Sökresultat - "TDP‐43"

Myopathic aggregation-prone variants in the TDP-43 prion-like domain: genetics paving the way.

Ervilha Pereira P; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent 9000, Belgium.; Centre for Medical Genetics, Ghent University Hospital, Ghent 9000, Belgium., De Bleecker JL; Department of Neurology, Ghent University Hospital, Ghent 9000, Belgium.; Department of Head and Skin, Faculty of Medicine and Health Sciences, Ghent University, Ghent 9000, Belgium., Bogaert E; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent 9000, Belgium.; Centre for Medical Genetics, Ghent University Hospital, Ghent 9000, Belgium., Dermaut B; Department of Biomolecular Medicine, Faculty of Medicine and Health Sciences, Ghent University, Ghent 9000, Belgium.; Centre for Medical Genetics, Ghent University Hospital, Ghent 9000, Belgium.

Journal Article; Review , 2025

Optogenetic induction of TDP-43 aggregation impairs neuronal integrity and behavior in Caenorhabditis elegans.

Park KH; Department of Life Science, Multidisciplinary Genome Institute, Hallym University, Chuncheon, South Korea., Yu E; Department of Life Science, Multidisciplinary Genome Institute, Hallym University, Chuncheon, South Korea., Choi S; Department of Life Science, Multidisciplinary Genome Institute, Hallym University, Chuncheon, South Korea., Kim S; Department of Life Science, Multidisciplinary Genome Institute, Hallym University, Chuncheon, South Korea., Park C; Biometrology Group, Division of Biomedical Metrology, Korea Research Institute of Standards and Science, Daejeon, South Korea.; Graduate School of Analytical Science and Technology, Chungnam National University, Daejeon, South Korea., Lee JE; Biometrology Group, Division of Biomedical Metrology, Korea Research Institute of Standards and Science, Daejeon, South Korea.; Graduate School of Analytical Science and Technology, Chungnam National University, Daejeon, South Korea., Kim KW; Department of Life Science, Multidisciplinary Genome Institute, Hallym University, Chuncheon, South Korea. kwkim@hallym.ac.kr.

Journal Article , 2025

TDP-43 Cryptic RNAs in Perry Syndrome: Differences across Brain Regions and TDP-43 Proteinopathies.

Pickles SR; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.; Neurobiology of Disease Graduate Program, Mayo Graduate School, Mayo Clinic College of Medicine, Jacksonville, Florida, USA., Gonzalez Bejarano J; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Narayan A; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Daughrity L; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Maroto Cidfuentes C; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Reeves MM; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Yue M; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Castellanos Otero P; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Estades Ayuso V; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.; Neurobiology of Disease Graduate Program, Mayo Graduate School, Mayo Clinic College of Medicine, Jacksonville, Florida, USA., Dunmore J; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Song Y; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Tong J; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., DeTure M; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Rawlinson B; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Castanedes-Casey M; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA., Dulski J; Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.; Division of Neurological and Psychiatric Nursing, Faculty of Health Sciences, Medical University of Gdansk, Gdansk, Poland.; Neurology Department, St Adalbert Hospital, Copernicus PL Ltd., Gdansk, Poland., Cerquera-Cleves C; Department of Neurosciences, Neurology Unit, Hospital Universitario San Ignacio, Bogota, Colombia.; CHU de Québec Research Center, Axe Neurosciences, Université Laval, Quebec City, Quebec, Canada., Zhang Y; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.; Neurobiology of Disease Graduate Program, Mayo Graduate School, Mayo Clinic College of Medicine, Jacksonville, Florida, USA., Josephs KA; Department of Neurology, Mayo Clinic, Rochester, Minnesota, USA., Dickson DW; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.; Neurobiology of Disease Graduate Program, Mayo Graduate School, Mayo Clinic College of Medicine, Jacksonville, Florida, USA., Petrucelli L; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.; Neurobiology of Disease Graduate Program, Mayo Graduate School, Mayo Clinic College of Medicine, Jacksonville, Florida, USA., Wszolek ZK; Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA., Prudencio M; Department of Neuroscience, Mayo Clinic, Jacksonville, Florida, USA.; Neurobiology of Disease Graduate Program, Mayo Graduate School, Mayo Clinic College of Medicine, Jacksonville, Florida, USA.

Journal Article , 2025

Challenges of modelling TDP-43 pathology in mice.

