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Wyszukujesz frazę ""DNA Repeat Expansion"" wg kryterium: Temat


Tytuł :
Extreme Enlargement of the Inverted Repeat Region in the Plastid Genomes of Diatoms from the Genus Climaconeis .
Autorzy :
Gastineau R; Institute of Marine and Environmental Sciences, University of Szczecin, Mickiewicza 16a, 70-383 Szczecin, Poland.
Davidovich NA; Institute of Marine and Environmental Sciences, University of Szczecin, Mickiewicza 16a, 70-383 Szczecin, Poland.; Karadag Scientific Station-Natural Reserve of the Russian Academy of Sciences, p/o Kurortnoe, Feodosiya, 98188 Crimea, Russia.
Davidovich OI; Karadag Scientific Station-Natural Reserve of the Russian Academy of Sciences, p/o Kurortnoe, Feodosiya, 98188 Crimea, Russia.
Lemieux C; Département de Biochimie, de Microbiologie et de Bio-Informatique, Institut de Biologie Intégrative et des Systèmes, Université Laval, Québec, QC G1V 0A6, Canada.
Turmel M; Département de Biochimie, de Microbiologie et de Bio-Informatique, Institut de Biologie Intégrative et des Systèmes, Université Laval, Québec, QC G1V 0A6, Canada.
Wróbel RJ; Engineering of Catalytic and Sorbent Materials Department, Faculty of Chemical Technology and Engineering, West Pomeranian University of Technology Szczecin, Pułaskiego 10, 70-322 Szczecin, Poland.
Witkowski A; Institute of Marine and Environmental Sciences, University of Szczecin, Mickiewicza 16a, 70-383 Szczecin, Poland.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Jul 02; Vol. 22 (13). Date of Electronic Publication: 2021 Jul 02.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Repeat Expansion*
Genome, Plastid*
Inverted Repeat Sequences*
Diatoms/*genetics
Diatoms/ultrastructure
Czasopismo naukowe
Tytuł :
Crystal structure of parallel G-quadruplex formed by the two-repeat ALS- and FTD-related GGGGCC sequence.
Autorzy :
Geng Y; Division of Life Science, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 00000, China.
Liu C; Division of Life Science, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 00000, China.
Cai Q; Division of Life Science, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 00000, China.
Luo Z; Institute of Molecular Enzymology, School of Biology and Basic Medical Sciences, Soochow University, Suzhou, Jiangsu, 215123, China.
Miao H; Division of Life Science, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 00000, China.
Shi X; Division of Life Science, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 00000, China.
Xu N; Division of Life Science, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 00000, China.
Fung CP; Division of Life Science, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 00000, China.
Choy TT; Division of Life Science, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 00000, China.
Yan B; Division of Life Science, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 00000, China.
Li N; Division of Life Science, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 00000, China.
Qian P; Hong Kong Branch of Southern Marine Science and Engineering Guangdong Laboratory (Guangzhou), Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 00000, China.
Zhou B; Division of Life Science, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 00000, China.; Institute for Advanced Study, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 00000, China.
Zhu G; Division of Life Science, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 00000, China.; Hong Kong Branch of Southern Marine Science and Engineering Guangdong Laboratory (Guangzhou), Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 00000, China.; State Key Laboratory of Molecular Neuroscience, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, 00000, China.
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Źródło :
Nucleic acids research [Nucleic Acids Res] 2021 Jun 04; Vol. 49 (10), pp. 5881-5890.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Repeat Expansion*
G-Quadruplexes*
Amyotrophic Lateral Sclerosis/*genetics
C9orf72 Protein/*chemistry
C9orf72 Protein/*genetics
DNA/*chemistry
Frontotemporal Dementia/*genetics
Repetitive Sequences, Nucleic Acid/*genetics
Circular Dichroism ; Cytosine/chemistry ; Dimerization ; Humans ; Hydrogen Bonding ; Magnetic Resonance Spectroscopy ; Models, Molecular ; Protein Conformation
Czasopismo naukowe
Tytuł :
REscan: inferring repeat expansions and structural variation in paired-end short read sequencing data.
Autorzy :
McLaughlin RL; Smurfit Institute of Genetics, Trinity College Dublin, Dublin D02 PN40, Ireland.
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Źródło :
Bioinformatics (Oxford, England) [Bioinformatics] 2021 May 05; Vol. 37 (6), pp. 871-872.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
Amyotrophic Lateral Sclerosis*/genetics
DNA Repeat Expansion*
C9orf72 Protein/genetics ; Genome ; Humans ; Repetitive Sequences, Nucleic Acid ; Software
Czasopismo naukowe
Tytuł :
Supramolecular Polymorphism of (G 4 C 2 ) n Repeats Associated with ALS and FTD.
