ハンチンチン
(Huntingtin から転送)
出典: フリー百科事典『ウィキペディア（Wikipedia）』 (2023/06/12 10:20 UTC 版)
ハンチンチン（英: huntingtin、HTT）は、ヒトではHTT遺伝子にコードされるタンパク質である。HTT遺伝子はIT15（interesting transcript 15）という別名でも知られる[5]。HTT遺伝子の変異はハンチントン病の原因となり、疾患における役割や長期記憶の保存との関係の研究が行われている[6]。
- ^ a b c GRCh38: Ensembl release 89: ENSG00000197386 - Ensembl, May 2017
- ^ a b c GRCm38: Ensembl release 89: ENSMUSG00000029104 - Ensembl, May 2017
- ^ Human PubMed Reference:
- ^ Mouse PubMed Reference:
- ^ a b The Huntington's Disease Collaborative Research Group (Mar 1993). “A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. The Huntington's Disease Collaborative Research Group”. Cell 72 (6): 971–83. doi:10.1016/0092-8674(93)90585-E. hdl:2027.42/30901. PMID 8458085.
- ^ “Huntingtin is critical both pre- and postsynaptically for long-term learning-related synaptic plasticity in Aplysia”. PLOS ONE 9 (7): e103004. (July 23, 2014). Bibcode: 2014PLoSO...9j3004C. doi:10.1371/journal.pone.0103004. PMC 4108396. PMID 25054562.
- ^ “Analysis of a very large trinucleotide repeat in a patient with juvenile Huntington's disease”. Neurology 52 (2): 392–4. (Jan 1999). doi:10.1212/wnl.52.2.392. PMID 9932964.
- ^ a b “Targeted disruption of the Huntington's disease gene results in embryonic lethality and behavioral and morphological changes in heterozygotes”. Cell 81 (5): 811–23. (Jun 1995). doi:10.1016/0092-8674(95)90542-1. PMID 7774020.
- ^ “HTT gene”. 2023年3月11日閲覧。
- ^ “Traffic signaling: new functions of huntingtin and axonal transport in neurological disease”. Current Opinion in Neurobiology 63: 122–130. (August 2020). doi:10.1016/j.conb.2020.04.001. PMID 32408142.
- ^ “Normal huntingtin function: an alternative approach to Huntington's disease”. Nature Reviews. Neuroscience 6 (12): 919–30. (December 2005). doi:10.1038/nrn1806. PMID 16288298.
- ^ “Loss of huntingtin-mediated BDNF gene transcription in Huntington's disease”. Science 293 (5529): 493–8. (July 2001). doi:10.1126/science.1059581. PMID 11408619.
- ^ “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 Science 115 (Pt 5): 941–8. (March 2002). doi:10.1242/jcs.115.5.941. PMID 11870213.
- ^ “Huntingtin is a cytoplasmic protein associated with vesicles in human and rat brain neurons”. Neuron 14 (5): 1075–81. (May 1995). doi:10.1016/0896-6273(95)90346-1. PMID 7748555.
- ^ “Wild-type and mutant huntingtins function in vesicle trafficking in the secretory and endocytic pathways”. Experimental Neurology 152 (1): 34–40. (July 1998). doi:10.1006/exnr.1998.6832. PMID 9682010.
- ^ “The huntingtin interacting protein HIP1 is a clathrin and alpha-adaptin-binding protein involved in receptor-mediated endocytosis”. Human Molecular Genetics 10 (17): 1807–17. (August 2001). doi:10.1093/hmg/10.17.1807. PMID 11532990.
- ^ “Huntingtin Is Required for Epithelial Polarity through RAB11A-Mediated Apical Trafficking of PAR3-aPKC”. PLOS Biology 13 (5): e1002142. (May 2015). doi:10.1371/journal.pbio.1002142. PMC 4420272. PMID 25942483.
- ^ “The hunt for huntingtin function: interaction partners tell many different stories”. Trends in Biochemical Sciences 28 (8): 425–33. (Aug 2003). doi:10.1016/S0968-0004(03)00168-3. PMID 12932731.
- ^ “A protein interaction network links GIT1, an enhancer of huntingtin aggregation, to Huntington's disease”. Molecular Cell 15 (6): 853–65. (Sep 2004). doi:10.1016/j.molcel.2004.09.016. PMID 15383276.
- ^ “HIP-I: a huntingtin interacting protein isolated by the yeast two-hybrid system”. Human Molecular Genetics 6 (3): 487–95. (Mar 1997). doi:10.1093/hmg/6.3.487. PMID 9147654.
- ^ a b “SH3 domain-dependent association of huntingtin with epidermal growth factor receptor signaling complexes”. The Journal of Biological Chemistry 272 (13): 8121–4. (Mar 1997). doi:10.1074/jbc.272.13.8121. PMID 9079622.
- ^ “The Huntington's disease protein interacts with p53 and CREB-binding protein and represses transcription”. Proceedings of the National Academy of Sciences of the United States of America 97 (12): 6763–8. (Jun 2000). Bibcode: 2000PNAS...97.6763S. doi:10.1073/pnas.100110097. PMC 18731. PMID 10823891.