Armas JMB; Unidad de Investigación Hospital Universitario de Canarias, Instituto de Investigación Sanitaria de Canarias, CIBERNED and ITB-ULL, Tenerife, Spain., Taoro-González L; Unidad de Investigación Hospital Universitario de Canarias, Instituto de Investigación Sanitaria de Canarias, CIBERNED and ITB-ULL, Tenerife, Spain., Fisher EMC; Department of Neuromuscular Diseases and Queen Square Motor Neuron Disease Centre, UCL Queen Square Institute of Neurology, London, UK. elizabeth.fisher@ucl.ac.uk., Acevedo-Arozena A; Unidad de Investigación Hospital Universitario de Canarias, Instituto de Investigación Sanitaria de Canarias, CIBERNED and ITB-ULL, Tenerife, Spain. aacevedo@ull.edu.es.

Journal Article; Review , 2025

Relation of Alzheimer's disease-related TDP-43 proteinopathy to metrics from diffusion tensor imaging (DTI) and neurite orientation dispersion and density imaging (NODDI).

Lavrova A; Department of Radiology, Mayo Clinic, Rochester, MN, USA., Pham NTT; Department of Radiology, Mayo Clinic, Rochester, MN, USA., Reid RI; Department of Information Technology, Mayo Clinic, Rochester, MN, USA., Boeve BF; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Knopman DS; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Petersen RC; Department of Neurology, Mayo Clinic, Rochester, MN, USA., Nguyen AT; Department of Laboratory Medicine and Pathology, Rochester, MN, USA., Ross Reichard R; Department of Laboratory Medicine and Pathology, Rochester, MN, USA., Dickson DW; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA., Jack CR Jr; Department of Radiology, Mayo Clinic, Rochester, MN, USA., Whitwell JL; Department of Radiology, Mayo Clinic, Rochester, MN, USA., Josephs KA; Department of Neurology, Mayo Clinic, Rochester, MN, USA. Electronic address: josephs.keith@mayo.edu.

Journal Article , 2025

Amyotrophic lateral sclerosis caused by TARDBP mutations: from genetics to TDP-43 proteinopathy.

Balendra R; Human Stem Cells and Neurodegeneration Laboratory, The Francis Crick Institute, London, UK; UK Dementia Research Institute at UCL, London, UK. Electronic address: r.balendra@ucl.ac.uk., Sreedharan J; Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK., Hallegger M; UK Dementia Research Institute at King's, London, UK; The Francis Crick Institute, London, UK; Oxford-GSK Institute of Molecular and Computational Medicine, Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK., Luisier R; Genomics and Health Informatics Group, Idiap Research Institute, Martigny, Switzerland., Lashuel HA; Laboratory of Molecular and Chemical Biology of Neurodegeneration, Institute of Bioengineering, School of Life Sciences, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland; Qatar Foundation, Doha, Qatar., Gregory JM; Institute of Medical Sciences, University of Aberdeen, UK., Patani R; Human Stem Cells and Neurodegeneration Laboratory, The Francis Crick Institute, London, UK; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology, London, UK. Electronic address: rickie.patani@ucl.ac.uk.

Journal Article; Review , 2025

LATE-NC Stage 3: a diagnostic rubric to differentiate severe LATE-NC from FTLD-TDP.