Autorzy :
Potrč M; Faculty of Natural Sciences and Mathematics, University of Maribor, Koroška 160, 2000 Maribor, Slovenia.; Department of Complex Matter, Jožef Stefan Institute, Jamova 39, 1000 Ljubljana, Slovenia.
Sebastián N; Department of Complex Matter, Jožef Stefan Institute, Jamova 39, 1000 Ljubljana, Slovenia.
Škarabot M; Department of Condensed Matter Physics, Jožef Stefan Institute, Jamova 39, 1000 Ljubljana, Slovenia.
Drevenšek-Olenik I; Department of Complex Matter, Jožef Stefan Institute, Jamova 39, 1000 Ljubljana, Slovenia.; Faculty of Mathematics and Physics, University of Ljubljana, Jadranska 19, 1000 Ljubljana, Slovenia.
Spindler L; Department of Complex Matter, Jožef Stefan Institute, Jamova 39, 1000 Ljubljana, Slovenia.; Faculty of Mechanical Engineering, University of Maribor, Smetanova 17, 2000 Maribor, Slovenia.
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Źródło :
International journal of molecular sciences [Int J Mol Sci] 2021 Apr 26; Vol. 22 (9). Date of Electronic Publication: 2021 Apr 26.
Typ publikacji :
Journal Article
MeSH Terms :
G-Quadruplexes*
DNA/*chemistry
DNA Repeat Expansion/*genetics
Amyotrophic Lateral Sclerosis/genetics ; Circular Dichroism ; Cytosine ; DNA/genetics ; DNA Repeat Expansion/physiology ; Frontotemporal Dementia/genetics ; Guanine ; Humans ; Magnetic Resonance Spectroscopy ; Models, Molecular ; Nucleic Acid Conformation ; Polymorphism, Genetic/genetics
Czasopismo naukowe
Tytuł :
CaBagE: A Cas9-based Background Elimination strategy for targeted, long-read DNA sequencing.
Autorzy :
Wallace AD; Department of Human Genetics, School of Medicine, University of Utah, Salt Lake City, Utah, United States of America.; Utah Center for Genetic Discovery, School of Medicine, University of Utah, Salt Lake City, Utah, United States of America.
Sasani TA; Department of Genome Sciences, University of Washington, Seattle, Washington, United States of America.
Swanier J; Department of Human Genetics, School of Medicine, University of Utah, Salt Lake City, Utah, United States of America.
Gates BL; Department of Oncological Sciences, Huntsman Cancer Institute, Salt Lake City, Utah, United States of America.
Greenland J; Department of Oncological Sciences, Huntsman Cancer Institute, Salt Lake City, Utah, United States of America.
Pedersen BS; Department of Human Genetics, School of Medicine, University of Utah, Salt Lake City, Utah, United States of America.; Utah Center for Genetic Discovery, School of Medicine, University of Utah, Salt Lake City, Utah, United States of America.
Varley KE; Department of Oncological Sciences, Huntsman Cancer Institute, Salt Lake City, Utah, United States of America.
Quinlan AR; Department of Human Genetics, School of Medicine, University of Utah, Salt Lake City, Utah, United States of America.; Utah Center for Genetic Discovery, School of Medicine, University of Utah, Salt Lake City, Utah, United States of America.; Department of Biomedical Informatics, School of Medicine, University of Utah, Salt Lake City, Utah, United States of America.
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Źródło :
PloS one [PLoS One] 2021 Apr 08; Vol. 16 (4), pp. e0241253. Date of Electronic Publication: 2021 Apr 08 (Print Publication: 2021).
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
CRISPR-Cas Systems*
DNA Repeat Expansion*
Genome, Human*
High-Throughput Nucleotide Sequencing*
Microsatellite Repeats*
Nanopores*
Amyotrophic Lateral Sclerosis/*genetics
C9orf72 Protein/*genetics
Humans
Czasopismo naukowe
Tytuł :
Novel type of coagulation equation and its application to DNA repeat expansion process.
Autorzy :
Itsko M; WDS Inc., Contractor to Centers for Disease Control and Prevention, 1600 Clifton Road, Atlanta, GA 30033, USA. Electronic address: .
Abu YB; Department of Physics and Project Unit, Sapir Academic College, Sderot, Hof Ashkelon 79165, Israel; Clarendon Laboratory, Department of Physics, University of Oxford, UK. Electronic address: .
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Źródło :
Journal of theoretical biology [J Theor Biol] 2021 Feb 21; Vol. 511, pp. 110555. Date of Electronic Publication: 2020 Dec 18.
Typ publikacji :
Journal Article
MeSH Terms :
DNA*/genetics
DNA Repeat Expansion*
Base Sequence ; Kinetics ; Repetitive Sequences, Nucleic Acid
Czasopismo naukowe
Tytuł :
Enhanced insulin signalling ameliorates C9orf72 hexanucleotide repeat expansion toxicity in Drosophila .
