Gilliam TC, Tanzi RE, Haines JL, Bonner TI, Faryniarz AG, Hobbs WJ, MacDonald ME, Cheng SV, Folstein SE, Conneally PM, et al. Localization of the huntington’s disease gene to a small segment of chromosome 4 flanked by D4S10 and the telomere. Cell. 1987;50:565–71.
Article CAS PubMed Google Scholar
Saudou F, Humbert S. The Biology of Huntingtin. Neuron. 2016;89:910–26.
Article CAS PubMed Google Scholar
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 1993, 72:971–983.
Bates GP, Dorsey R, Gusella JF, Hayden MR, Kay C, Leavitt BR, Nance M, Ross CA, Scahill RI, Wetzel R, et al. Huntington disease Nat Rev Dis Primers. 2015;1:1–21.
Gutekunst C-A, Li S-H, Yi H, Mulroy JS, Kuemmerle S, Jones R, Rye D, Ferrante RJ, Hersch SM, Li X-J. Nuclear and Neuropil Aggregates in Huntington’s Disease: Relationship to Neuropathology. J Neurosci. 1999;19:2522–34.
Article CAS PubMed PubMed Central Google Scholar
Caviston JP, Ross JL, Antony SM, Tokito M, Holzbaur ELF. Huntingtin facilitates dynein/dynactin-mediated vesicle transport. Proc Natl Acad Sci. 2007;104:10045–50.
Article CAS PubMed PubMed Central Google Scholar
Li H, Li S-H, Yu Z-X, Shelbourne P, Li X-J. Huntingtin Aggregate-Associated Axonal Degeneration is an Early Pathological Event in Huntington’s Disease Mice. J Neurosci. 2001;21:8473–81.
Article CAS PubMed PubMed Central Google Scholar
Colin E, Zala D, Liot G, Rangone H, Borrell-Pagès M, Li X-J, Saudou F, Humbert S. Huntingtin phosphorylation acts as a molecular switch for anterograde/retrograde transport in neurons. EMBO J. 2008;27:2124–34.
Article CAS PubMed PubMed Central Google Scholar
McGuire JR, Rong J, Li S-H, Li X-J. Interaction of Huntingtin-associated Protein-1 with Kinesin Light Chain: IMPLICATIONS IN INTRACELLULAR TRAFFICKING IN NEURONS*. J Biol Chem. 2006;281:3552–9.
Article CAS PubMed Google Scholar
Morfini GA, You Y-M, Pollema SL, Kaminska A, Liu K, Yoshioka K, Björkblom B, Coffey ET, Bagnato C, Han D, et al. Pathogenic huntingtin inhibits fast axonal transport by activating JNK3 and phosphorylating kinesin. Nat Neurosci. 2009;12:864–71.
Article CAS PubMed PubMed Central Google Scholar
Kegel KB, Meloni AR, Yi Y, Kim YJ, Doyle E, Cuiffo BG, Sapp E, Wang Y, Qin Z-H, Chen JD, et al. Huntingtin Is Present in the Nucleus, Interacts with the Transcriptional Corepressor C-terminal Binding Protein, and Represses Transcription*. J Biol Chem. 2002;277:7466–76.
Article CAS PubMed Google Scholar
Nucifora FC, Sasaki M, Peters MF, Huang H, Cooper JK, Yamada M, Takahashi H, Tsuji S, Troncoso J, Dawson VL, et al. Interference by Huntingtin and Atrophin-1 with CBP-Mediated Transcription Leading to Cellular Toxicity. Science. 2001;291:2423–8.
Article CAS PubMed Google Scholar
Wyss-Coray T. Ageing, neurodegeneration and brain rejuvenation. Nature. 2016;539:180–6.
Article CAS PubMed PubMed Central Google Scholar
Sims R, Hill M, Williams J. The multiplex model of the genetics of Alzheimer’s disease. Nat Neurosci. 2020;23:311–22.
Article CAS PubMed Google Scholar
Serrano-Pozo A, Frosch MP, Masliah E, Hyman BT. Neuropathological Alterations in Alzheimer Disease. Cold Spring Harb Perspect Med. 2011;1: a006189.
Article PubMed PubMed Central Google Scholar
Shulman JM, De Jager PL, Feany MB. Parkinson’s Disease: Genetics and Pathogenesis. Annu Rev Pathol. 2011;6:193–222.
