huntingtin

Summary

Gene Symbol: huntingtin
Description: huntingtin
Alias: IT15, LOMARS, huntingtin, huntington disease protein
Species: human
Products:     huntingtin

Top Publications

  1. Pouladi M, Xie Y, Skotte N, Ehrnhoefer D, Graham R, Kim J, et al. Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression. Hum Mol Genet. 2010;19:1528-38 pubmed publisher
    Levels of full-length huntingtin (FL htt) influence organ and body weight, independent of polyglutamine length...
  2. Khoshnan A, Ko J, Tescu S, Brundin P, Patterson P. IKKalpha and IKKbeta regulation of DNA damage-induced cleavage of huntingtin. PLoS ONE. 2009;4:e5768 pubmed publisher
    Proteolysis of huntingtin (Htt) plays a key role in the pathogenesis of Huntington's disease (HD). However, the environmental cues and signaling pathways that regulate Htt proteolysis are poorly understood...
  3. Hermel E, Gafni J, Propp S, Leavitt B, Wellington C, Young J, et al. Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease. Cell Death Differ. 2004;11:424-38 pubmed
    ..Proteolytic processing of full-length mutant huntingtin (Htt) and subsequent events may play an important role in the selective neuronal cell death found in this ..
  4. Behrens P, Franz P, Woodman B, Lindenberg K, Landwehrmeyer G. Impaired glutamate transport and glutamate-glutamine cycling: downstream effects of the Huntington mutation. Brain. 2002;125:1908-22 pubmed
    ..alterations in brain glutamate handling we studied transgenic mice expressing an N-terminal fragment of mutant huntingtin (R6/2)...
  5. Fan J, Cowan C, Zhang L, Hayden M, Raymond L. Interaction of postsynaptic density protein-95 with NMDA receptors influences excitotoxicity in the yeast artificial chromosome mouse model of Huntington's disease. J Neurosci. 2009;29:10928-38 pubmed publisher
    ..chromosome (YAC) transgenic mouse model expressing polyglutamine (polyQ)-expanded (mutant) full-length human huntingtin (htt)...
  6. 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...
  7. Noh J, Lee H, Song S, Kim N, Im W, Kim M, et al. SCAMP5 links endoplasmic reticulum stress to the accumulation of expanded polyglutamine protein aggregates via endocytosis inhibition. J Biol Chem. 2009;284:11318-25 pubmed publisher
    ..expression of SCAMP5 augments the formation of ubiquitin-positive and detergent-resistant aggregates of mutant huntingtin (mtHTT)...
  8. Thompson L, Aiken C, Kaltenbach L, Agrawal N, Illes K, Khoshnan A, et al. IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome. J Cell Biol. 2009;187:1083-99 pubmed publisher
    Expansion of the polyglutamine repeat within the protein Huntingtin (Htt) causes Huntington's disease, a neurodegenerative disease associated with aging and the accumulation of mutant Htt in diseased neurons...
  9. Iwata A, Riley B, Johnston J, Kopito R. HDAC6 and microtubules are required for autophagic degradation of aggregated huntingtin. J Biol Chem. 2005;280:40282-92 pubmed
    ..These data suggest that HDAC6-dependent retrograde transport on microtubules is used by cells to increase the efficiency and selectivity of autophagic degradation. ..
  10. Majumder P, Raychaudhuri S, Chattopadhyay B, Bhattacharyya N. Increased caspase-2, calpain activations and decreased mitochondrial complex II activity in cells expressing exogenous huntingtin exon 1 containing CAG repeat in the pathogenic range. Cell Mol Neurobiol. 2007;27:1127-45 pubmed
    ..dominant neurodegenerative disease caused by the expansion of polymorphic CAG repeats beyond 36 at exon 1 of huntingtin gene (htt)...