Autorzy :
Atilano ML; Department of Genetics, Evolution and Environment, Institute of Healthy Ageing, London, United Kingdom.; UK Dementia Research Institute at UCL, London, United Kingdom.
Grönke S; Max Planck Institute for Biology of Ageing, Cologne, Germany.
Niccoli T; Department of Genetics, Evolution and Environment, Institute of Healthy Ageing, London, United Kingdom.; UK Dementia Research Institute at UCL, London, United Kingdom.
Kempthorne L; UK Dementia Research Institute at UCL, London, United Kingdom.; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
Hahn O; Max Planck Institute for Biology of Ageing, Cologne, Germany.
Morón-Oset J; Max Planck Institute for Biology of Ageing, Cologne, Germany.
Hendrich O; Max Planck Institute for Biology of Ageing, Cologne, Germany.
Dyson M; Department of Genetics, Evolution and Environment, Institute of Healthy Ageing, London, United Kingdom.; UK Dementia Research Institute at UCL, London, United Kingdom.
Adams ML; Department of Genetics, Evolution and Environment, Institute of Healthy Ageing, London, United Kingdom.; UK Dementia Research Institute at UCL, London, United Kingdom.
Hull A; Department of Genetics, Evolution and Environment, Institute of Healthy Ageing, London, United Kingdom.
Salcher-Konrad MT; UK Dementia Research Institute at UCL, London, United Kingdom.; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
Monaghan A; Alzheimer's Research United Kingdom UCL Drug Discovery Institute, University College London, London, United Kingdom.
Bictash M; Alzheimer's Research United Kingdom UCL Drug Discovery Institute, University College London, London, United Kingdom.
Glaria I; UK Dementia Research Institute at UCL, London, United Kingdom.; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
Isaacs AM; UK Dementia Research Institute at UCL, London, United Kingdom.; Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom.
Partridge L; Department of Genetics, Evolution and Environment, Institute of Healthy Ageing, London, United Kingdom.; Max Planck Institute for Biology of Ageing, Cologne, Germany.
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Źródło :
ELife [Elife] 2021 Mar 19; Vol. 10. Date of Electronic Publication: 2021 Mar 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Repeat Expansion*
Signal Transduction*
Amyotrophic Lateral Sclerosis/*genetics
C9orf72 Protein/*toxicity
Drosophila melanogaster/*physiology
Frontotemporal Dementia/*genetics
Insulin/*physiology
Animals ; C9orf72 Protein/genetics ; Female
Czasopismo naukowe
Tytuł :
Longitudinal changes in network homogeneity in presymptomatic C9orf72 mutation carriers.
Autorzy :
Waugh RE; Motor Neuron Disorders Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Danielian LE; Motor Neuron Disorders Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Shoukry RFS; Motor Neuron Disorders Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.
Floeter MK; Motor Neuron Disorders Unit, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. Electronic address: .
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Źródło :
Neurobiology of aging [Neurobiol Aging] 2021 Mar; Vol. 99, pp. 1-10. Date of Electronic Publication: 2020 Dec 08.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms :
DNA Repeat Expansion*
Heterozygote*
C9orf72 Protein/*genetics
Healthy Aging/*genetics
Healthy Aging/*physiology
Mutation/*genetics
Nerve Net/*pathology
Nerve Net/*physiology
Amyotrophic Lateral Sclerosis/genetics ; Female ; Frontotemporal Dementia/genetics ; Gyrus Cinguli/diagnostic imaging ; Gyrus Cinguli/pathology ; Gyrus Cinguli/physiology ; Healthy Aging/pathology ; Humans ; Magnetic Resonance Imaging ; Male ; Nerve Net/diagnostic imaging
Czasopismo naukowe
Tytuł :
SFPQ regulates the accumulation of RNA foci and dipeptide repeat proteins from the expanded repeat mutation in C9orf72 .
Autorzy :
Malnar M; Department of Biotechnology, Jožef Stefan Institute, 1000 Ljubljana, Slovenia.; Graduate School of Biomedicine, Faculty of Medicine, University of Ljubljana, 1000 Ljubljana, Slovenia.
Rogelj B; Department of Biotechnology, Jožef Stefan Institute, 1000 Ljubljana, Slovenia .; Biomedical Research Institute, 1000 Ljubljana, Slovenia.; Faculty of Chemistry and Chemical Engineering, University of Ljubljana, 1000 Ljubljana, Slovenia.
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Źródło :
Journal of cell science [J Cell Sci] 2021 Feb 19; Vol. 134 (4). Date of Electronic Publication: 2021 Feb 19.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms :
C9orf72 Protein*/genetics
DNA Repeat Expansion*
PTB-Associated Splicing Factor/*metabolism
Amyotrophic Lateral Sclerosis/genetics ; Dipeptides ; Frontotemporal Dementia/genetics ; Humans ; Mutation/genetics ; RNA
Czasopismo naukowe
Tytuł :
Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.