Shahidehpour RK; Sanders-Brown Center On Aging, University of Kentucky, Rm 575 Lee Todd Jr Bldg/U. Kentucky, 789 S. Limestone Ave, Lexington, KY, 40536, USA.; Department of Neuroscience, University of Kentucky, Lexington, KY, USA., Katsumata Y; Sanders-Brown Center On Aging, University of Kentucky, Rm 575 Lee Todd Jr Bldg/U. Kentucky, 789 S. Limestone Ave, Lexington, KY, 40536, USA.; Department of Biostatistics, University of Kentucky, Lexington, KY, 40536, USA., Dickson DW; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, 32224, USA., Ghayal NB; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, 32224, USA., Aung KZ; Sanders-Brown Center On Aging, University of Kentucky, Rm 575 Lee Todd Jr Bldg/U. Kentucky, 789 S. Limestone Ave, Lexington, KY, 40536, USA.; Department of Biostatistics, University of Kentucky, Lexington, KY, 40536, USA., Wu X; Sanders-Brown Center On Aging, University of Kentucky, Rm 575 Lee Todd Jr Bldg/U. Kentucky, 789 S. Limestone Ave, Lexington, KY, 40536, USA.; Department of Biostatistics, University of Kentucky, Lexington, KY, 40536, USA., Phe P; Sanders-Brown Center On Aging, University of Kentucky, Rm 575 Lee Todd Jr Bldg/U. Kentucky, 789 S. Limestone Ave, Lexington, KY, 40536, USA., Jicha GA; Sanders-Brown Center On Aging, University of Kentucky, Rm 575 Lee Todd Jr Bldg/U. Kentucky, 789 S. Limestone Ave, Lexington, KY, 40536, USA.; Department of Neurology, University of Kentucky, Lexington, KY, 40536, USA., Neltner AM; Sanders-Brown Center On Aging, University of Kentucky, Rm 575 Lee Todd Jr Bldg/U. Kentucky, 789 S. Limestone Ave, Lexington, KY, 40536, USA., Archer JRC; Sanders-Brown Center On Aging, University of Kentucky, Rm 575 Lee Todd Jr Bldg/U. Kentucky, 789 S. Limestone Ave, Lexington, KY, 40536, USA., Corrada MM; Department of Neurology, University of California, Irvine, CA, USA.; Department of Epidemiology and Biostatistics, University of California, Irvine, CA, USA., Kawas CH; Department of Neurology, University of California, Irvine, CA, USA.; Department of Neurobiology and Behavior, University of California, Irvine, CA, USA., Ahmad Sajjadi S; Department of Neurology, University of California, Irvine, CA, USA.; Department of Pathology and Laboratory Medicine, University of California, Irvine, CA, USA., Woodworth DC; Department of Neurology, University of California, Irvine, CA, USA., Bukhari SA; Department of Pathology, Stanford University, Stanford, CA, USA., Montine TJ; Department of Pathology, Stanford University, Stanford, CA, USA., Fardo DW; Sanders-Brown Center On Aging, University of Kentucky, Rm 575 Lee Todd Jr Bldg/U. Kentucky, 789 S. Limestone Ave, Lexington, KY, 40536, USA.; Department of Biostatistics, University of Kentucky, Lexington, KY, 40536, USA., Nelson PT; Sanders-Brown Center On Aging, University of Kentucky, Rm 575 Lee Todd Jr Bldg/U. Kentucky, 789 S. Limestone Ave, Lexington, KY, 40536, USA. peter.nelson@uky.edu.; Department of Neuroscience, University of Kentucky, Lexington, KY, USA. peter.nelson@uky.edu.; Department of Pathology and Laboratory Medicine, Division of Neuropathology, University of Kentucky, Lexington, KY, 40536, USA. peter.nelson@uky.edu.

Journal Article , 2025

Neuroimmune signaling mediates astrocytic nucleocytoplasmic disruptions and stress granule formation associated with TDP-43 pathology.

Zhou C; Weill Cornell/Rockefeller/Sloan Kettering Tri-Institutional MD-PhD Program, New York, NY, USA; Helen and Robert Appel Alzheimer's Disease Research Institute, New York, NY, USA; Feil Family Brain and Mind Research Institute, New York, NY, USA., Hardin EJ; Helen and Robert Appel Alzheimer's Disease Research Institute, New York, NY, USA; Feil Family Brain and Mind Research Institute, New York, NY, USA; Neuroscience Graduate Program, Weill Cornell Medicine, New York, NY, USA., Zimmer TS; Helen and Robert Appel Alzheimer's Disease Research Institute, New York, NY, USA; Feil Family Brain and Mind Research Institute, New York, NY, USA., Jackvony S; Helen and Robert Appel Alzheimer's Disease Research Institute, New York, NY, USA; Feil Family Brain and Mind Research Institute, New York, NY, USA; Neuroscience Graduate Program, Weill Cornell Medicine, New York, NY, USA., Barnett D; Helen and Robert Appel Alzheimer's Disease Research Institute, New York, NY, USA; Feil Family Brain and Mind Research Institute, New York, NY, USA; Neuroscience Graduate Program, Weill Cornell Medicine, New York, NY, USA., Khobrekar N; The Center for Stem Cell Biology, Sloan-Kettering Institute for Cancer Research, New York, NY, USA; Developmental Biology Program, Sloan-Kettering Institute for Cancer Research, New York, NY, USA., Giacomelli E; The Center for Stem Cell Biology, Sloan-Kettering Institute for Cancer Research, New York, NY, USA; Developmental Biology Program, Sloan-Kettering Institute for Cancer Research, New York, NY, USA., Studer L; The Center for Stem Cell Biology, Sloan-Kettering Institute for Cancer Research, New York, NY, USA; Developmental Biology Program, Sloan-Kettering Institute for Cancer Research, New York, NY, USA., Orr AL; Weill Cornell/Rockefeller/Sloan Kettering Tri-Institutional MD-PhD Program, New York, NY, USA; Helen and Robert Appel Alzheimer's Disease Research Institute, New York, NY, USA; Feil Family Brain and Mind Research Institute, New York, NY, USA; Neuroscience Graduate Program, Weill Cornell Medicine, New York, NY, USA., Orr AG; Weill Cornell/Rockefeller/Sloan Kettering Tri-Institutional MD-PhD Program, New York, NY, USA; Helen and Robert Appel Alzheimer's Disease Research Institute, New York, NY, USA; Feil Family Brain and Mind Research Institute, New York, NY, USA; Neuroscience Graduate Program, Weill Cornell Medicine, New York, NY, USA. Electronic address: ago2002@med.cornell.edu.