Detail Information

Publications62

  1. Pouladi M, Xie Y, Skotte N, Ehrnhoefer D, Graham R, Kim J, et al. Full-length huntingtin levels modulate body weight by influencing insulin-like growth factor 1 expression. Hum Mol Genet. 2010;19:1528-38 pubmed publisher
    Levels of full-length huntingtin (FL htt) influence organ and body weight, independent of polyglutamine length...
  2. Khoshnan A, Ko J, Tescu S, Brundin P, Patterson P. IKKalpha and IKKbeta regulation of DNA damage-induced cleavage of huntingtin. PLoS ONE. 2009;4:e5768 pubmed publisher
    Proteolysis of huntingtin (Htt) plays a key role in the pathogenesis of Huntington's disease (HD). However, the environmental cues and signaling pathways that regulate Htt proteolysis are poorly understood...
  3. Hermel E, Gafni J, Propp S, Leavitt B, Wellington C, Young J, et al. Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease. Cell Death Differ. 2004;11:424-38 pubmed
    ..Proteolytic processing of full-length mutant huntingtin (Htt) and subsequent events may play an important role in the selective neuronal cell death found in this ..
  4. Behrens P, Franz P, Woodman B, Lindenberg K, Landwehrmeyer G. Impaired glutamate transport and glutamate-glutamine cycling: downstream effects of the Huntington mutation. Brain. 2002;125:1908-22 pubmed
    ..alterations in brain glutamate handling we studied transgenic mice expressing an N-terminal fragment of mutant huntingtin (R6/2)...
  5. Fan J, Cowan C, Zhang L, Hayden M, Raymond L. Interaction of postsynaptic density protein-95 with NMDA receptors influences excitotoxicity in the yeast artificial chromosome mouse model of Huntington's disease. J Neurosci. 2009;29:10928-38 pubmed publisher
    ..chromosome (YAC) transgenic mouse model expressing polyglutamine (polyQ)-expanded (mutant) full-length human huntingtin (htt)...
  6. 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...
  7. Noh J, Lee H, Song S, Kim N, Im W, Kim M, et al. SCAMP5 links endoplasmic reticulum stress to the accumulation of expanded polyglutamine protein aggregates via endocytosis inhibition. J Biol Chem. 2009;284:11318-25 pubmed publisher
    ..expression of SCAMP5 augments the formation of ubiquitin-positive and detergent-resistant aggregates of mutant huntingtin (mtHTT)...
  8. Thompson L, Aiken C, Kaltenbach L, Agrawal N, Illes K, Khoshnan A, et al. IKK phosphorylates Huntingtin and targets it for degradation by the proteasome and lysosome. J Cell Biol. 2009;187:1083-99 pubmed publisher
    Expansion of the polyglutamine repeat within the protein Huntingtin (Htt) causes Huntington's disease, a neurodegenerative disease associated with aging and the accumulation of mutant Htt in diseased neurons...
  9. Iwata A, Riley B, Johnston J, Kopito R. HDAC6 and microtubules are required for autophagic degradation of aggregated huntingtin. J Biol Chem. 2005;280:40282-92 pubmed
    ..These data suggest that HDAC6-dependent retrograde transport on microtubules is used by cells to increase the efficiency and selectivity of autophagic degradation. ..
  10. Majumder P, Raychaudhuri S, Chattopadhyay B, Bhattacharyya N. Increased caspase-2, calpain activations and decreased mitochondrial complex II activity in cells expressing exogenous huntingtin exon 1 containing CAG repeat in the pathogenic range. Cell Mol Neurobiol. 2007;27:1127-45 pubmed
    ..dominant neurodegenerative disease caused by the expansion of polymorphic CAG repeats beyond 36 at exon 1 of huntingtin gene (htt)...
  11. Tam S, Spiess C, Auyeung W, Joachimiak L, Chen B, Poirier M, et al. The chaperonin TRiC blocks a huntingtin sequence element that promotes the conformational switch to aggregation. Nat Struct Mol Biol. 2009;16:1279-85 pubmed publisher
    ..Molecular chaperones modulate the aggregation and toxicity of the huntingtin (Htt) protein by an ill-defined mechanism. Here we determine how the chaperonin TRiC suppresses Htt aggregation...