Autorzy :
Dewan R; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
Chia R; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
Ding J; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
Hickman RA; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Stein TD; Department of Pathology and Laboratory Medicine, Boston University School of Medicine, Boston, MA 02118, USA; Boston University Alzheimer's Disease Center, Boston University School of Medicine, Boston, MA 02118, USA; Research and Development Service, Veterans Affairs Boston Healthcare System, Boston, MA 02130, USA; Department of Veterans Affairs Medical Center, Bedford, MA 01730, USA.
Abramzon Y; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London WC1N 1PJ, UK.
Ahmed S; Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.
Sabir MS; Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.
Portley MK; Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA.
Tucci A; Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
Ibáñez K; Clinical Pharmacology, William Harvey Research Institute, School of Medicine and Dentistry, Queen Mary University of London, London EC1M 6BQ, UK.
Shankaracharya FNU; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Keagle P; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Rossi G; Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.
Caroppo P; Division of Neurology V and Neuropathology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.
Tagliavini F; Scientific Directorate, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan 20133, Italy.
Waldo ML; Division of Clinical Sciences Helsingborg, Department of Clinical Sciences Lund, Lund University, Lund 221 84, Sweden.
Johansson PM; Division of Clinical Sciences Helsingborg, Department of Clinical Sciences Lund, Lund University, Lund 221 84, Sweden; Department of Internal Medicine, Sahlgrenska Academy, University of Gottenburg, Gottenburg 413 45, Sweden.
Nilsson CF; Clinical Memory Research Unit, Department of Clinical Sciences Malmö, Lund University, Skåne University Hospital, 205 02 Malmö, Sweden.
Rowe JB; Cambridge University Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust, Cambridge Biomedical Campus, Cambridge CB2 02Z, UK.
Benussi L; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia 25125, Italy.
Binetti G; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia 25125, Italy; MAC Memory Clinic, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia 25125, Italy.
Ghidoni R; Molecular Markers Laboratory, IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli, Brescia 25125, Italy.
Jabbari E; Department of Neurology, Royal Free Hospital, London NW3 2PF, UK; Department of Clinical and Movement Neuroscience, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Viollet C; Department of Anatomy, Physiology and Genetics, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.
Glass JD; Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, USA.
Singleton AB; Molecular Genetics Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
Silani V; Department of Neurology - Stroke Unit and Laboratory of Neuroscience, IRCCS Istituto Auxologico Italiano, Milan 20149, Italy; Department of Pathophysiology and Transplantation, Dino Ferrari Center, Università degli Studi di Milano, Milan 20122, Italy.
Ross OA; Department of Neuroscience & Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL 32224, USA.
Ryten M; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London WC1N 1PJ, UK; Genetics and Genomic Medicine, Great Ormond Street Institute of Child Health, University College London, London WC1E 6BT, UK; NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London, London WC1N 3JH, UK.
Torkamani A; The Scripps Translational Science Institute, The Scripps Research Institute, La Jolla, CA 92037, USA.
Tanaka T; Longitudinal Studies Section, National Institute on Aging, Baltimore, MD 21224, USA.
Ferrucci L; Longitudinal Studies Section, National Institute on Aging, Baltimore, MD 21224, USA.
Resnick SM; Laboratory of Behavioral Neuroscience, National Institute on Aging, Baltimore, MD 21224, USA.
Pickering-Brown S; Division of Neuroscience and Experimental Psychology, Faculty of Biology, Medicine and Health, The University of Manchester, Manchester M13 9PT, UK.
Brady CB; Department of Neurology & Program in Behavioral Neuroscience, Boston University School of Medicine, Boston, MA 02118, USA; Research and Development Service, Veterans Affairs Boston Healthcare System, Boston, MA 02130, USA.
Kowal N; Department of Neurology, Veterans Affairs Boston Healthcare System, Boston, MA 02130, USA; Boston University Alzheimer's Disease Center, Boston University School of Medicine, Boston, MA 02118, USA.
Hardy JA; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London WC1N 1PJ, UK; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK; UK Dementia Research Institute at UCL and Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK; NINR University College London Hospitals Biomedical Research Centre, University College London, London W1T 7DN, UK; Institute for Advanced Study, The Hong Kong University of Science and Technology, Hong Kong SAR, China.
Van Deerlin V; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Vonsattel JP; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Harms MB; Department of Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Morris HR; Department of Neurology, Royal Free Hospital, London NW3 2PF, UK; Department of Clinical and Movement Neuroscience, Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.
Ferrari R; Department of Neurology, Royal Free Hospital, London NW3 2PF, UK.
Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA 01605, USA.
Chiò A; Rita Levi Montalcini Department of Neuroscience, University of Turin, Turin 10126, Italy; Institute of Cognitive Sciences and Technologies, C.N.R., Rome 00185, Italy; Azienda Ospedaliero Universitaria Città della Salute e della Scienza, Turin 10126, Italy.
