pTDP-43 levels correlate with cell type specific molecular alterations in the prefrontal cortex of C9orf72 ALS/FTD patients.

Autor: Wang HV; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322.; Emory Center for Neurodegenerative Diseases, Emory University School of Medicine, Atlanta, GA 30322., Xiang JF; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322., Yuan C; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322.; Department of Biostatistics and Bioinformatics, Rollins School of Public Health, Emory University, Atlanta, GA, 30322, USA., Veire AM; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224., Gendron TF; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224., Murray ME; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224., Tansey MG; Center for Translational Research in Neurodegenerative Disease, University of Florida, Gainesville, FL 32607.; Norman Fixel Institute for Neurological Diseases, University of Florida, Gainesville, FL 32607., Hu J; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322.; Department of Biostatistics and Bioinformatics, Rollins School of Public Health, Emory University, Atlanta, GA, 30322, USA., Gearing M; Emory Center for Neurodegenerative Diseases, Emory University School of Medicine, Atlanta, GA 30322.; Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322.; Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA 30322., Glass JD; Emory Center for Neurodegenerative Diseases, Emory University School of Medicine, Atlanta, GA 30322.; Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322., Jin P; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322.; Emory Center for Neurodegenerative Diseases, Emory University School of Medicine, Atlanta, GA 30322., Corces VG; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322.; Emory Center for Neurodegenerative Diseases, Emory University School of Medicine, Atlanta, GA 30322., McEachin ZT; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322.; Emory Center for Neurodegenerative Diseases, Emory University School of Medicine, Atlanta, GA 30322.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Jun 13. Date of Electronic Publication: 2024 Jun 13.

Aberrant splicing exonizes C9ORF72 repeat expansion in ALS/FTD.

Autor: Yang S; Department of Neuroscience, Yale University School of Medicine, New Haven, CT 06520, USA.; Interdepartmental Neuroscience Program, Yale University, New Haven, CT 06520, USA., Wijegunawardana D; Department of Neuroscience, Yale University School of Medicine, New Haven, CT 06520, USA.; Interdepartmental Neuroscience Program, Yale University, New Haven, CT 06520, USA., Sheth U; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences; Jacksonville, FL 32224, USA.; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA., Veire AM; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences; Jacksonville, FL 32224, USA.; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA., Salgado JMS; Department of Neuroscience, Yale University School of Medicine, New Haven, CT 06520, USA., Agrawal M; Department of Neuroscience, Yale University School of Medicine, New Haven, CT 06520, USA., Zhou J; Department of Neuroscience, Yale University School of Medicine, New Haven, CT 06520, USA., Pereira JD; Department of Neuroscience, Yale University School of Medicine, New Haven, CT 06520, USA., Gendron TF; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences; Jacksonville, FL 32224, USA.; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA., Guo JU; Department of Neuroscience, Yale University School of Medicine, New Haven, CT 06520, USA.; Interdepartmental Neuroscience Program, Yale University, New Haven, CT 06520, USA.; Program in Cellular Neuroscience, Neurodegeneration, and Repair, Yale University School of Medicine, New Haven, CT 06520, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2023 Nov 14. Date of Electronic Publication: 2023 Nov 14.

Comprehensive cross-sectional and longitudinal analyses of plasma neurofilament light across FTD spectrum disorders.

Autor: Gendron TF; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA; Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic, Jacksonville, FL 32224, USA. Electronic address: Gendron.Tania@mayo.edu., Heckman MG; Division of Clinical Trials and Biostatistics, Mayo Clinic, Jacksonville, FL 32224, USA., White LJ; Division of Clinical Trials and Biostatistics, Mayo Clinic, Jacksonville, FL 32224, USA., Veire AM; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA., Pedraza O; Department of Psychiatry & Psychology, Mayo Clinic, Jacksonville, FL 32224, USA., Burch AR; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA., Bozoki AC; Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Dickerson BC; Department of Neurology, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA., Domoto-Reilly K; Department of Neurology, University of Washington, Seattle, WA 98104, USA., Foroud T; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA., Forsberg LK; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA., Galasko DR; Parkinson and Other Movement Disorder Center, Department of Neuroscience, University of California, San Diego, La Jolla, CA 92037, USA., Ghoshal N; Department of Neurology, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Psychiatry, Washington University School of Medicine, St. Louis, MO 63110, USA., Graff-Radford NR; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA., Grossman M; Department of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA., Heuer HW; Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA., Huey ED; Department of Psychiatry, Taub Institute, Columbia University, New York, NY 10032, USA; Department of Neurology, Taub Institute, Columbia University, New York, NY 10032, USA., Hsiung GR; Centre for Brain Health, Department of Medicine, University of British Columbia, Vancouver, BC V6T 1Z3, Canada., Irwin DJ; Department of Neurology, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA., Kaufer DI; Department of Neurology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA., Leger GC; Parkinson and Other Movement Disorder Center, Department of Neuroscience, University of California, San Diego, La Jolla, CA 92037, USA., Litvan I; Parkinson and Other Movement Disorder Center, Department of Neuroscience, University of California, San Diego, La Jolla, CA 92037, USA., Masdeu JC; Nantz National Alzheimer Center, Stanley H. Appel Department of Neurology, Houston Methodist Research Institute, Weill Cornell Medicine, Houston, TX 77030, USA., Mendez MF; Department of Neurology, University of California at Los Angeles, Los Angeles, CA 90095, USA; Department of Psychiatry and Biobehavioral Sciences, University of California at Los Angeles, Los Angeles, CA 90095, USA., Onyike CU; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University, Baltimore, MD 21287, USA., Pascual B; Nantz National Alzheimer Center, Stanley H. Appel Department of Neurology, Houston Methodist Research Institute, Weill Cornell Medicine, Houston, TX 77030, USA., Ritter A; Neurological Institute, Cleveland Clinic Lou Ruvo Center for Brain Health, Las Vegas, NV 89106, USA., Roberson ED; Center for Neurodegeneration and Experimental Therapeutics, Alzheimer's Disease Center, Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Rojas JC; Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA., Tartaglia MC; Krembil Brain Institute, Tanz Centre for Research in Neurodegenerative Diseases, Division of Neurology, Department of Medicine, University of Toronto, Toronto, ON M5S 1A8, Canada., Wszolek ZK; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA., Rosen H; Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA., Boeve BF; Department of Neurology, Mayo Clinic, Rochester, MN 55905, USA., Boxer AL; Memory and Aging Center, Department of Neurology, Weill Institute for Neurosciences, University of California, San Francisco, San Francisco, CA 94158, USA., Petrucelli L; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA; Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic, Jacksonville, FL 32224, USA. Electronic address: Petrucelli.Leonard@mayo.edu.

Publikováno v: Cell reports. Medicine [Cell Rep Med] 2022 Apr 19; Vol. 3 (4), pp. 100607. Date of Electronic Publication: 2022 Apr 19 (Print Publication: 2022).