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

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Fältnamn	Indikatorer	Metadata
000		06446naa a2200901 4500
001		oai:lup.lub.lu.se:42b36459-f626-480d-a0be-379b916b24ed
003		SwePub
008		201102s2020 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://lup.lub.lu.se/record/42b36459-f626-480d-a0be-379b916b24ed2 URI
024	7	a https://doi.org/10.1126/scitranslmed.abb70862 DOI
040		a (SwePub)lu
041		a engb eng
042		9 SwePub
072	7	a art2 swepub-publicationtype
072	7	a ref2 swepub-contenttype
100	1	a Prudencio, Mercedesu Mayo Clinic Florida4 aut
245	1 0	a Toward allele-specific targeting therapy and pharmacodynamic marker for spinocerebellar ataxia type 3
264	1	b American Association for the Advancement of Science (AAAS),c 2020
520		a 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.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Neurologi0 (SwePub)302072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Neurology0 (SwePub)302072 hsv//eng
700	1	a Garcia-Moreno, Hector4 aut
700	1	a Jansen-West, Karen Ru University of Geneva4 aut
700	1	a Al-Shaikh, Rana Hannau Nordsjællands Hospital4 aut
700	1	a Gendron, Tania Fu University of Geneva4 aut
700	1	a Heckman, Michael Gu Mayo Clinic Minnesota4 aut
700	1	a Spiegel, Matthew Ru Mayo Clinic Minnesota4 aut
700	1	a Carlomagno, Yariu University of Geneva4 aut
700	1	a Daughrity, Lillian Mu University of Geneva4 aut
700	1	a Song, Yupingu University of Geneva4 aut
700	1	a Dunmore, Judith Au University of Geneva4 aut
700	1	a Byron, Natalieu University of Geneva4 aut
700	1	a Oskarsson, Björnu Nordsjællands Hospital4 aut
700	1	a Nicholson, Katharine A4 aut
700	1	a Staff, Nathan Pu Nordsjællands Hospital4 aut
700	1	a Gorcenco, Sorinau Lund 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 Hospital4 aut0 (Swepub:lu)so1444go
700	1	a Puschmann, Andreasu Lund 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 Hospital4 aut0 (Swepub:lu)med-aps
700	1	a Lemos, Joãou Center for Neuroscience and Cell Biology, University of Coimbra4 aut
700	1	a Januário, Cristinau Center for Neuroscience and Cell Biology, University of Coimbra4 aut
700	1	a LeDoux, Mark S4 aut
700	1	a Friedman, Joseph H4 aut
700	1	a Polke, James4 aut
700	1	a Labrum, Robin4 aut
700	1	a Shakkottai, Vikramu Western Michigan University4 aut
700	1	a McLoughlin, Hayley Su Western Michigan University4 aut
700	1	a Paulson, Henry Lu Western Michigan University4 aut
700	1	a Konno, Takuyau Niigata University4 aut
700	1	a Onodera, Osamuu Niigata University4 aut
700	1	a Ikeuchi, Takeshiu Niigata University4 aut
700	1	a Tada, Mariu Niigata University4 aut
700	1	a Kakita, Akiyoshiu Niigata University4 aut
700	1	a Fryer, John D4 aut
700	1	a Karremo, Christinu Lund 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 Hospital4 aut0 (Swepub:lu)med-crk
700	1	a Gomes, Inêsu Center for Neuroscience and Cell Biology, University of Coimbra4 aut
700	1	a Caviness, John Nu Nordsjællands Hospital4 aut
700	1	a Pittelkow, Mark R4 aut
700	1	a Aasly, Janu Norwegian University of Science and Technology4 aut
700	1	a Pfeiffer, Ronald Fu Oregon Health & Science University4 aut
700	1	a Veerappan, Venkau Oregon Health & Science University4 aut
700	1	a Eggenberger, Eric Ru Nordsjællands Hospital4 aut
700	1	a Freeman, William Du Nordsjællands Hospital4 aut
700	1	a Huang, Josephine Fu Nordsjællands Hospital4 aut
700	1	a Uitti, Ryan Ju Nordsjællands Hospital4 aut
700	1	a Wierenga, Klaas Ju Nordsjællands Hospital4 aut
700	1	a Marin Collazo, Iris Vu Nordsjællands Hospital4 aut
700	1	a Tipton, Philip Wu Nordsjællands Hospital4 aut
700	1	a van Gerpen, Jay Au University of South Alabama4 aut
700	1	a van Blitterswijk, Markau University of Geneva4 aut
700	1	a Bu, Guojunu University of Geneva4 aut
700	1	a Wszolek, Zbigniew Ku Nordsjællands Hospital4 aut
700	1	a Petrucelli, Leonardu Mayo Clinic Florida4 aut
710	2	a Mayo Clinic Floridab University of Geneva4 org
710	2	a et al.
773	0	t Science Translational Medicined : American Association for the Advancement of Science (AAAS)g 12:566q 12:566x 1946-6242x 1946-6234
856	4	u http://dx.doi.org/10.1126/scitranslmed.abb7086y FULLTEXT
856	4	u https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7927160
856	4 8	u https://lup.lub.lu.se/record/42b36459-f626-480d-a0be-379b916b24ed
856	4 8	u https://doi.org/10.1126/scitranslmed.abb7086

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By the author/editor: Prudencio, Merce ...; Garcia-Moreno, H ...; Jansen-West, Kar ...; Al-Shaikh, Rana ...; Gendron, Tania F; Heckman, Michael ...; show more...; Spiegel, Matthew ...; Carlomagno, Yari; Daughrity, Lilli ...; Song, Yuping; Dunmore, Judith ...; Byron, Natalie; Oskarsson, Björn; Nicholson, Katha ...; Staff, Nathan P; Gorcenco, Sorina; Puschmann, Andre ...; Lemos, João; Januário, Cristi ...; LeDoux, Mark S; Friedman, Joseph ...; Polke, James; Labrum, Robin; Shakkottai, Vikr ...; McLoughlin, Hayl ...; Paulson, Henry L; Konno, Takuya; Onodera, Osamu; Ikeuchi, Takeshi; Tada, Mari; Kakita, Akiyoshi; Fryer, John D; Karremo, Christi ...; Gomes, Inês; Caviness, John N; Pittelkow, Mark ...; Aasly, Jan; Pfeiffer, Ronald ...; Veerappan, Venka; Eggenberger, Eri ...; Freeman, William ...; Huang, Josephine ...; Uitti, Ryan J; Wierenga, Klaas ...; Marin Collazo, I ...; Tipton, Philip W; van Gerpen, Jay ...; van Blitterswijk ...; Bu, Guojun; Wszolek, Zbignie ...; Petrucelli, Leon ...; show less...

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MEDICAL AND HEALTH SCIENCES: MEDICAL AND HEAL ...; and Clinical Medicin ...; and Neurology

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By the university: Lund University

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