Journal Article , 2025

Graphene Quantum Dots Attenuate TDP-43 Proteinopathy in Amyotrophic Lateral Sclerosis.

Park NY; Department of Translational Biomedical Sciences, Graduate School of Dong-A University, Busan 49201, Korea., Heo Y; Biopharmaceutical Research Center, Korea Basic Science Institute, Cheongju 28119, Korea., Yang JW; Department of Translational Biomedical Sciences, Graduate School of Dong-A University, Busan 49201, Korea., Yoo JM; Chaperone Ventures, LLC., Los Angeles, California 90006, United States., Jang HJ; Department of Translational Biomedical Sciences, Graduate School of Dong-A University, Busan 49201, Korea., Jo JH; Department of Translational Biomedical Sciences, Graduate School of Dong-A University, Busan 49201, Korea., Park SJ; Department of Translational Biomedical Sciences, Graduate School of Dong-A University, Busan 49201, Korea., Lin Y; Biopharmaceutical Research Center, Korea Basic Science Institute, Cheongju 28119, Korea., Choi J; Biopharmaceutical Research Center, Korea Basic Science Institute, Cheongju 28119, Korea.; Chemical Analysis Team, Korea Basic Science Institute, Cheongju 28119, Korea., Jeon H; Dementia Research Group, Korea Brain Research Institute, Daegu 41062, Korea., Cha SJ; Dementia Research Group, Korea Brain Research Institute, Daegu 41062, Korea., Bae G; Department of Chemistry and Advanced Institute of Convergence Technology, Seoul National University, Seoul 08826, Korea., Kim D; Department of Translational Biomedical Sciences, Graduate School of Dong-A University, Busan 49201, Korea.; Department of Pharmacology, College of Medicine, Dong-A University, Busan 49201, Korea., Kim J; Mork Family Department of Chemical Engineering and Materials Science, University of Southern California, Los Angeles, California 90089, United States., Zeno W; Mork Family Department of Chemical Engineering and Materials Science, University of Southern California, Los Angeles, California 90089, United States., Park JB; Graphene Square Chemical Inc., Pohang 37673, Korea., Isozumi N; Department of Future Basic Medicine, Nara Medical University, Nara 634-8521, Japan., Saio T; Institute of Advanced Medical Sciences, Tokushima University, Tokushima 770-0855, Japan., Kim SH; Department of Neurology, College of Medicine, Hanyang University, Seoul 04763, Korea., Lee H; Biomanufacturing Center, Cedars-Sinai Medical Center, West Hollywood, California 90048, United States., Hong BH; Department of Chemistry and Advanced Institute of Convergence Technology, Seoul National University, Seoul 08826, Korea., Nahm M; Dementia Research Group, Korea Brain Research Institute, Daegu 41062, Korea., Lee YH; Biopharmaceutical Research Center, Korea Basic Science Institute, Cheongju 28119, Korea.; Bio-Analytical Science, University of Science and Technology, Daejeon 34113, Korea.; Graduate School of Analytical Science and Technology, Chungnam National University, Daejeon 34134, Korea.; Department of Systems Biotechnology, Chung-Ang University, Gyeonggi 17546, Korea.; Frontier Research Institute for Interdisciplinary Sciences, Tohoku University, Miyagi 980-8578, Japan., Hong YB; Department of Translational Biomedical Sciences, Graduate School of Dong-A University, Busan 49201, Korea.; Departments of Biochemistry, College of Medicine, Dong-A University, Busan 49201, Korea.

