity...
  37. Ermak G, Hench K, Chang K, Sachdev S, Davies K. Regulator of calcineurin (RCAN1-1L) is deficient in Huntington disease and protective against mutant huntingtin toxicity in vitro. J Biol Chem. 2009;284:11845-53 pubmed publisher
    ..Huntington disease is caused by expansion of glutamine repeats in the huntingtin protein...
  38. Kraft A, Kaltenbach L, Lo D, Harry G. Activated microglia proliferate at neurites of mutant huntingtin-expressing neurons. Neurobiol Aging. 2012;33:621.e17-33 pubmed publisher
    In Huntington's disease (HD), mutated huntingtin (mhtt) causes striatal neurodegeneration which is paralleled by elevated microglia cell numbers...
  39. Wu J, Qi L, Wang Y, Kegel K, Yoder J, DiFiglia M, et al. The regulation of N-terminal Huntingtin (Htt552) accumulation by Beclin1. Acta Pharmacol Sin. 2012;33:743-51 pubmed publisher
    b>Huntingtin protein (Htt) was a neuropathological hallmark in human Huntington's Disease. The study aimed to investigate whether the macroautophagy regulator, Beclin1, was involved in the degradation of Htt...
  40. Xu H, An J, Xu B. Distinct cellular toxicity of two mutant huntingtin mRNA variants due to translation regulation. PLoS ONE. 2017;12:e0177610 pubmed publisher
    Huntington's disease (HD) is a neurodegenerative disorder caused by CAG repeat expansion within exon1 of the HTT gene...
  41. Pardo R, Molina Calavita M, Poizat G, Keryer G, Humbert S, Saudou F. pARIS-htt: an optimised expression platform to study huntingtin reveals functional domains required for vesicular trafficking. Mol Brain. 2010;3:17 pubmed publisher
    b>Huntingtin (htt) is a multi-domain protein of 350 kDa that is mutated in Huntington's disease (HD) but whose function is yet to be fully understood...
  42. Metzler M, Chen N, Helgason C, Graham R, Nichol K, McCutcheon K, et al. Life without huntingtin: normal differentiation into functional neurons. J Neurochem. 1999;72:1009-18 pubmed
    ..HD) is a neurodegenerative disorder associated with polyglutamine expansion in a recently identified protein, huntingtin. Huntingtin is widely expressed and plays a crucial role in development, because gene-targeted HD-/- mouse ..
  43. Ryan A, Zeitlin S, Scrable H. Genetic interaction between expanded murine Hdh alleles and p53 reveal deleterious effects of p53 on Huntington's disease pathogenesis. Neurobiol Dis. 2006;24:419-27 pubmed
    b>Huntingtin, the protein product of the Huntington's disease (HD) gene, is known to interact with the tumor suppressor p53...
  44. Lee J, Park E, Couture G, Harvey I, Garneau P, Pelletier J. An upstream open reading frame impedes translation of the huntingtin gene. Nucleic Acids Res. 2002;30:5110-9 pubmed
    Expansion of a CAG tract within the huntingtin gene, leading to the production of a protein with an expanded polyglutamine tract, is responsible for Huntington's disease...
  45. Tagawa K, Marubuchi S, Qi M, Enokido Y, Tamura T, Inagaki R, et al. The induction levels of heat shock protein 70 differentiate the vulnerabilities to mutant huntingtin among neuronal subtypes. J Neurosci. 2007;27:868-80 pubmed
    ..In this study, we compared the gene expression profiles of three types of primary neurons expressing huntingtin (htt) or ataxin-1...
  46. Kennedy L, Shelbourne P. Dramatic mutation instability in HD mouse striatum: does polyglutamine load contribute to cell-specific vulnerability in Huntington's disease?. Hum Mol Genet. 2000;9:2539-44 pubmed
    ..unstable CAG triplet repeat expansion encoding a polyglutamine stretch within the ubiquitously expressed protein huntingtin is responsible for causing Huntington's disease (HD)...