  12. Luo S, Vacher C, Davies J, Rubinsztein D. Cdk5 phosphorylation of huntingtin reduces its cleavage by caspases: implications for mutant huntingtin toxicity. J Cell Biol. 2005;169:647-56 pubmed
    ..Huntington's disease (HD) is a neurodegenerative disorder caused by an expanded polyglutamine (polyQ) tract in the huntingtin (htt) protein...
  13. Culver B, Savas J, Park S, Choi J, Zheng S, Zeitlin S, et al. Proteomic analysis of wild-type and mutant huntingtin-associated proteins in mouse brains identifies unique interactions and involvement in protein synthesis. J Biol Chem. 2012;287:21599-614 pubmed publisher
    Huntington disease is a neurodegenerative disorder caused by a CAG repeat amplification in the gene huntingtin (HTT) that is reflected by a polyglutamine expansion in the Htt protein...
  14. 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...
  15. Nekooki Machida Y, Kurosawa M, Nukina N, Ito K, Oda T, Tanaka M. Distinct conformations of in vitro and in vivo amyloids of huntingtin-exon1 show different cytotoxicity. Proc Natl Acad Sci U S A. 2009;106:9679-84 pubmed publisher
    ..Here we show that huntingtin-exon1 (thtt) with expanded polyglutamines remarkably misfolds into distinct amyloid conformations under ..
  16. Anne S, Saudou F, Humbert S. Phosphorylation of huntingtin by cyclin-dependent kinase 5 is induced by DNA damage and regulates wild-type and mutant huntingtin toxicity in neurons. J Neurosci. 2007;27:7318-28 pubmed
    b>Huntingtin is an antiapoptotic protein that becomes toxic when its polyglutamine stretch is expanded, resulting in Huntington's disease (HD). Protein context and posttranslational modifications regulate huntingtin toxicity...
  17. 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...
  18. Bae B, Xu H, Igarashi S, Fujimuro M, Agrawal N, Taya Y, et al. p53 mediates cellular dysfunction and behavioral abnormalities in Huntington's disease. Neuron. 2005;47:29-41 pubmed
    ..Mutant huntingtin (mHtt) with expanded polyglutamine (polyQ) binds to p53 and upregulates levels of nuclear p53 as well as p53 ..
  19. Subramaniam S, Sixt K, Barrow R, Snyder S. Rhes, a striatal specific protein, mediates mutant-huntingtin cytotoxicity. Science. 2009;324:1327-30 pubmed publisher
    Huntington's disease (HD) is caused by a polyglutamine repeat in the protein huntingtin (Htt) with mutant Htt (mHtt) expressed throughout the body and similarly in all brain regions...
  20. Juenemann K, Schipper Krom S, Wiemhoefer A, Kloss A, Sanz Sanz A, Reits E. Expanded polyglutamine-containing N-terminal huntingtin fragments are entirely degraded by mammalian proteasomes. J Biol Chem. 2013;288:27068-84 pubmed publisher
    ..disease is a neurodegenerative disorder caused by an expanded polyglutamine (polyQ) repeat within the protein huntingtin (Htt)...
  21. 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...
  22. 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...
  23. Luo S, Mizuta H, Rubinsztein D. p21-activated kinase 1 promotes soluble mutant huntingtin self-interaction and enhances toxicity. Hum Mol Genet. 2008;17:895-905 pubmed
    Huntington's disease (HD) is caused by a polyglutamine (polyQ) expansion in the huntingtin (htt) protein. While aggregation is a pathological hallmark of HD and related polyQ expansion diseases, the role of aggregates has been disputed...
  24. Waldron Roby E, Ratovitski T, Wang X, Jiang M, Watkin E, Arbez N, et al. Transgenic mouse model expressing the caspase 6 fragment of mutant huntingtin. J Neurosci. 2012;32:183-93 pubmed publisher
    Huntington's disease (HD) is caused by a polyglutamine expansion in the Huntingtin (Htt) protein. Proteolytic cleavage of Htt into toxic N-terminal fragments is believed to be a key aspect of pathogenesis...