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Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.

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Title: Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.
Authors: Yadav R; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Vaine CA; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Domingo A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Reed S; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Shah S; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Gao D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Keefe K; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Salani M; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lemanski J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Bhavsar R; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., McMahon MA; Ionis Pharmaceuticals, Carlsbad, CA, USA., Jackson M; Ionis Pharmaceuticals, Carlsbad, CA, USA., Courtney M; Ionis Pharmaceuticals, Carlsbad, CA, USA., Murcar MG; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Fernandez-Cerado C; Sunshine Care Foundation, 5800 Roxas City, Capiz, Philippines., Legarda GPA; Sunshine Care Foundation, 5800 Roxas City, Capiz, Philippines., Sy M; Sunshine Care Foundation, 5800 Roxas City, Capiz, Philippines., Velasco-Andrada MS; Sunshine Care Foundation, 5800 Roxas City, Capiz, Philippines., Muñoz EL; Department of Pathology, College of Medicine, University of the Philippines, Manila, Philippines., Ang MAC; Department of Pathology, College of Medicine, University of the Philippines, Manila, Philippines., Diesta CCE; Movement Center of Makati Med Institute of Neurological, Neurosurgical and Behavioral Sciences, Makati City, Philippines., Erdin S; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Penney EB; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA., Ozelius L; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Sharma N; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Bennett CF; Ionis Pharmaceuticals, Carlsbad, CA, USA., Bragg DC; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Oct 13. Date of Electronic Publication: 2025 Oct 13.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
An: 41282719
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
PreciseRelevancyScore: 0
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  Data: Therapeutic targeting of alternative splicing caused by a lethal noncoding structural variant in X-linked dystonia parkinsonism.
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  Data: <searchLink fieldCode="AU" term="%22Yadav+R%22">Yadav R</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.<br /><searchLink fieldCode="AU" term="%22Vaine+CA%22">Vaine CA</searchLink>; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.<br /><searchLink fieldCode="AU" term="%22Domingo+A%22">Domingo A</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.<br /><searchLink fieldCode="AU" term="%22Reed+S%22">Reed S</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Shah+S%22">Shah S</searchLink>; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.<br /><searchLink fieldCode="AU" term="%22Gao+D%22">Gao D</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22O'Keefe+K%22">O'Keefe K</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Salani+M%22">Salani M</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Lemanski+J%22">Lemanski J</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Bhavsar+R%22">Bhavsar R</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22McMahon+MA%22">McMahon MA</searchLink>; Ionis Pharmaceuticals, Carlsbad, CA, USA.<br /><searchLink fieldCode="AU" term="%22Jackson+M%22">Jackson M</searchLink>; Ionis Pharmaceuticals, Carlsbad, CA, USA.<br /><searchLink fieldCode="AU" term="%22Courtney+M%22">Courtney M</searchLink>; Ionis Pharmaceuticals, Carlsbad, CA, USA.<br /><searchLink fieldCode="AU" term="%22Murcar+MG%22">Murcar MG</searchLink>; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.<br /><searchLink fieldCode="AU" term="%22Fernandez-Cerado+C%22">Fernandez-Cerado C</searchLink>; Sunshine Care Foundation, 5800 Roxas City, Capiz, Philippines.<br /><searchLink fieldCode="AU" term="%22Legarda+GPA%22">Legarda GPA</searchLink>; Sunshine Care Foundation, 5800 Roxas City, Capiz, Philippines.<br /><searchLink fieldCode="AU" term="%22Sy+M%22">Sy M</searchLink>; Sunshine Care Foundation, 5800 Roxas City, Capiz, Philippines.<br /><searchLink fieldCode="AU" term="%22Velasco-Andrada+MS%22">Velasco-Andrada MS</searchLink>; Sunshine Care Foundation, 5800 Roxas City, Capiz, Philippines.<br /><searchLink fieldCode="AU" term="%22Muñoz+EL%22">Muñoz EL</searchLink>; Department of Pathology, College of Medicine, University of the Philippines, Manila, Philippines.<br /><searchLink fieldCode="AU" term="%22Ang+MAC%22">Ang MAC</searchLink>; Department of Pathology, College of Medicine, University of the Philippines, Manila, Philippines.<br /><searchLink fieldCode="AU" term="%22Diesta+CCE%22">Diesta CCE</searchLink>; Movement Center of Makati Med Institute of Neurological, Neurosurgical and Behavioral Sciences, Makati City, Philippines.<br /><searchLink fieldCode="AU" term="%22Erdin+S%22">Erdin S</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Penney+EB%22">Penney EB</searchLink>; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; The Collaborative Center for X-Linked Dystonia-Parkinsonism, Massachusetts General Hospital, Charlestown, MA, USA.<br /><searchLink fieldCode="AU" term="%22Ozelius+L%22">Ozelius L</searchLink>; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Sharma+N%22">Sharma N</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Bennett+CF%22">Bennett CF</searchLink>; Ionis Pharmaceuticals, Carlsbad, CA, USA.<br /><searchLink fieldCode="AU" term="%22Bragg+DC%22">Bragg DC</searchLink>; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Talkowski+ME%22">Talkowski ME</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
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