  47. Luo S, Rubinsztein D. Huntingtin promotes cell survival by preventing Pak2 cleavage. J Cell Sci. 2009;122:875-85 pubmed publisher
    Huntington's disease is caused by a polyglutamine expansion in the huntingtin protein. Wild-type huntingtin, by contrast, appears to protect cells from pro-apoptotic insults. Here we describe a novel anti-apoptotic function for huntingtin...
  48. Sahlender D, Roberts R, Arden S, Spudich G, Taylor M, Luzio J, et al. Optineurin links myosin VI to the Golgi complex and is involved in Golgi organization and exocytosis. J Cell Biol. 2005;169:285-95 pubmed
    ..Two further binding partners for optineurin have been identified: huntingtin and Rab8...
  49. Brooks S, Betteridge H, Trueman R, Jones L, Dunnett S. Selective extra-dimensional set shifting deficit in a knock-in mouse model of Huntington's disease. Brain Res Bull. 2006;69:452-7 pubmed
    ..The aim of the present paper then, was to test whether homozygous knock-in mice derived from the Hdh(CAG(150)) mouse line were impaired in any of five 2-choice discrimination tasks (simple, compound, compound ..
  50. Raychaudhuri S, Sinha M, Mukhopadhyay D, Bhattacharyya N. HYPK, a Huntingtin interacting protein, reduces aggregates and apoptosis induced by N-terminal Huntingtin with 40 glutamines in Neuro2a cells and exhibits chaperone-like activity. Hum Mol Genet. 2008;17:240-55 pubmed
    Expansion of polymorphic glutamine (Q) numbers present at the protein Huntingtin (Htt) beyond 36Q results in its misfolding and aggregation, and the aggregates recruit several other proteins...
  51. Mazurová Y, Anderova M, Němečková I, Bezrouk A. Transgenic rat model of Huntington's disease: a histopathological study and correlations with neurodegenerative process in the brain of HD patients. Biomed Res Int. 2014;2014:291531 pubmed publisher
    ..To the best of our knowledge, our findings are the first to document that tgHD51 CAG rats can be used as a valid animal model for detailed histopathological studies related to HD in human. ..
  52. Tatter S, Galpern W, Hoogeveen A, Isacson O. Effects of striatal excitotoxicity on huntingtin-like immunoreactivity. Neuroreport. 1995;6:1125-9 pubmed
    ..This finding suggests that huntington may be involved in the response to excitotoxic stress in these neurons. ..
  53. Rui Y, Xu Z, Patel B, Chen Z, Chen D, Tito A, et al. Huntingtin functions as a scaffold for selective macroautophagy. Nat Cell Biol. 2015;17:262-75 pubmed publisher
    ..Here, we demonstrate that Huntingtin, the Huntington disease gene product, functions as a scaffold protein for selective macroautophagy but it is ..
  54. Strong T, Tagle D, Valdes J, Elmer L, Boehm K, Swaroop M, et al. Widespread expression of the human and rat Huntington's disease gene in brain and nonneural tissues. Nat Genet. 1993;5:259-65 pubmed
    ..HD mRNA was also expressed in colon, liver, pancreas and testes. The regional specificity of neuropathology in HD, which is most prominent in the basal ganglia, thus cannot be accounted for by the pattern of expression of HD. ..
  55. Herrera F, Outeiro T. ?-Synuclein modifies huntingtin aggregation in living cells. FEBS Lett. 2012;586:7-12 pubmed publisher
    ..we used a bimolecular fluorescence complementation assay to study the initial steps of the co-aggregation of huntingtin (Htt) and ?-synuclein (?-syn), two aggregation-prone proteins involved in Huntington's disease (HD) and ..
  56. Brustovetsky N, LaFrance R, Purl K, Brustovetsky T, Keene C, Low W, et al. Age-dependent changes in the calcium sensitivity of striatal mitochondria in mouse models of Huntington's Disease. J Neurochem. 2005;93:1361-70 pubmed
    Striatal and cortical mitochondria from knock-in and transgenic mutant huntingtin mice were examined for their sensitivity to calcium induction of the permeability transition, a cause of mitochondrial depolarization and ATP loss...