Journal Article; Research Support, Non-U.S. Gov't , 2025

Endogenous TDP-43 mislocalization in a novel knock-in mouse model reveals DNA repair impairment, inflammation, and neuronal senescence.

Mitra J; Division of DNA Repair Research, Center for Neuroregeneration, Department of Neurosurgery, Houston Methodist Research Institute, Houston, TX, 77030, USA. jmitra@houstonmethodist.org., Kodavati M; Division of DNA Repair Research, Center for Neuroregeneration, Department of Neurosurgery, Houston Methodist Research Institute, Houston, TX, 77030, USA., Dharmalingam P; Division of DNA Repair Research, Center for Neuroregeneration, Department of Neurosurgery, Houston Methodist Research Institute, Houston, TX, 77030, USA., Guerrero EN; Division of DNA Repair Research, Center for Neuroregeneration, Department of Neurosurgery, Houston Methodist Research Institute, Houston, TX, 77030, USA.; Gorgas Memorial Institute for Health Studies, Avenida Justo Arosemena y Calle 35, Panama City, Republic of Panama.; Sistema Nacional de Investigación, SENACYT, Panama City, Republic of Panama., Rao KS; Department of Biotechnology, Koneru Lakshmaiah Education Foundation Deemed to Be University, Green Fields, Vaddeswaram, Andhra Pradesh, 522502, India., Garruto RM; Department of Anthropology, Binghamton University, State University of New York, Binghamton, NY, 13902, USA.; Department of Biological Sciences, Binghamton University, State University of New York, Binghamton, NY, 13902, USA., Hegde ML; Division of DNA Repair Research, Center for Neuroregeneration, Department of Neurosurgery, Houston Methodist Research Institute, Houston, TX, 77030, USA. mlhegde@houstonmethodist.org.; Department of Neuroscience, Weill Cornell Medical College, New York, NY, 10065, USA. mlhegde@houstonmethodist.org.

Journal Article , 2025

Opposing roles of p38α-mediated phosphorylation and PRMT1-mediated arginine methylation in driving TDP-43 proteinopathy.