Gibbs JR; Computational Biology Group, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA.
Dalgard CL; Department of Anatomy, Physiology and Genetics, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA; The American Genome Center, Collaborative Health Initiative Research Program, Uniformed Services University of the Health Sciences, Bethesda, MD 20814, USA.
Scholz SW; Neurodegenerative Diseases Research Unit, Laboratory of Neurogenetics, National Institute of Neurological Disorders and Stroke, Bethesda, MD 20892, USA; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD 21287, USA.
Traynor BJ; Neuromuscular Diseases Research Section, Laboratory of Neurogenetics, National Institute on Aging, Bethesda, MD 20892, USA; Reta Lila Weston Institute, UCL Queen Square Institute of Neurology, University College London, London WC1N 1PJ, UK; Department of Neurology, Johns Hopkins University Medical Center, Baltimore, MD 21287, USA. Electronic address: .
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Corporate Authors :
American Genome Center (TAGC)
FALS Sequencing Consortium
Genomics England Research Consortium
International ALS/FTD Genomics Consortium (iAFGC)
International FTD Genetics Consortium (IFGC)
International LBD Genomics Consortium (iLBDGC)
NYGC ALS Consortium
PROSPECT Consortium; Cambridge University Department of Clinical Neurosciences and Cambridge University Hospitals NHS Trust, Cambridge Biomedical Campus, Cambridge CB2 02Z, UK.
Źródło :
Neuron [Neuron] 2021 Feb 03; Vol. 109 (3), pp. 448-460.e4. Date of Electronic Publication: 2020 Nov 26.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
MeSH Terms :
DNA Repeat Expansion*
Amyotrophic Lateral Sclerosis/*genetics
Frontotemporal Dementia/*genetics
Huntingtin Protein/*genetics
Amyotrophic Lateral Sclerosis/pathology ; Frontotemporal Dementia/pathology ; Humans ; Mutation ; Whole Genome Sequencing
Czasopismo naukowe
Tytuł :
Novel c.1505_1509dupCTGCC pathogenic variation in a male case with Christianson syndrome.
Autorzy :
Yalcintepe S; Department of Medical Genetics, Trakya University Faculty of Medicine, Edirne, Turkey.
Gurkan H
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Źródło :
Clinical dysmorphology [Clin Dysmorphol] 2021 Jan; Vol. 30 (1), pp. 36-38.
Typ publikacji :
Case Reports; Journal Article
MeSH Terms :
Alleles*
DNA Repeat Expansion*
Phenotype*
Ataxia/*diagnosis
Ataxia/*genetics
Epilepsy/*diagnosis
Epilepsy/*genetics
Genetic Diseases, X-Linked/*diagnosis
Genetic Diseases, X-Linked/*genetics
Intellectual Disability/*diagnosis
Intellectual Disability/*genetics
Microcephaly/*diagnosis
Microcephaly/*genetics
Ocular Motility Disorders/*diagnosis
Ocular Motility Disorders/*genetics
Sodium-Hydrogen Exchangers/*genetics
Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male
SCR Disease Name :
Mental Retardation, X-Linked, Syndromic, Christianson Type
Czasopismo naukowe
Tytuł :
Arginine-rich dipeptide-repeat proteins as phase disruptors in C9-ALS/FTD.
Autorzy :
Odeh HM; Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, U.S.A.
Shorter J; Department of Biochemistry and Biophysics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, U.S.A.
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Źródło :
Emerging topics in life sciences [Emerg Top Life Sci] 2020 Dec 11; Vol. 4 (3), pp. 293-305.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.; Review
MeSH Terms :
Amyotrophic Lateral Sclerosis*
DNA Repeat Expansion*
Frontotemporal Dementia*/genetics
Arginine ; C9orf72 Protein/genetics ; Dipeptides/genetics ; Humans ; Proteomics
SCR Disease Name :
Amyotrophic Lateral Sclerosis 2, Juvenile
Czasopismo naukowe
Tytuł :
Tau Accumulation via Reduced Autophagy Mediates GGGGCC Repeat Expansion-Induced Neurodegeneration in Drosophila Model of ALS.
Autorzy :
Wen X; Neurology Department at Huashan Hospital, State Key Laboratory of Medical Neurobiology and Ministry of Education Frontiers Center for Brain Science, School of Life Sciences, Fudan University, Shanghai, 200438, China.
An P; Neurology Department at Huashan Hospital, State Key Laboratory of Medical Neurobiology and Ministry of Education Frontiers Center for Brain Science, School of Life Sciences, Fudan University, Shanghai, 200438, China.
Li H; Neurology Department at Huashan Hospital, State Key Laboratory of Medical Neurobiology and Ministry of Education Frontiers Center for Brain Science, School of Life Sciences, Fudan University, Shanghai, 200438, China.
