Nasir J, Floresco SB, O'Kusky JR, Diewert VM, Richman JM, Zeisler J, Borowski A, Marth JD, Phillips AG, Hayden MR (xuño de 1995). "Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes". Cell81 (5): 811–23. PMID7774020. doi:10.1016/0092-8674(95)90542-1.
Vitet H, Brandt V, Saudou F (agosto de 2020). "Traffic signaling: new functions of huntingtin and axonal transport in neurological disease". Current Opinion in Neurobiology63: 122–130. PMID32408142. doi:10.1016/j.conb.2020.04.001.
Cattaneo E, Zuccato C, Tartari M (decembro de 2005). "Normal huntingtin function: an alternative approach to Huntington's disease". Nature Reviews. Neuroscience6 (12): 919–30. PMID16288298. doi:10.1038/nrn1806.
Zuccato C, Ciammola A, Rigamonti D, Leavitt BR, Goffredo D, Conti L, et al. (xullo de 2001). "Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease". Science293 (5529): 493–8. PMID11408619. doi:10.1126/science.1059581.
Hoffner G, Kahlem P, Djian P (marzo de 2002). "Perinuclear localization of huntingtin as a consequence of its binding to microtubules through an interaction with beta-tubulin: relevance to Huntington's disease". Journal of Cell Science115 (Pt 5): 941–8. PMID11870213. doi:10.1242/jcs.115.5.941.
DiFiglia M, Sapp E, Chase K, Schwarz C, Meloni A, Young C, et al. (maio de 1995). "Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons". Neuron14 (5): 1075–81. PMID7748555. doi:10.1016/0896-6273(95)90346-1.
Velier J, Kim M, Schwarz C, Kim TW, Sapp E, Chase K, et al. (xullo de 1998). "Wild-type and mutant huntingtins function in vesicle trafficking in the secretory and endocytic pathways". Experimental Neurology152 (1): 34–40. PMID9682010. doi:10.1006/exnr.1998.6832.
Waelter S, Scherzinger E, Hasenbank R, Nordhoff E, Lurz R, Goehler H, et al. (agosto de 2001). "The huntingtin interacting protein HIP1 is a clathrin and alpha-adaptin-binding protein involved in receptor-mediated endocytosis". Human Molecular Genetics10 (17): 1807–17. PMID11532990. doi:10.1093/hmg/10.17.1807.
Goehler H, Lalowski M, Stelzl U, Waelter S, Stroedicke M, Worm U, Droege A, Lindenberg KS, Knoblich M, Haenig C, Herbst M, Suopanki J, Scherzinger E, Abraham C, Bauer B, Hasenbank R, Fritzsche A, Ludewig AH, Büssow K, Buessow K, Coleman SH, Gutekunst CA, Landwehrmeyer BG, Lehrach H, Wanker EE (setembro de 2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Molecular Cell15 (6): 853–65. PMID15383276. doi:10.1016/j.molcel.2004.09.016.
Wanker EE, Rovira C, Scherzinger E, Hasenbank R, Wälter S, Tait D, Colicelli J, Lehrach H (marzo de 1997). "HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system". Human Molecular Genetics6 (3): 487–95. PMID9147654. doi:10.1093/hmg/6.3.487.
Liu YF, Deth RC, Devys D (marzo de 1997). "SH3 domain-dependent association of huntingtin with epidermal growth factor receptor signaling complexes". The Journal of Biological Chemistry272 (13): 8121–4. PMID9079622. doi:10.1074/jbc.272.13.8121.
Modregger J, DiProspero NA, Charles V, Tagle DA, Plomann M (outubro de 2002). "PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains". Human Molecular Genetics11 (21): 2547–58. PMID12354780. doi:10.1093/hmg/11.21.2547.
Sittler A, Wälter S, Wedemeyer N, Hasenbank R, Scherzinger E, Eickhoff H, Bates GP, Lehrach H, Wanker EE (outubro de 1998). "SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates". Molecular Cell2 (4): 427–36. PMID9809064. doi:10.1016/S1097-2765(00)80142-2.
Kalchman MA, Graham RK, Xia G, Koide HB, Hodgson JG, Graham KC, Goldberg YP, Gietz RD, Pickart CM, Hayden MR (agosto de 1996). "Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme". The Journal of Biological Chemistry271 (32): 19385–94. PMID8702625. doi:10.1074/jbc.271.32.19385.
Liu YF, Dorow D, Marshall J (xuño de 2000). "Activation of MLK2-mediated signaling cascades by polyglutamine-expanded huntingtin". The Journal of Biological Chemistry275 (25): 19035–40. PMID10801775. doi:10.1074/jbc.C000180200.