Aikio M; AstraZeneca-Tufts Laboratory for Basic and Translational Neuroscience, Department of Neuroscience, Tufts University, Boston, MA 02111, USA; Neumora Therapeutics, Watertown, MA 02472, USA., Odeh HM; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Wobst HJ; Neuroscience, BioPharmaceuticals R&D, AstraZeneca, Waltham, MA 02451, USA., Lee BL; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Chan Ú; Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, CA 94158, USA., Mauna JC; Department of Neurobiology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA; LiveLikeLou Center for ALS Research, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA; University of Pittsburgh Brain Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA., Mack KL; Neumora Therapeutics, Watertown, MA 02472, USA; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Biochemistry and Molecular Biophysics Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Class B; Neuroscience, BioPharmaceuticals R&D, AstraZeneca, Waltham, MA 02451, USA., Ollerhead TA; AstraZeneca-Tufts Laboratory for Basic and Translational Neuroscience, Department of Neuroscience, Tufts University, Boston, MA 02111, USA., Ford AF; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Neuroscience Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Barbieri EM; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Cupo RR; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Pharmacology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Drake LE; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Smalley JL; AstraZeneca-Tufts Laboratory for Basic and Translational Neuroscience, Department of Neuroscience, Tufts University, Boston, MA 02111, USA., Lin YT; Neumora Therapeutics, Watertown, MA 02472, USA., Lam S; Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, CA 94158, USA., Thomas R; Gladstone Institute of Data Science and Biotechnology, Gladstone Institutes, San Francisco, CA 94158, USA., Castello N; Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, CA 94158, USA., Baral A; Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, CA 94158, USA., Beyer JN; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Biochemistry and Molecular Biophysics Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Najar MA; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Dunlop J; Neumora Therapeutics, Watertown, MA 02472, USA; Neuroscience, BioPharmaceuticals R&D, AstraZeneca, Waltham, MA 02451, USA., Gitler AD; Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA., Javaherian A; Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, CA 94158, USA., Kaye JA; Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, CA 94158, USA; Taube/Koret Center for Neurodegenerative Disease Research, Gladstone Institutes, San Francisco, CA 94158, USA., Burslem GM; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Biochemistry and Molecular Biophysics Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Pharmacology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA., Brown DG; Hit Discovery, Discovery Sciences, BioPharmaceuticals R&D, AstraZeneca, Waltham, MA 02451, USA., Donnelly CJ; Department of Neurobiology, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA; LiveLikeLou Center for ALS Research, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA; University of Pittsburgh Brain Institute, University of Pittsburgh School of Medicine, Pittsburgh, PA 15261, USA., Finkbeiner S; Center for Systems and Therapeutics, Gladstone Institutes, San Francisco, CA 94158, USA; Taube/Koret Center for Neurodegenerative Disease Research, Gladstone Institutes, San Francisco, CA 94158, USA; Deparments of Neurology and Physiology, Neuroscience Graduate Program and Biomedical Sciences Program, University of California, San Francisco, San Francisco, CA 94158, USA., Moss SJ; AstraZeneca-Tufts Laboratory for Basic and Translational Neuroscience, Department of Neuroscience, Tufts University, Boston, MA 02111, USA., Brandon NJ; AstraZeneca-Tufts Laboratory for Basic and Translational Neuroscience, Department of Neuroscience, Tufts University, Boston, MA 02111, USA; Neumora Therapeutics, Watertown, MA 02472, USA; Neuroscience, BioPharmaceuticals R&D, AstraZeneca, Waltham, MA 02451, USA., Shorter J; Department of Biochemistry and Biophysics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Biochemistry and Molecular Biophysics Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Neuroscience Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA; Pharmacology Graduate Group, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA. Electronic address: jshorter@pennmedicine.upenn.edu.

Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S. , 2025

Modeling of TDP-43 proteinopathy by chronic oxidative stress identifies rapamycin as beneficial in ALS patient-derived 2D and 3D iPSC models.

Casiraghi V; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Via Fratelli Cervi 93, 20090 Segrate, Milan, Italy., Sorce MN; Department of Neuroscience - Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149 Milan, Italy., Santangelo S; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Via Fratelli Cervi 93, 20090 Segrate, Milan, Italy., Invernizzi S; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Via Fratelli Cervi 93, 20090 Segrate, Milan, Italy., Bossolasco P; Department of Neuroscience - Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149 Milan, Italy., Lattuada C; Department of Neuroscience - Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149 Milan, Italy., Battaglia C; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Via Fratelli Cervi 93, 20090 Segrate, Milan, Italy., Venturin M; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Via Fratelli Cervi 93, 20090 Segrate, Milan, Italy., Silani V; Department of Neuroscience - Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149 Milan, Italy; 'Dino Ferrari' Center, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Via Francesco Sforza 35, 20122 Milan, Italy., Colombrita C; Department of Neuroscience - Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149 Milan, Italy., Ratti A; Department of Medical Biotechnology and Translational Medicine, Università degli Studi di Milano, Via Fratelli Cervi 93, 20090 Segrate, Milan, Italy; Department of Neuroscience - Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Piazzale Brescia 20, 20149 Milan, Italy. Electronic address: a.ratti@auxologico.it.

Journal Article , 2025

Clinical criteria for limbic-predominant age-related TDP-43 encephalopathy.