Zhou Z; Neurology Department at Huashan Hospital, State Key Laboratory of Medical Neurobiology and Ministry of Education Frontiers Center for Brain Science, School of Life Sciences, Fudan University, Shanghai, 200438, China.
Sun Y; Neurology Department at Huashan Hospital, State Key Laboratory of Medical Neurobiology and Ministry of Education Frontiers Center for Brain Science, School of Life Sciences, Fudan University, Shanghai, 200438, China.
Wang J; Neurology Department at Huashan Hospital, State Key Laboratory of Medical Neurobiology and Ministry of Education Frontiers Center for Brain Science, School of Life Sciences, Fudan University, Shanghai, 200438, China. .
Ma L; Department of Anatomy, Histology and Embryology, School of Basic Medical Sciences, Fudan University, Shanghai, 200032, China. .
Lu B; Neurology Department at Huashan Hospital, State Key Laboratory of Medical Neurobiology and Ministry of Education Frontiers Center for Brain Science, School of Life Sciences, Fudan University, Shanghai, 200438, China. .
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Źródło :
Neuroscience bulletin [Neurosci Bull] 2020 Dec; Vol. 36 (12), pp. 1414-1428. Date of Electronic Publication: 2020 Jun 04.
Typ publikacji :
Journal Article
MeSH Terms :
Amyotrophic Lateral Sclerosis*/genetics
Autophagy*
DNA Repeat Expansion*
Frontotemporal Dementia*/genetics
tau Proteins/*metabolism
Adaptor Proteins, Signal Transducing ; Animals ; Apoptosis Regulatory Proteins ; C9orf72 Protein/genetics ; Disease Models, Animal ; Drosophila/metabolism ; Humans
Czasopismo naukowe
Tytuł :
Antisense Transcription across Nucleotide Repeat Expansions in Neurodegenerative and Neuromuscular Diseases: Progress and Mysteries.
Autorzy :
Castro AF; Genetics of Cognitive Dysfunction Laboratory, i3S- Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.; IBMC-Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal.; ICBAS, Universidade do Porto, 4050-313 Porto, Portugal.
Loureiro JR; Genetics of Cognitive Dysfunction Laboratory, i3S- Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.; IBMC-Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal.
Bessa J; IBMC-Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal.; Vertebrate Development and Regeneration Laboratory, i3S- Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.
Silveira I; Genetics of Cognitive Dysfunction Laboratory, i3S- Instituto de Investigação e Inovação em Saúde, Universidade do Porto, 4200-135 Porto, Portugal.; IBMC-Institute for Molecular and Cell Biology, Universidade do Porto, 4200-135 Porto, Portugal.
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Źródło :
Genes [Genes (Basel)] 2020 Nov 27; Vol. 11 (12). Date of Electronic Publication: 2020 Nov 27.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms :
DNA Repeat Expansion*
Neurodegenerative Diseases/*genetics
Neuromuscular Diseases/*genetics
RNA, Antisense/*biosynthesis
Animals ; Disease Models, Animal ; Drosophila melanogaster/genetics ; Forecasting ; Gene Expression Regulation/genetics ; Humans ; Introns/genetics ; Mice ; Mice, Knockout ; Molecular Targeted Therapy ; Mutagenesis, Insertional ; Peptides/genetics ; Poly A/genetics ; RNA Interference ; RNA Splicing/genetics ; RNA, Antisense/genetics ; Spinocerebellar Ataxias/genetics ; Transcription, Genetic ; Trinucleotide Repeat Expansion
Czasopismo naukowe
Tytuł :
Focal neuromyotonia associated with a C9ORF72 expansion mutation.
Autorzy :
Fortunato F; Institute of Neurology, Magna Graecia University, Catanzaro, Italy.
Bonapace G; Department of Medical and Surgical Science, Magna Graecia University, Catanzaro, Italy.
Gullace R; Department of Medical and Surgical Science, Magna Graecia University, Catanzaro, Italy.
Gagliardi M; Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
Nisticò R; Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
Valentino P; Institute of Neurology, Magna Graecia University, Catanzaro, Italy.
Gambardella A; Institute of Neurology, Magna Graecia University, Catanzaro, Italy.; Institute of Molecular Bioimaging and Physiology, National Research Council, Section of Germaneto, Catanzaro, Italy.
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Źródło :
Muscle & nerve [Muscle Nerve] 2020 Oct; Vol. 62 (4), pp. E63-E65. Date of Electronic Publication: 2020 Aug 05.
Typ publikacji :
Case Reports; Letter
MeSH Terms :
DNA Repeat Expansion*
Mutation*
C9orf72 Protein/*genetics
Isaacs Syndrome/*genetics
Humans ; Male ; Middle Aged
Raport
Tytuł :
Systematic microsatellite repeat expansion cloning and validation.