  57. Shelbourne P, Killeen N, Hevner R, Johnston H, Tecott L, Lewandoski M, et al. A Huntington's disease CAG expansion at the murine Hdh locus is unstable and associated with behavioural abnormalities in mice. Hum Mol Genet. 1999;8:763-74 pubmed
    ..the disease, we introduced an HD-like mutation (an extended stretch of 72-80 CAG repeats) into the endogenous mouse Hdh gene...
  58. Zimdahl H, Gosele C, Lütjens G, Grutzner F, Kreitler T, Voss K, et al. Assignment of the huntingtin (Hdh) gene, the huntingtin associated protein (Hap1) gene, and the huntingtin interacting protein (Hip1) gene to rat chromosomes 14, 10, and 12 by radiation hybrid mapping and fluorescent in situ hybridization. Cytogenet Cell Genet. 2001;94:101-4 pubmed
  59. Omi K, Hachiya N, Tokunaga K, Kaneko K. siRNA-mediated inhibition of endogenous Huntington disease gene expression induces an aberrant configuration of the ER network in vitro. Biochem Biophys Res Commun. 2005;338:1229-35 pubmed
    b>Huntingtin is a ubiquitously expressed cytoplasmic protein encoded by the Huntington disease (HD) gene, in which a CAG expansion induces an autosomal dominant progressive neurodegenerative disorder; however, its biological function has ..
  60. Cornett J, Cao F, Wang C, Ross C, Bates G, Li S, et al. Polyglutamine expansion of huntingtin impairs its nuclear export. Nat Genet. 2005;37:198-204 pubmed
    ..The mechanism by which mutant huntingtin (htt) accumulates intranuclearly is not known; wild-type htt, a 350-kDa protein of unknown function, is normally ..
  61. Guidetti P, Bates G, Graham R, Hayden M, Leavitt B, MacDonald M, et al. Elevated brain 3-hydroxykynurenine and quinolinate levels in Huntington disease mice. Neurobiol Dis. 2006;23:190-7 pubmed
    ..increased in the striatum and cortex of the full-length HD models, beginning at 8 months (YAC128) and 15 months (Hdh(Q92) and Hdh(Q111)), respectively...
  62. Chakrabortee S, Tripathi R, Watson M, Schierle G, Kurniawan D, Kaminski C, et al. Intrinsically disordered proteins as molecular shields. Mol Biosyst. 2012;8:210-9 pubmed publisher
    ..It seems clear therefore that molecular shield function is largely an intermolecular activity implemented by specialist IDPs, distinct from molecular chaperones, but with a role in proteostasis. ..
  63. Reiner A, Del Mar N, Meade C, Yang H, Dragatsis I, Zeitlin S, et al. Neurons lacking huntingtin differentially colonize brain and survive in chimeric mice. J Neurosci. 2001;21:7608-19 pubmed
    To determine whether neurons lacking huntingtin can participate in development and survive in postnatal brain, we used two approaches in an effort to create mice consisting of wild-type cells and cells without huntingtin...
  64. Liu W, Chaurette J, Pfister E, Kennington L, Chase K, Bullock J, et al. Increased Steady-State Mutant Huntingtin mRNA in Huntington's Disease Brain. J Huntingtons Dis. 2013;2:491-500 pubmed publisher
    Huntington's disease is caused by expansion of CAG trinucleotide repeats in the first exon of the huntingtin gene, which is essential for both development and neurogenesis. Huntington's disease is autosomal dominant...
  65. Shao J, Welch W, DiProspero N, Diamond M. Phosphorylation of profilin by ROCK1 regulates polyglutamine aggregation. Mol Cell Biol. 2008;28:5196-208 pubmed publisher
    ..The downstream targets that mediate its inhibitory effects on huntingtin (Htt) aggregation and toxicity are unknown...
  66. Hurlbert M, Zhou W, Wasmeier C, Kaddis F, Hutton J, Freed C. Mice transgenic for an expanded CAG repeat in the Huntington's disease gene develop diabetes. Diabetes. 1999;48:649-51 pubmed
    ..syndrome of Huntington's disease has been modeled in transgenic mice by the expression of a portion of the human huntingtin gene together with 140 CAG repeats (the R6/2 strain)...