Hattula K, Peränen J (2000). "FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis". Current Biology10 (24): 1603–6. PMID11137014. doi:10.1016/S0960-9822(00)00864-2.
Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME (setembro de 1998). "Huntingtin interacts with a family of WW domain proteins". Human Molecular Genetics7 (9): 1463–74. PMID9700202. doi:10.1093/hmg/7.9.1463.
Singaraja RR, Hadano S, Metzler M, Givan S, Wellington CL, Warby S, Yanai A, Gutekunst CA, Leavitt BR, Yi H, Fichter K, Gan L, McCutcheon K, Chopra V, Michel J, Hersch SM, Ikeda JE, Hayden MR (novembro de 2002). "HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis". Human Molecular Genetics11 (23): 2815–28. PMID12393793. doi:10.1093/hmg/11.23.2815.
Maiuri, Tamara; Mocle, Andrew J.; Hung, Claudia L.; Xia, Jianrun; van Roon-Mom, Willeke M. C.; Truant, Ray (25 de decembro de 2016). "Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex". Human Molecular Genetics26 (2): 395–406. PMID28017939. doi:10.1093/hmg/ddw395.
Chong SS, Almqvist E, Telenius H, LaTray L, Nichol K, Bourdelat-Parks B, Goldberg YP, Haddad BR, Richards F, Sillence D, Greenberg CR, Ives E, Van den Engh G, Hughes MR, Hayden MR (febreiro de 1997). "Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses". Human Molecular Genetics6 (2): 301–9. PMID9063751. doi:10.1093/hmg/6.2.301.
Davies SW, Turmaine M, Cozens BA, DiFiglia M, Sharp AH, Ross CA, Scherzinger E, Wanker EE, Mangiarini L, Bates GP (agosto de 1997). "Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation". Cell90 (3): 537–48. PMID9267033. doi:10.1016/S0092-8674(00)80513-9.
Arrasate M, Mitra S, Schweitzer ES, Segal MR, Finkbeiner S (outubro de 2004). "Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death". Nature431 (7010): 805–10. Bibcode:2004Natur.431..805A. PMID15483602. doi:10.1038/nature02998.
Arrasate M, Mitra S, Schweitzer ES, Segal MR, Finkbeiner S (outubro de 2004). "Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death". Nature431 (7010): 805–10. Bibcode:2004Natur.431..805A. PMID15483602. doi:10.1038/nature02998.
Nasir J, Floresco SB, O'Kusky JR, Diewert VM, Richman JM, Zeisler J, Borowski A, Marth JD, Phillips AG, Hayden MR (xuño de 1995). "Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes". Cell81 (5): 811–23. PMID7774020. doi:10.1016/0092-8674(95)90542-1.
Vitet H, Brandt V, Saudou F (agosto de 2020). "Traffic signaling: new functions of huntingtin and axonal transport in neurological disease". Current Opinion in Neurobiology63: 122–130. PMID32408142. doi:10.1016/j.conb.2020.04.001.
Cattaneo E, Zuccato C, Tartari M (decembro de 2005). "Normal huntingtin function: an alternative approach to Huntington's disease". Nature Reviews. Neuroscience6 (12): 919–30. PMID16288298. doi:10.1038/nrn1806.
Zuccato C, Ciammola A, Rigamonti D, Leavitt BR, Goffredo D, Conti L, et al. (xullo de 2001). "Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease". Science293 (5529): 493–8. PMID11408619. doi:10.1126/science.1059581.
Hoffner G, Kahlem P, Djian P (marzo de 2002). "Perinuclear localization of huntingtin as a consequence of its binding to microtubules through an interaction with beta-tubulin: relevance to Huntington's disease". Journal of Cell Science115 (Pt 5): 941–8. PMID11870213. doi:10.1242/jcs.115.5.941.
DiFiglia M, Sapp E, Chase K, Schwarz C, Meloni A, Young C, et al. (maio de 1995). "Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons". Neuron14 (5): 1075–81. PMID7748555. doi:10.1016/0896-6273(95)90346-1.
Velier J, Kim M, Schwarz C, Kim TW, Sapp E, Chase K, et al. (xullo de 1998). "Wild-type and mutant huntingtins function in vesicle trafficking in the secretory and endocytic pathways". Experimental Neurology152 (1): 34–40. PMID9682010. doi:10.1006/exnr.1998.6832.
Waelter S, Scherzinger E, Hasenbank R, Nordhoff E, Lurz R, Goehler H, et al. (agosto de 2001). "The huntingtin interacting protein HIP1 is a clathrin and alpha-adaptin-binding protein involved in receptor-mediated endocytosis". Human Molecular Genetics10 (17): 1807–17. PMID11532990. doi:10.1093/hmg/10.17.1807.