Autorzy :
Rohilla KJ; Department of Biochemistry and Molecular Biology, School of Medicine, Southern Illinois University, Carbondale, USA.
Ovington KN; Department of Biochemistry and Molecular Biology, School of Medicine, Southern Illinois University, Carbondale, USA.
Pater AA; Department of Chemistry and Biochemistry, Southern Illinois University, Carbondale, USA.
Barton M; Department of Biochemistry and Molecular Biology, School of Medicine, Southern Illinois University, Carbondale, USA.
Henke AJ; Department of Chemistry and Biochemistry, Southern Illinois University, Carbondale, USA.
Gagnon KT; Department of Biochemistry and Molecular Biology, School of Medicine, Southern Illinois University, Carbondale, USA. .; Department of Chemistry and Biochemistry, Southern Illinois University, Carbondale, USA. .
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Źródło :
Human genetics [Hum Genet] 2020 Oct; Vol. 139 (10), pp. 1233-1246. Date of Electronic Publication: 2020 Apr 10.
Typ publikacji :
Journal Article
MeSH Terms :
DNA Repeat Expansion*
Microsatellite Repeats*
Amyotrophic Lateral Sclerosis/*genetics
C9orf72 Protein/*genetics
Cloning, Molecular/*methods
Frontotemporal Dementia/*genetics
Amyotrophic Lateral Sclerosis/metabolism ; Amyotrophic Lateral Sclerosis/pathology ; Base Sequence ; C9orf72 Protein/metabolism ; DNA Restriction Enzymes/chemistry ; Escherichia coli/genetics ; Escherichia coli/metabolism ; Frontotemporal Dementia/metabolism ; Frontotemporal Dementia/pathology ; Gene Expression ; Genetic Vectors/chemistry ; Genetic Vectors/metabolism ; Genome, Human ; Genotype ; High-Throughput Nucleotide Sequencing ; Humans ; Polymerase Chain Reaction/methods ; Recombinant Proteins/genetics ; Recombinant Proteins/metabolism
Czasopismo naukowe
Tytuł :
Eye movement alterations in presymptomatic C9orf72 expansion gene carriers.
Autorzy :
Behler A; Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.
Knehr A; Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.
Finsel J; Neuropsychology, Department of Neurology, University of Ulm, Ulm, Germany.
Kunz MS; Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.
Lang C; Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.
Müller K; Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.
Müller HP; Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.
Pinkhardt EH; Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.
Ludolph AC; Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.
Lulé D; Neuropsychology, Department of Neurology, University of Ulm, Ulm, Germany.
Kassubek J; Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany. .
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Źródło :
Journal of neurology [J Neurol] 2021 Sep; Vol. 268 (9), pp. 3390-3399. Date of Electronic Publication: 2021 Mar 11.
Typ publikacji :
Journal Article
MeSH Terms :
Amyotrophic Lateral Sclerosis*/genetics
C9orf72 Protein*/genetics
Eye Movements*
Frontotemporal Dementia*/genetics
DNA Helicases ; DNA Repeat Expansion/genetics ; Heterozygote ; Humans ; Kinesin ; Multifunctional Enzymes ; Mutation/genetics ; RNA Helicases
Czasopismo naukowe
Tytuł :
Nuclear export and translation of circular repeat-containing intronic RNA in C9ORF72-ALS/FTD.
Autorzy :
Wang S; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Latallo MJ; Department of Biophysics and Biophysical Chemistry, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Center for Cell Dynamics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Zhang Z; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Huang B; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Sol Goldman Pancreatic Cancer Research Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Bobrovnikov DG; Department of Biophysics and Biophysical Chemistry, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Dong D; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Livingston NM; Department of Biophysics and Biophysical Chemistry, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Center for Cell Dynamics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Tjoeng W; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Hayes LR; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Rothstein JD; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Ostrow LW; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Wu B; Department of Biophysics and Biophysical Chemistry, Johns Hopkins University School of Medicine, Baltimore, MD, USA. .; Center for Cell Dynamics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. .; Solomon H. Snyder Department of Neuroscience, Johns Hopkins University School of Medicine, Baltimore, MD, USA. .
Sun S; Department of Pathology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. .; Brain Science Institute, Johns Hopkins University School of Medicine, Baltimore, MD, USA. .; Department of Physiology, Johns Hopkins University School of Medicine, Baltimore, MD, USA. .