  67. Apostol B, Illes K, Pallos J, Bodai L, Wu J, Strand A, et al. Mutant huntingtin alters MAPK signaling pathways in PC12 and striatal cells: ERK1/2 protects against mutant huntingtin-associated toxicity. Hum Mol Genet. 2006;15:273-85 pubmed
    ..HD) is a devastating neurodegenerative disorder caused by an expanded polyglutamine (polyQ) tract within the huntingtin protein (Htt)...
  68. Liu Y, Dorow D, Marshall J. Activation of MLK2-mediated signaling cascades by polyglutamine-expanded huntingtin. J Biol Chem. 2000;275:19035-40 pubmed
    We previously reported that expression of polyglutamine-expanded huntingtin induces apoptosis via c-Jun amino-terminal kinase (JNK) activation in HN33 cells (Liu, Y. F. (1998) J. Biol. Chem. 273, 28873-28822)...
  69. Dragatsis I, Levine M, Zeitlin S. Inactivation of Hdh in the brain and testis results in progressive neurodegeneration and sterility in mice. Nat Genet. 2000;26:300-6 pubmed
    ..On the basis of these results, we propose that huntingtin is required for neuronal function and survival in the brain and that a loss-of-function mechanism may contribute ..
  70. Kim S, Chung J, Im W, Kim M. Calpain cleaved-55kDa N-terminal huntingtin delocalizes from neurons to astrocytes after ischemic injury. Cell Mol Biol (Noisy-le-grand). 2011;57 Suppl:OL1534-42 pubmed
    The huntingtin (htt) mutation causes a polyglutamine expansion in the N-terminal region of protein. Mutant N-htt proteolytic fragments aggregate and cause cell death in Huntington's disease (HD)...
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    Expansion of the polyglutamine (polyQ) track of the Huntingtin (HTT) protein above 36 is associated with a sharply enhanced risk of Huntington's disease (HD)...
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    ..correlates with an increased aggregation propensity of a polyglutamine (polyQ) expansion in exon 1 of mutant huntingtin protein (mHtt)...
  73. Ross C, Tabrizi S. Huntington's disease: from molecular pathogenesis to clinical treatment. Lancet Neurol. 2011;10:83-98 pubmed publisher
    Huntington's disease is a progressive, fatal, neurodegenerative disorder caused by an expanded CAG repeat in the huntingtin gene, which encodes an abnormally long polyglutamine repeat in the huntingtin protein...
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    ..These results suggest that the normal role of ataxin-1 may be in RNA processing, perhaps nuclear RNA export. Thus, nuclear retention of mutant ataxin-1 may be an important toxic gain of function in SCA1 disease. ..
  75. Usdin M, Shelbourne P, Myers R, Madison D. Impaired synaptic plasticity in mice carrying the Huntington's disease mutation. Hum Mol Genet. 1999;8:839-46 pubmed
    ..Mice engineered to carry the HD mutation in the endogenous huntingtin gene showed a significant reduction in long-term potentiation (LTP), a measure of synaptic plasticity often ..
  76. Lu J, Sun F, Ma H, Qing H, Deng Y. Comparison between α-synuclein wild-type and A53T mutation in a progressive Parkinson's disease model. Biochem Biophys Res Commun. 2015;464:988-93 pubmed publisher
    ..The result of comparison between the two types of α-synuclein showed that A53T mutated α-synuclein was more effective to establish PD model, and the model based A53T mutated α-synuclein was a suitable model to early-onset PD. ..
  77. Hoffner G, Kahlem P, Djian P. Perinuclear localization of huntingtin as a consequence of its binding to microtubules through an interaction with beta-tubulin: relevance to Huntington's disease. J Cell Sci. 2002;115:941-8 pubmed
    Huntington's disease results from an expansion of a series of glutamine repeats in the protein huntingtin. We have discovered from immunopurification studies that huntingtin combines specifically with the beta subunit of tubulin...
  78. Kumar U. Differential expression of Huntington's disease gene (IT15) mRNA in developing rat brain. Brain Res Mol Brain Res. 2004;128:39-47 pubmed
    ..These results also suggest that the degree of IT15 mRNA expression is related to the neuronal population in different brain regions. ..