Wolk DA; University of Pennsylvania, Philadelphia, Pennsylvania, USA., Nelson PT; University of Kentucky, Lexington, Kentucky, USA., Apostolova L; Indiana University School of Medicine, Indianapolis, Indiana, USA., Arfanakis K; Rush University Medical Center, Chicago, Illinois, USA.; Illinois Institute of Technology, Chicago, Illinois, USA., Boyle PA; Rush University Medical Center, Chicago, Illinois, USA., Carlsson CM; University of Wisconsin, Madison, Wisconsin, USA., Corriveau-Lecavalier N; Mayo Clinic, Rochester, Minnesota, USA., Dacks P; The Association for Frontotemporal Degeneration, King of Prussia, Pennsylvania, USA., Dickerson BC; Massachusetts General Hospital/ Harvard University, Boston, Massachusetts, USA., Domoto-Reilly K; UW Alzheimer's Disease Research Center, University of Washington, Seattle, Washington, USA., Dugger BN; University of California, Sacramento, California, USA., Edelmayer R; Alzheimer's Association, Chicago, Illinois, USA., Fardo DW; University of Kentucky, Lexington, Kentucky, USA., Grothe MJ; Reina Sofia Alzheimer Center, CIEN Foundation, Madrid, Spain., Hohman TJ; Vanderbilt University, Nashville, Tennessee, USA., Irwin DJ; University of Pennsylvania, Philadelphia, Pennsylvania, USA., Jicha GA; University of Kentucky, Lexington, Kentucky, USA., Jones DT; Mayo Clinic, Rochester, Minnesota, USA., Kawas CH; University of California, Irvine, California, USA., Lee EB; University of Pennsylvania, Philadelphia, Pennsylvania, USA., Lincoln K; University of California, Irvine, California, USA., Maestre GE; University of Texas Rio Grande Valley, Brownsville, Texas, USA., Mormino EC; Stanford University, Palo Alto, California, USA., Onyike CU; Johns Hopkins University, Baltimore, Maryland, USA., Petersen RC; Mayo Clinic, Rochester, Minnesota, USA., Rabinovici GD; University of California, San Francisco, California, USA., Rademakers R; VIB Center for Molecular Neurology, Antwerp, Belgium.; University of Antwerp, Antwerp, Belgium., Raman R; Alzheimer's Therapeutic Research Institute, University of Southern California, San Diego, California, USA., Rascovsky K; University of Pennsylvania, Philadelphia, Pennsylvania, USA., Rissman RA; University of California, La Jolla, California, USA., Rogalski E; Healthy Aging & Alzheimer's Care (HAARC) Center, Department of Neurology, University of Chicago, Chicago, Illinois, USA., Scheltens P; Amsterdam University Medical Centers, Amsterdam, Netherlands., Sperling RA; Harvard Medical School, Brigham and Women's Hospital, Massachusetts General Hospital, Boston, Massachusetts, USA., Yang HS; Harvard Medical School, Brigham and Women's Hospital, Massachusetts General Hospital, Boston, Massachusetts, USA., Yu L; Rush University Medical Center, Chicago, Illinois, USA., Zetterberg H; University of Wisconsin, Madison, Wisconsin, USA.; University of Gothenburg, Gothenburg, Sweden.; Institute of Neurology, University College London, London, UK., Schneider JA; Rush University Medical Center, Chicago, Illinois, USA.

Journal Article; Review , 2025

TMEM106B deficiency leads to alterations in lipid metabolism and obesity in the TDP-43 ^Q331K knock-in mouse model.

Yang C; Department of Molecular Biology and Genetics, Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY, USA., Lee GB; Department of Chemistry and Biochemistry, University of Maryland, College Park, MD, US., Hao L; Department of Chemistry and Biochemistry, University of Maryland, College Park, MD, US., Hu F; Department of Molecular Biology and Genetics, Weill Institute for Cell and Molecular Biology, Cornell University, Ithaca, NY, USA. fh87@cornell.edu.

Journal Article , 2025

Limbic-predominant age-related TDP-43 encephalopathy in the oldest old: a population-based study.

