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


Tytuł:
Advances in Nucleotide Repeat Expansion Diseases: Transcription Gets in Phase.
Autorzy:
Figueiredo AS; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, 4200-135 Porto, Portugal.; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, Portugal.; Instituto de Ciências Biomédicas Abel Salazar (ICBAS), Universidade do Porto, 4050-313 Porto, Portugal.
Loureiro JR; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, 4200-135 Porto, Portugal.; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, Portugal.
Macedo-Ribeiro S; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, 4200-135 Porto, Portugal.; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, Portugal.
Silveira I; Instituto de Investigação e Inovação em Saúde (i3S), Universidade do Porto, 4200-135 Porto, Portugal.; Instituto de Biologia Molecular e Celular (IBMC), Universidade do Porto, 4200-135 Porto, Portugal.
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Źródło:
Cells [Cells] 2023 Mar 07; Vol. 12 (6). Date of Electronic Publication: 2023 Mar 07.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Repeat Expansion*/genetics
Neuromuscular Diseases*/genetics
Humans ; Mutation ; Proteins/genetics ; RNA/genetics ; Nucleotides
Czasopismo naukowe
Tytuł:
Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity.
Autorzy:
Bennett CL; Departments of Pathology, Laboratory Medicine, Neurology, and Biological Chemistry, UCI Center for Neurotherapeutics, University of California Irvine School of Medicine, Irvine, CA, 92697, USA.; Department of Neurology, Duke University School of Medicine, Durham, NC, 27710, USA.
Dastidar S; Department of Neurology, Duke University School of Medicine, Durham, NC, 27710, USA.; Center for Molecular Neurosciences, Kasturba Medical College, Manipal, 576104, India.
Arnold FJ; Departments of Pathology, Laboratory Medicine, Neurology, and Biological Chemistry, UCI Center for Neurotherapeutics, University of California Irvine School of Medicine, Irvine, CA, 92697, USA.
McKinstry SU; Department of Neurology, Duke University School of Medicine, Durham, NC, 27710, USA.
Stockford C; Departments of Pathology, Laboratory Medicine, Neurology, and Biological Chemistry, UCI Center for Neurotherapeutics, University of California Irvine School of Medicine, Irvine, CA, 92697, USA.
Freibaum BD; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.
Sopher BL; Department of Laboratory Medicine and Pathology, University of Washington Medical Center, Seattle, WA, 98195, USA.
Wu M; Department of Pharmacology, University of California, San Diego, La Jolla, CA, 92093, USA.
Seidner G; Department of Pharmacology, University of California, San Diego, La Jolla, CA, 92093, USA.
Joiner W; Department of Laboratory Medicine and Pathology, University of Washington Medical Center, Seattle, WA, 98195, USA.
Taylor JP; Department of Cell and Molecular Biology, St. Jude Children's Research Hospital, Memphis, TN, 38105, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, 20815, USA.
West RJH; Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, S10 2HQ, UK. .; Neuroscience Institute, University of Sheffield, Sheffield, S10 2TN, UK. .
La Spada AR; Departments of Pathology, Laboratory Medicine, Neurology, and Biological Chemistry, UCI Center for Neurotherapeutics, University of California Irvine School of Medicine, Irvine, CA, 92697, USA. .; Department of Neurology, Duke University School of Medicine, Durham, NC, 27710, USA. .; Department of Neurobiology and Behavior, University of California Irvine School of Biosciences, Irvine, CA, 92697, USA. .; UCI Center for Neurotherapeutics, University of California Irvine, Irvine, CA, 92697, USA. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2023 Oct 17; Vol. 11 (1), pp. 164. Date of Electronic Publication: 2023 Oct 17.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/metabolism
Frontotemporal Dementia*/genetics
Humans ; Animals ; Dipeptides/genetics ; C9orf72 Protein/genetics ; C9orf72 Protein/metabolism ; Arginine/genetics ; Arginine/metabolism ; HEK293 Cells ; Motor Neurons/metabolism ; Drosophila/metabolism ; RNA/metabolism ; DNA Repeat Expansion/genetics ; DNA Helicases/genetics ; RNA Helicases/genetics ; Multifunctional Enzymes/genetics
SCR Disease Name:
Amyotrophic lateral sclerosis 1
Czasopismo naukowe
Tytuł:
Advances in the Structure of GGGGCC Repeat RNA Sequence and Its Interaction with Small Molecules and Protein Partners.
Autorzy:
Liu X; State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai 200237, China.
