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Splice modulators target PMS1 to reduce somatic expansion of the Huntington's disease-associated CAG repeat.

학술저널

issue: Nature communications [Nat Commun] 2024 Apr 12; Vol. 15 (1), pp. 3182. Date of Electronic Publication: 2024 Apr 12.
Author: McLean ZL; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA.
Gao D; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA.
Correia K; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Roy JCL; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.
Shibata S; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA.
Farnum IN; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Valdepenas-Mellor Z; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Kovalenko M; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Rapuru M; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Morini E; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.
Ruliera J; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Gillis T; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Lucente D; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.
Kleinstiver BP; Center for Genomic Medicine and Department of Pathology, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Pathology, Harvard Medical School, Boston, MA, 02115, USA.
Lee JM; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA.
MacDonald ME; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA.
Wheeler VC; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA.
Mouro Pinto R; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA, 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA.
Gusella JF; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA. jgusella@mgh.harvard.edu.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA, 02142, USA. jgusella@mgh.harvard.edu.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, 02115, USA. jgusella@mgh.harvard.edu.
DB Label: Database : MEDLINE

원문보기: Open Access (PubMed Central) OA (Nature) OA (Springer) 조회 - Impact Factor (JCR) 등재 - Web of Science (SCIE) 등재 - SCOPUS

PMS1 as a target for splice modulation to prevent somatic CAG repeat expansion in Huntington's disease.

issue: BioRxiv : the preprint server for biology [bioRxiv] 2023 Jul 27. Date of Electronic Publication: 2023 Jul 27.
Author: McLean ZL; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA.
Gao D; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA.
Correia K; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Roy JCL; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Shibata S; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA.
Farnum IN; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Valdepenas-Mellor Z; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Rapuru M; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Morini E; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Ruliera J; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Gillis T; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Lucente D; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Kleinstiver BP; Center for Genomic Medicine and Department of Pathology, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Pathology, Harvard Medical School, Boston, MA 02115, USA.
Lee JM; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA.
MacDonald ME; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA.
Wheeler VC; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Pinto RM; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA.
Gusella JF; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Medical and Population Genetics Program, the Broad Institute of M.I.T. and Harvard, Cambridge, MA 02142, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA 02115, USA.
DB Label: Database : MEDLINE

Somatic CAG expansion in Huntington's disease is dependent on the MLH3 endonuclease domain, which can be excluded via splice redirection.

학술저널

issue: Nucleic acids research [Nucleic Acids Res] 2021 Apr 19; Vol. 49 (7), pp. 3907-3918.
Author: Roy JCL; Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.
Vitalo A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Andrew MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Mota-Silva E; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Kovalenko M; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Burch Z; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Nhu AM; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.
Cohen PE; Department of Biomedical Sciences, Cornell University, Ithaca, NY 14853, USA.; Center for Reproductive Genomics, Cornell University, Ithaca, NY 14853, USA.
Grabczyk E; Department of Genetics, Louisiana State University Health Sciences Center, New Orleans, LA 70112, USA.
Wheeler VC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
Mouro Pinto R; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
DB Label: Database : MEDLINE

원문보기: Open Access (PubMed Central) Open Access (OUP) 조회 - Impact Factor (JCR) 등재 - Web of Science (SCIE)

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