- ^ “PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains”. Human Molecular Genetics 11 (21): 2547–58. (Oct 2002). doi:10.1093/hmg/11.21.2547. PMID 12354780.
- ^ “SH3GL3 associates with the Huntingtin exon 1 protein and promotes the formation of polygln-containing protein aggregates”. Molecular Cell 2 (4): 427–36. (Oct 1998). doi:10.1016/S1097-2765(00)80142-2. PMID 9809064.
- ^ “Interaction of Huntington disease protein with transcriptional activator Sp1”. Molecular and Cellular Biology 22 (5): 1277–87. (Mar 2002). doi:10.1128/MCB.22.5.1277-1287.2002. PMC 134707. PMID 11839795.
- ^ “Huntingtin is ubiquitinated and interacts with a specific ubiquitin-conjugating enzyme”. The Journal of Biological Chemistry 271 (32): 19385–94. (Aug 1996). doi:10.1074/jbc.271.32.19385. PMID 8702625.
- ^ “Activation of MLK2-mediated signaling cascades by polyglutamine-expanded huntingtin”. The Journal of Biological Chemistry 275 (25): 19035–40. (Jun 2000). doi:10.1074/jbc.C000180200. PMID 10801775.
- ^ “FIP-2, a coiled-coil protein, links Huntingtin to Rab8 and modulates cellular morphogenesis”. Current Biology 10 (24): 1603–6. (2000). doi:10.1016/S0960-9822(00)00864-2. PMID 11137014.
- ^ a b c “Huntingtin interacts with a family of WW domain proteins”. Human Molecular Genetics 7 (9): 1463–74. (Sep 1998). doi:10.1093/hmg/7.9.1463. PMID 9700202.
- ^ “Cdc42-interacting protein 4 binds to huntingtin: neuropathologic and biological evidence for a role in Huntington's disease”. Proceedings of the National Academy of Sciences of the United States of America 100 (5): 2712–7. (Mar 2003). Bibcode: 2003PNAS..100.2712H. doi:10.1073/pnas.0437967100. PMC 151406. PMID 12604778.
- ^ “HIP14, a novel ankyrin domain-containing protein, links huntingtin to intracellular trafficking and endocytosis”. Human Molecular Genetics 11 (23): 2815–28. (Nov 2002). doi:10.1093/hmg/11.23.2815. PMID 12393793.
- ^ “Oxidative Stress in Neurodegenerative Diseases: From Molecular Mechanisms to Clinical Applications”. Oxid Med Cell Longev 2017: 2525967. (2017). doi:10.1155/2017/2525967. PMC 5529664. PMID 28785371.
- ^ Maiuri, Tamara; Mocle, Andrew J.; Hung, Claudia L.; Xia, Jianrun; van Roon-Mom, Willeke M. C.; Truant, Ray (25 December 2016). “Huntingtin is a scaffolding protein in the ATM oxidative DNA damage response complex”. Human Molecular Genetics 26 (2): 395–406. doi:10.1093/hmg/ddw395. PMID 28017939.
- ^ “Role of oxidative DNA damage in mitochondrial dysfunction and Huntington's disease pathogenesis”. Free Radic. Biol. Med. 62: 102–10. (September 2013). doi:10.1016/j.freeradbiomed.2013.04.017. PMC 3722255. PMID 23602907.
- ^ a b “Huntington's disease”. Lancet 369 (9557): 218–28. (Jan 2007). doi:10.1016/S0140-6736(07)60111-1. PMID 17240289.
- ^ a b “Contribution of DNA sequence and CAG size to mutation frequencies of intermediate alleles for Huntington disease: evidence from single sperm analyses”. Human Molecular Genetics 6 (2): 301–9. (Feb 1997). doi:10.1093/hmg/6.2.301. PMID 9063751.
- ^ “Formation of neuronal intranuclear inclusions underlies the neurological dysfunction in mice transgenic for the HD mutation”. Cell 90 (3): 537–48. (Aug 1997). doi:10.1016/S0092-8674(00)80513-9. PMID 9267033.
- ^ “Inclusion body formation reduces levels of mutant huntingtin and the risk of neuronal death”. Nature 431 (7010): 805–10. (Oct 2004). Bibcode: 2004Natur.431..805A. doi:10.1038/nature02998. PMID 15483602.
- ^ “Delayed Emergence of Subdiffraction-Sized Mutant Huntingtin Fibrils Following Inclusion Body Formation”. Q Rev Biophys 49: e2. (2016). doi:10.1017/S0033583515000219. PMC 4785097. PMID 26350150.
- ^ “Neurodegenerative disease: neuron protection agency”. Nature 431 (7010): 747–8. (Oct 2004). Bibcode: 2004Natur.431..747O. doi:10.1038/431747a. PMID 15483586.
[続きの解説]
「ハンチンチン」の続きの解説一覧
- 1 ハンチンチンとは
- 2 ハンチンチンの概要
- 3 遺伝子
- 4 臨床的意義
- 5 関連文献
- 6 外部リンク
- Huntingtinのページへのリンク