Zhao X; State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai 200237, China.
He J; State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai 200237, China.
Wang S; State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai 200237, China.
Shen X; State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai 200237, China.
Liu Q; State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai 200237, China.
Wang S; State Key Laboratory of Bioreactor Engineering, East China University of Science and Technology, Shanghai 200237, China.; Beijing NMR Center, Peking University, Beijing 100087, China.
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Źródło:
Molecules (Basel, Switzerland) [Molecules] 2023 Aug 01; Vol. 28 (15). Date of Electronic Publication: 2023 Aug 01.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Amyotrophic Lateral Sclerosis*/metabolism
Frontotemporal Dementia*/genetics
Humans ; Base Sequence ; DNA Repeat Expansion ; RNA/genetics ; RNA/chemistry ; RNA-Binding Proteins/genetics ; RNA-Binding Proteins/metabolism
Czasopismo naukowe
Tytuł:
The effects of molecular crowding and CpG hypermethylation on DNA G-quadruplexes formed by the C9orf72 nucleotide repeat expansion.
Autorzy:
Ozcan KA; Department of Neuroscience, Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience, Thomas Jefferson University, Philadelphia, PA, USA.
Ghaffari LT; Department of Neuroscience, Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience, Thomas Jefferson University, Philadelphia, PA, USA.
Haeusler AR; Department of Neuroscience, Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience, Thomas Jefferson University, Philadelphia, PA, USA. .; Department of Neuroscience, Jefferson Weinberg ALS Center, Vickie and Jack Farber Institute for Neuroscience, Thomas Jefferson University, 900 Walnut Street, JHN suite 410, Philadelphia, PA, 19107, USA. .
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Źródło:
Scientific reports [Sci Rep] 2021 Dec 01; Vol. 11 (1), pp. 23213. Date of Electronic Publication: 2021 Dec 01.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Methylation*
DNA Repeat Expansion*
G-Quadruplexes*
C9orf72 Protein/*genetics
Amyotrophic Lateral Sclerosis/genetics ; Frontotemporal Dementia/genetics ; Humans ; Molecular Dynamics Simulation
Czasopismo naukowe
Tytuł:
C9ORF72 Repeat Expansion Affects the Proteome of Primary Skin Fibroblasts in ALS.
Autorzy:
Lualdi M; Biochemistry and Functional Proteomics Laboratory, Department of Science and High Technology, Center of Bioinformatics and Center of Neuroscience, University of Insubria, I-21052 Busto Arsizio, Italy.
Shafique A; Biochemistry and Functional Proteomics Laboratory, Department of Science and High Technology, Center of Bioinformatics and Center of Neuroscience, University of Insubria, I-21052 Busto Arsizio, Italy.
Pedrini E; Biochemistry and Functional Proteomics Laboratory, Department of Science and High Technology, Center of Bioinformatics and Center of Neuroscience, University of Insubria, I-21052 Busto Arsizio, Italy.
Pieroni L; Proteomics and Metabolomic Laboratory, Experimental Neuroscience Department, S. Lucia Foundation IRCCS, I-00168 Rome, Italy.
Greco V; Department of Basic Biotechnological Sciences, Intensivological and Perioperative Clinics, Università Cattolica del Sacro Cuore, I-00168 Rome, Italy.; Molecular and Genomic Diagnostics Unit, Fondazione Policlinico Universitario 'A. Gemelli' IRCCS, I-00168 Rome, Italy.
Castagnola M; Proteomics and Metabolomic Laboratory, Experimental Neuroscience Department, S. Lucia Foundation IRCCS, I-00168 Rome, Italy.
Cucina G; Biochemistry and Functional Proteomics Laboratory, Department of Science and High Technology, Center of Bioinformatics and Center of Neuroscience, University of Insubria, I-21052 Busto Arsizio, Italy.
Corrado L; Department of Health Sciences, University of Eastern Piedmont 'A. Avogadro', I-28100 Novara, Italy.
Di Pierro A; Department of Health Sciences, University of Eastern Piedmont 'A. Avogadro', I-28100 Novara, Italy.
De Marchi F; Department of Translational Medicine, University of Eastern Piedmont 'A. Avogadro', I-28100 Novara, Italy.; Department of Neurology and ALS Centre, 'Maggiore della Carità' Hospital, I-28100 Novara, Italy.
Camillo L; Department of Health Sciences, University of Eastern Piedmont 'A. Avogadro', I-28100 Novara, Italy.