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Źródło :
Nature communications [Nat Commun] 2021 Aug 13; Vol. 12 (1), pp. 4908. Date of Electronic Publication: 2021 Aug 13.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms :
C9orf72 Protein/*genetics
Cell Nucleus/*metabolism
Introns/*genetics
Protein Biosynthesis/*genetics
RNA/*genetics
Active Transport, Cell Nucleus/genetics ; Amyotrophic Lateral Sclerosis/genetics ; Amyotrophic Lateral Sclerosis/metabolism ; C9orf72 Protein/metabolism ; Cell Line, Tumor ; Cell Nucleus/genetics ; DNA Repeat Expansion/genetics ; Dipeptides/genetics ; Dipeptides/metabolism ; Frontotemporal Dementia/genetics ; Frontotemporal Dementia/metabolism ; Genetic Predisposition to Disease/genetics ; HEK293 Cells ; Humans ; Microscopy, Fluorescence ; Nucleocytoplasmic Transport Proteins/genetics ; Nucleocytoplasmic Transport Proteins/metabolism ; RNA/metabolism ; RNA-Binding Proteins/genetics ; RNA-Binding Proteins/metabolism ; Reverse Transcriptase Polymerase Chain Reaction ; Signal Transduction/genetics
Czasopismo naukowe
Tytuł :
Of mice and men: What a mouse model of microglial C9ORF72 deficiency does-and does not-tell us about human neurodegenerative diseases.
Autorzy :
Chen-Plotkin AS; Department of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19103, USA. Electronic address: .
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Źródło :
Neuron [Neuron] 2021 Jul 21; Vol. 109 (14), pp. 2203-2204.
Typ publikacji :
Journal Article; Research Support, Non-U.S. Gov't; Comment
MeSH Terms :
Amyotrophic Lateral Sclerosis*/genetics
Frontotemporal Dementia*/genetics
Neurodegenerative Diseases*/genetics
C9orf72 Protein/genetics ; DNA Repeat Expansion/genetics ; Humans ; Microglia ; Proteins/genetics
Czasopismo naukowe
Tytuł :
C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation.
Autorzy :
Lall D; Center for Neural Science and Medicine, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
Lorenzini I; Department of Neurobiology, Barrow Neurological Institute, 350 W. Thomas Road, Phoenix, AZ 85013, USA.
Mota TA; Center for Neural Science and Medicine, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
Bell S; Center for Neural Science and Medicine, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
Mahan TE; Department of Neurology, Hope Center for Neurological Disorders, Knight Alzheimer's Disease Research Center, Washington University in St. Louis, St. Louis, MO 63110, USA.
Ulrich JD; Department of Neurology, Hope Center for Neurological Disorders, Knight Alzheimer's Disease Research Center, Washington University in St. Louis, St. Louis, MO 63110, USA.
Davtyan H; Institute for Memory Impairments and Neurological Disorders, Sue & Bill Gross Stem Cell Research Center, 3200 Gross Hall, 845 Health Sciences Road, University of California, Irvine, Irvine, CA 92697, USA.
Rexach JE; Program in Neurogenetics, Department of Neurology, Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Muhammad AKMG; Center for Neural Science and Medicine, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
Shelest O; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
Landeros J; Center for Neural Science and Medicine, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
Vazquez M; Center for Neural Science and Medicine, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
Kim J; Department of Neurobiology, Barrow Neurological Institute, 350 W. Thomas Road, Phoenix, AZ 85013, USA.
Ghaffari L; Department of Neurobiology, Barrow Neurological Institute, 350 W. Thomas Road, Phoenix, AZ 85013, USA.
O'Rourke JG; Center for Neural Science and Medicine, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA.
Geschwind DH; Program in Neurogenetics, Department of Neurology, Department of Human Genetics, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90095, USA.
Blurton-Jones M; Institute for Memory Impairments and Neurological Disorders, Sue & Bill Gross Stem Cell Research Center, 3200 Gross Hall, 845 Health Sciences Road, University of California, Irvine, Irvine, CA 92697, USA.
Holtzman DM; Department of Neurology, Hope Center for Neurological Disorders, Knight Alzheimer's Disease Research Center, Washington University in St. Louis, St. Louis, MO 63110, USA.
Sattler R; Department of Neurobiology, Barrow Neurological Institute, 350 W. Thomas Road, Phoenix, AZ 85013, USA. Electronic address: .
Baloh RH; Center for Neural Science and Medicine, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA; Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA; Department of Neurology, Cedars-Sinai Medical Center, 8700 Beverly Boulevard, Los Angeles, CA 90048, USA. Electronic address: .
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Źródło :
Neuron [Neuron] 2021 Jul 21; Vol. 109 (14), pp. 2275-2291.e8. Date of Electronic Publication: 2021 Jun 15.
Typ publikacji :
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms :
Aging/*metabolism
Amyloid/*metabolism
C9orf72 Protein/*metabolism
Microglia/*metabolism
Synapses/*metabolism
Aging/genetics ; Aging/pathology ; Amyloid/genetics ; Animals ; C9orf72 Protein/genetics ; DNA Repeat Expansion ; Disease Models, Animal ; Lysosomes/metabolism ; Mice ; Mice, Knockout ; Synapses/pathology
Czasopismo naukowe

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