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Search: (WFRF:(Aasly J)) > (2020-2023) > Toward allele-speci...

  • Prudencio, MercedesMayo Clinic Florida (author)

Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3

  • Article/chapterEnglish2020

Publisher, publication year, extent ...

  • American Association for the Advancement of Science (AAAS),2020

Numbers

  • LIBRIS-ID:oai:lup.lub.lu.se:42b36459-f626-480d-a0be-379b916b24ed
  • https://lup.lub.lu.se/record/42b36459-f626-480d-a0be-379b916b24edURI
  • https://doi.org/10.1126/scitranslmed.abb7086DOI

Supplementary language notes

  • Language:English
  • Summary in:English

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  • Subject category:art swepub-publicationtype
  • Subject category:ref swepub-contenttype

Notes

  • 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 of pharmacodynamic markers for use in clinical trials. Here, we developed an immunoassay that readily detects polyQ ATXN3 proteins in human biological fluids and discriminates patients with SCA3 from healthy controls and individuals with other ataxias. We show that polyQ ATXN3 serves as a marker of target engagement in human fibroblasts, which may bode well for its use in clinical trials. Last, we identified a single-nucleotide polymorphism that strongly associates with the expanded allele, thus providing an exciting drug target to abrogate detrimental events initiated by mutant ATXN3. Gene-silencing strategies for several repeat diseases are well under way, and our results are expected to improve clinical trial preparedness for SCA3 therapies.

Subject headings and genre

Added entries (persons, corporate bodies, meetings, titles ...)

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  • Daughrity, Lillian MUniversity of Geneva (author)
  • Song, YupingUniversity of Geneva (author)
  • Dunmore, Judith AUniversity of Geneva (author)
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  • Nicholson, Katharine A (author)
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  • Gorcenco, SorinaLund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital(Swepub:lu)so1444go (author)
  • Puschmann, AndreasLund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital(Swepub:lu)med-aps (author)
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  • Friedman, Joseph H (author)
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  • Shakkottai, VikramWestern Michigan University (author)
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  • Paulson, Henry LWestern Michigan University (author)
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  • Kakita, AkiyoshiNiigata University (author)
  • Fryer, John D (author)
  • Karremo, ChristinLund University,Lunds universitet,Neurologi, Lund,Sektion IV,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Neurology, Lund,Section IV,Department of Clinical Sciences, Lund,Faculty of Medicine,Skåne University Hospital(Swepub:lu)med-crk (author)
  • Gomes, InêsCenter for Neuroscience and Cell Biology, University of Coimbra (author)
  • Caviness, John NNordsjællands Hospital (author)
  • Pittelkow, Mark R (author)
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  • Pfeiffer, Ronald FOregon Health & Science University (author)
  • Veerappan, VenkaOregon Health & Science University (author)
  • Eggenberger, Eric RNordsjællands Hospital (author)
  • Freeman, William DNordsjællands Hospital (author)
  • Huang, Josephine FNordsjællands Hospital (author)
  • Uitti, Ryan JNordsjællands Hospital (author)
  • Wierenga, Klaas JNordsjællands Hospital (author)
  • Marin Collazo, Iris VNordsjællands Hospital (author)
  • Tipton, Philip WNordsjællands Hospital (author)
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  • Bu, GuojunUniversity of Geneva (author)
  • Wszolek, Zbigniew KNordsjællands Hospital (author)
  • Petrucelli, LeonardMayo Clinic Florida (author)
  • Mayo Clinic FloridaUniversity of Geneva (creator_code:org_t)
  • et al.

Related titles

  • In:Science Translational Medicine: American Association for the Advancement of Science (AAAS)12:5661946-62421946-6234

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