Article
Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3.
Science translational medicine - 21 Oct 2020
Prudencio Mercedes, Garcia-Moreno Hector, Jansen-West Karen R, Al-Shaikh Rana Hanna, Gendron Tania F, Heckman Michael G, Spiegel Matthew R, Carlomagno Yari, Daughrity Lillian M, Song Yuping, Dunmore Judith A, Byron Natalie, Oskarsson Björn, Nicholson Katharine A, Staff Nathan P, Gorcenco Sorina, Puschmann Andreas, Lemos João, Januário Cristina, LeDoux Mark S, Friedman Joseph H, Polke James, Labrum Robin, Shakkottai Vikram, McLoughlin Hayley S, Paulson Henry L, Konno Takuya, Onodera Osamu, Ikeuchi Takeshi, Tada Mari, Kakita Akiyoshi, Fryer John D, Karremo Christin, Gomes Inês, Caviness John N, Pittelkow Mark R, Aasly Jan, Pfeiffer Ronald F, Veerappan Venka, Eggenberger Eric R, Freeman William D, Huang Josephine F, Uitti Ryan J, Wierenga Klaas J, Marin Collazo Iris V, Tipton Philip W, van Gerpen Jay A, van Blitterswijk Marka, Bu Guojun, Wszolek Zbigniew K, Giunti Paola, Petrucelli Leonard
Abstract excerpt
Spinocerebellar ataxia type 3 (SCA3), caused by a CAG repeat expansion in the ataxin-3 gene (ATXN3), is characterized by neuronal polyglutamine (polyQ) ATXN3 protein aggregates. Although there is no cure for SCA3, gene-silencing approaches to reduce toxic polyQ ATXN3 showed promise in preclinical models. However, a major limitation in translating putative treatments for this rare disease to the clinic is the lack...
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