Goehler H, Lalowski M, Stelzl U, Waelter S, Stroedicke M, Worm U, Droege A, Lindenberg KS, Knoblich M, Haenig C, Herbst M, Suopanki J, Scherzinger E, Abraham C, Bauer B, Hasenbank R, Fritzsche A, Ludewig AH, Büssow K, Buessow K, Coleman SH, Gutekunst CA, Landwehrmeyer BG, Lehrach H, Wanker EE (setembro de 2004). "A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease". Molecular Cell15 (6): 853–65. PMID15383276. doi:10.1016/j.molcel.2004.09.016.
Wanker EE, Rovira C, Scherzinger E, Hasenbank R, Wälter S, Tait D, Colicelli J, Lehrach H (marzo de 1997). "HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system". Human Molecular Genetics6 (3): 487–95. PMID9147654. doi:10.1093/hmg/6.3.487.
Liu YF, Deth RC, Devys D (marzo de 1997). "SH3 domain-dependent association of huntingtin with epidermal growth factor receptor signaling complexes". The Journal of Biological Chemistry272 (13): 8121–4. PMID9079622. doi:10.1074/jbc.272.13.8121.
Modregger J, DiProspero NA, Charles V, Tagle DA, Plomann M (outubro de 2002). "PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains". Human Molecular Genetics11 (21): 2547–58. PMID12354780. doi:10.1093/hmg/11.21.2547.
Sittler A, Wälter S, Wedemeyer N, Hasenbank R, Scherzinger E, Eickhoff H, Bates GP, Lehrach H, Wanker EE (outubro de 1998). "SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates". Molecular Cell2 (4): 427–36. PMID9809064. doi:10.1016/S1097-2765(00)80142-2.
Kalchman MA, Graham RK, Xia G, Koide HB, Hodgson JG, Graham KC, Goldberg YP, Gietz RD, Pickart CM, Hayden MR (agosto de 1996). "Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme". The Journal of Biological Chemistry271 (32): 19385–94. PMID8702625. doi:10.1074/jbc.271.32.19385.
Liu YF, Dorow D, Marshall J (xuño de 2000). "Activation of MLK2-mediated signaling cascades by polyglutamine-expanded huntingtin". The Journal of Biological Chemistry275 (25): 19035–40. PMID10801775. doi:10.1074/jbc.C000180200.
Hattula K, Peränen J (2000). "FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis". Current Biology10 (24): 1603–6. PMID11137014. doi:10.1016/S0960-9822(00)00864-2.
Faber PW, Barnes GT, Srinidhi J, Chen J, Gusella JF, MacDonald ME (setembro de 1998). "Huntingtin interacts with a family of WW domain proteins". Human Molecular Genetics7 (9): 1463–74. PMID9700202. doi:10.1093/hmg/7.9.1463.
Singaraja RR, Hadano S, Metzler M, Givan S, Wellington CL, Warby S, Yanai A, Gutekunst CA, Leavitt BR, Yi H, Fichter K, Gan L, McCutcheon K, Chopra V, Michel J, Hersch SM, Ikeda JE, Hayden MR (novembro de 2002). "HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis". Human Molecular Genetics11 (23): 2815–28. PMID12393793. doi:10.1093/hmg/11.23.2815.
Maiuri, Tamara; Mocle, Andrew J.; Hung, Claudia L.; Xia, Jianrun; van Roon-Mom, Willeke M. C.; Truant, Ray (25 de decembro de 2016). "Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex". Human Molecular Genetics26 (2): 395–406. PMID28017939. doi:10.1093/hmg/ddw395.
Chong SS, Almqvist E, Telenius H, LaTray L, Nichol K, Bourdelat-Parks B, Goldberg YP, Haddad BR, Richards F, Sillence D, Greenberg CR, Ives E, Van den Engh G, Hughes MR, Hayden MR (febreiro de 1997). "Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses". Human Molecular Genetics6 (2): 301–9. PMID9063751. doi:10.1093/hmg/6.2.301.
Davies SW, Turmaine M, Cozens BA, DiFiglia M, Sharp AH, Ross CA, Scherzinger E, Wanker EE, Mangiarini L, Bates GP (agosto de 1997). "Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation". Cell90 (3): 537–48. PMID9267033. doi:10.1016/S0092-8674(00)80513-9.
Arrasate M, Mitra S, Schweitzer ES, Segal MR, Finkbeiner S (outubro de 2004). "Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death". Nature431 (7010): 805–10. Bibcode:2004Natur.431..805A. PMID15483602. doi:10.1038/nature02998.