Article CAS PubMed Google Scholar
Liu J, Lillo C, Jonsson PA, Velde CV, Ward CM, Miller TM, Subramaniam JR, Rothstein JD, Marklund S, Andersen PM, et al. Toxicity of Familial ALS-Linked SOD1 Mutants from Selective Recruitment to Spinal Mitochondria. Neuron. 2004;43:5–17.
Article CAS PubMed Google Scholar
Wang W, Wang L, Lu J, Siedlak SL, Fujioka H, Liang J, Jiang S, Ma X, Jiang Z, da Rocha EL, et al. The inhibition of TDP-43 mitochondrial localization blocks its neuronal toxicity. Nat Med. 2016;22:869–78.
Article CAS PubMed PubMed Central Google Scholar
Bashir H. Emerging therapies in Huntington’s disease. Expert Rev Neurother. 2019;19:983–95.
Article CAS PubMed Google Scholar
Aronin N, DiFiglia M. Huntingtin-lowering strategies in Huntington’s disease: Antisense oligonucleotides, small RNAs, and gene editing. Mov Disord. 2014;29:1455–61.
Article CAS PubMed Google Scholar
Bennett CF, Krainer AR, Cleveland DW. Antisense Oligonucleotide Therapies for Neurodegenerative Diseases. Annu Rev Neurosci. 2019;42:385–406.
Article CAS PubMed PubMed Central Google Scholar
Targeting Huntingtin Expression in Patients with Huntington’s Disease. N Engl J Med. 2019;381:1398–1398.
Franich NR, Fitzsimons HL, Fong DM, Klugmann M, During MJ, Young D. AAV Vector–mediated RNAi of Mutant Huntingtin Expression Is Neuroprotective in a Novel Genetic Rat Model of Huntington’s Disease. Mol Ther. 2008;16:947–56.
Article CAS PubMed Google Scholar
McBride JL, Pitzer MR, Boudreau RL, Dufour B, Hobbs T, Ojeda SR, Davidson BL. Preclinical Safety of RNAi-Mediated HTT Suppression in the Rhesus Macaque as a Potential Therapy for Huntington’s Disease. Mol Ther. 2011;19:2152–62.
Article CAS PubMed PubMed Central Google Scholar
Spronck EA, Brouwers CC, Vallès A, de Haan M, Petry H, van Deventer SJ, Konstantinova P, Evers MM. AAV5-miHTT Gene Therapy Demonstrates Sustained Huntingtin Lowering and Functional Improvement in Huntington Disease Mouse Models. Molecular Therapy - Methods & Clinical Development. 2019;13:334–43.
Vallès A, Evers MM, Stam A, Sogorb-Gonzalez M, Brouwers C, Vendrell-Tornero C, Acar-Broekmans S, Paerels L, Klima J, Bohuslavova B, et al. Widespread and sustained target engagement in Huntington’s disease minipigs upon intrastriatal microRNA-based gene therapy. Sci Transl Med. 2021;13:eabb8920.
Kordasiewicz HB, Stanek LM, Wancewicz EV, Mazur C, McAlonis MM, Pytel KA, Artates JW, Weiss A, Cheng SH, Shihabuddin LS, et al. Sustained Therapeutic Reversal of Huntington’s Disease by Transient Repression of Huntingtin Synthesis. Neuron. 2012;74:1031–44.
Article CAS PubMed PubMed Central Google Scholar
Southwell AL, Kordasiewicz HB, Langbehn D, Skotte NH, Parsons MP, Villanueva EB, Caron NS, Østergaard ME, Anderson LM, Xie Y, et al. Huntingtin suppression restores cognitive function in a mouse model of Huntington’s disease. Sci Transl Med. 2018;10:eaar3959.
Silva AC, Lobo DD, Martins IM, Lopes SM, Henriques C, Duarte SP, Dodart J-C, Nobre RJ. Pereira de Almeida L: Antisense oligonucleotide therapeutics in neurodegenerative diseases: the case of polyglutamine disorders. Brain. 2020;143:407–29.
Imbert M, Blandel F, Leumann C, Garcia L, Goyenvalle A. Lowering Mutant Huntingtin Using Tricyclo-DNA Antisense Oligonucleotides As a Therapeutic Approach for Huntington’s Disease. Nucleic Acid Ther. 2019;29:256–65.
Article CAS PubMed Google Scholar
Drouet V, Perrin V, Hassig R, Dufour N, Auregan G, Alves S, Bonvento G, Brouillet E, Luthi-Carter R, Hantraye P, Déglon N. Sustained effects of nonallele-specific Huntingtin silencing. Ann Neurol. 2009;65:276–85.
留言 (0)