Mikhailenko E; Department of Pathology, University of Helsinki, 00014 Helsinki, Finland., Colangelo K; Department of Pathology, University of Helsinki, 00014 Helsinki, Finland., Tuimala J; Department of Pathology, University of Helsinki, 00014 Helsinki, Finland., Kero M; Department of Pathology, University of Helsinki, 00014 Helsinki, Finland.; Department of Pathology, HUS Diagnostic Center, Helsinki University Hospital, 00029 Helsinki, Finland., Savola S; Department of Pathology, University of Helsinki, 00014 Helsinki, Finland.; Department of Pathology, HUS Diagnostic Center, Helsinki University Hospital, 00029 Helsinki, Finland., Raunio A; Department of Pathology, University of Helsinki, 00014 Helsinki, Finland.; Department of Pathology, HUS Diagnostic Center, Helsinki University Hospital, 00029 Helsinki, Finland., Kok EH; Department of Pathology, University of Helsinki, 00014 Helsinki, Finland., Tanskanen M; Department of Pathology, University of Helsinki, 00014 Helsinki, Finland., Mäkelä M; Department of Pathology, University of Helsinki, 00014 Helsinki, Finland., Puttonen H; Department of Pathology, University of Helsinki, 00014 Helsinki, Finland.; Department of Pathology, HUS Diagnostic Center, Helsinki University Hospital, 00029 Helsinki, Finland., Mäyränpää MI; Department of Pathology, University of Helsinki, 00014 Helsinki, Finland.; Department of Pathology, HUS Diagnostic Center, Helsinki University Hospital, 00029 Helsinki, Finland., Kumar D; Aiforia Technologies Plc., 00150 Helsinki, Finland., Kaivola K; Translational Immunology, Research Programs Unit, University of Helsinki, Helsinki, 00014 Finland.; Department of Neurology, University of Helsinki and Helsinki University Hospital, 00014 Helsinki, Finland., Paetau A; Department of Pathology, University of Helsinki, 00014 Helsinki, Finland.; Department of Pathology, HUS Diagnostic Center, Helsinki University Hospital, 00029 Helsinki, Finland., Tienari PJ; Translational Immunology, Research Programs Unit, University of Helsinki, Helsinki, 00014 Finland.; Department of Neurology, University of Helsinki and Helsinki University Hospital, 00014 Helsinki, Finland., Polvikoski T; Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne NE1 7RU, UK., Myllykangas L; Department of Pathology, University of Helsinki, 00014 Helsinki, Finland.; Department of Pathology, HUS Diagnostic Center, Helsinki University Hospital, 00029 Helsinki, Finland.

Journal Article , 2025

New criteria to predict LATE-NC in the clinical setting: Probable/Possible LATE and LANS.

Nelson PT; Sanders-Brown Center on Aging, Division of Neuropathology, Department of Pathology, University of Kentucky, Lexington, KY 40536, United States.

Journal Article; Review , 2025

Examining the potential involvement of NONO in TDP-43 proteinopathy in Drosophila.

Koch R; Department of Genetics and Evolution and Institute of Genetics and Genomics of Geneva (iGE3), University of Geneva, Geneva, Switzerland., Nagoshi E; Department of Genetics and Evolution and Institute of Genetics and Genomics of Geneva (iGE3), University of Geneva, Geneva, Switzerland.

Journal Article , 2025

TDP-43 nuclear condensation and neurodegenerative proteinopathies.

Vassallu F; IFIBIO Houssay, Grupo de Neurociencia de Sistemas, Facultad de Medicina, Universidad de Buenos Aires - CONICET, Buenos Aires, Argentina., Igaz LM; IFIBIO Houssay, Grupo de Neurociencia de Sistemas, Facultad de Medicina, Universidad de Buenos Aires - CONICET, Buenos Aires, Argentina. Electronic address: lmuller@fmed.uba.ar.

Journal Article , 2024

Limbic-predominant age-related TDP-43 encephalopathy neuropathological change (LATE-NC) is associated with abnormalities in white matter structural integrity and connectivity: An ex-vivo diffusion MRI and pathology investigation.

Tazwar M; Department of Biomedical Engineering, Illinois Institute of Technology, Chicago, IL, USA., Evia AM; Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA., Ridwan AR; Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA., Leurgans SE; Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA; Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA., Bennett DA; Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA; Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA., Schneider JA; Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA; Department of Neurological Sciences, Rush University Medical Center, Chicago, IL, USA; Department of Pathology, Rush University Medical Center, Chicago, IL, USA., Arfanakis K; Department of Biomedical Engineering, Illinois Institute of Technology, Chicago, IL, USA; Rush Alzheimer's Disease Center, Rush University Medical Center, Chicago, IL, USA; Department of Diagnostic Radiology, Rush University Medical Center, Chicago, IL, USA. Electronic address: konstantinos_arfanakis@rush.edu.

Journal Article , 2024

TDP-43 proteinopathy in frontotemporal lobar degeneration and amyotrophic lateral sclerosis: From pathomechanisms to therapeutic strategies.

Ho PC; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Hsieh TC; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan., Tsai KJ; Institute of Clinical Medicine, College of Medicine, National Cheng Kung University, Tainan, Taiwan; Research Center of Clinical Medicine, National Cheng Kung University Hospital, College of Medicine, National Cheng Kung University, Tainan, Taiwan. Electronic address: kjtsai@mail.ncku.edu.tw.

Journal Article; Review , 2024