Colombrita C; Department of Neurology-Stroke Unit and Laboratory of Neuroscience, Istituto Auxologico Italiano IRCCS, I-20149 Milan, Italy.
D'Anca M; Neurodegenerative Disease Unit, Fondazione Ca' Granda IRCCS, Policlinico Hospital, I-20122 Milan, Italy.
Alberio T; Biochemistry and Functional Proteomics Laboratory, Department of Science and High Technology, Center of Bioinformatics and Center of Neuroscience, University of Insubria, I-21052 Busto Arsizio, Italy.
D'Alfonso S; Department of Health Sciences, University of Eastern Piedmont 'A. Avogadro', I-28100 Novara, Italy.
Fasano M; Biochemistry and Functional Proteomics Laboratory, Department of Science and High Technology, Center of Bioinformatics and Center of Neuroscience, University of Insubria, I-21052 Busto Arsizio, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Sep 27; Vol. 22 (19). Date of Electronic Publication: 2021 Sep 27.
Typ publikacji:
Clinical Trial; Journal Article
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Amyotrophic Lateral Sclerosis*/metabolism
Amyotrophic Lateral Sclerosis*/pathology
C9orf72 Protein*/genetics
C9orf72 Protein*/metabolism
DNA Repeat Expansion*
Fibroblasts*/metabolism
Fibroblasts*/pathology
Proteome*/genetics
Proteome*/metabolism
Skin*/metabolism
Skin*/pathology
Signal Transduction/*genetics
Adult ; Aged ; Female ; Humans ; Male ; Middle Aged
Czasopismo naukowe
Tytuł:
Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.
Autorzy:
Rajan-Babu IS; Department of Medical Genetics, University of British Columbia and Children's & Women's Hospital, Vancouver, BC, V6H3N1, Canada. .; Department of Medical and Molecular Genetics, King's College London, Strand, London, WC2R 2LS, UK. .
Peng JJ; Department of Medical Genetics, University of British Columbia and Children's & Women's Hospital, Vancouver, BC, V6H3N1, Canada.
Chiu R; Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, V5Z4S6, Canada.
Li C; Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, V5Z4S6, Canada.; Bioinformatics Graduate Program, University of British Columbia, Vancouver, BC, V6T1Z4, Canada.
Mohajeri A; Department of Medical Genetics, University of British Columbia and Children's & Women's Hospital, Vancouver, BC, V6H3N1, Canada.
Dolzhenko E; Illumina Inc., San Diego, CA, 92121, USA.
Eberle MA; Illumina Inc., San Diego, CA, 92121, USA.
Birol I; Department of Medical Genetics, University of British Columbia and Children's & Women's Hospital, Vancouver, BC, V6H3N1, Canada.; Canada's Michael Smith Genome Sciences Centre, BC Cancer Agency, Vancouver, BC, V5Z4S6, Canada.
Friedman JM; Department of Medical Genetics, University of British Columbia and Children's & Women's Hospital, Vancouver, BC, V6H3N1, Canada.
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Corporate Authors:
IMAGINE Study
CAUSES Study
Źródło:
Genome medicine [Genome Med] 2021 Aug 09; Vol. 13 (1), pp. 126. Date of Electronic Publication: 2021 Aug 09.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
DNA Repeat Expansion*
Genome-Wide Association Study*/methods
High-Throughput Nucleotide Sequencing*
Microsatellite Repeats*
Whole Genome Sequencing*
Algorithms ; Alleles ; Clinical Decision-Making ; Computational Biology/methods ; Databases, Genetic ; Decision Trees ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/genetics ; Genetic Loci ; Humans ; Machine Learning ; Molecular Diagnostic Techniques ; Mutation ; Reproducibility of Results
Czasopismo naukowe
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:
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:
Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement.
Autorzy:
La Rosa P; Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Petrillo S; Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Bertini ES; Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
Piemonte F; Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.
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Źródło:
Biomolecules [Biomolecules] 2020 May 01; Vol. 10 (5). Date of Electronic Publication: 2020 May 01.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Review
MeSH Terms:
DNA Repeat Expansion*
Oxidative Stress*
NF-E2-Related Factor 2/*metabolism
Neurodegenerative Diseases/*metabolism
Animals ; Humans ; NF-E2-Related Factor 2/genetics ; Neurodegenerative Diseases/genetics ; Signal Transduction
Czasopismo naukowe
Tytuł:
The carboxyl termini of RAN translated GGGGCC nucleotide repeat expansions modulate toxicity in models of ALS/FTD.
Autorzy:
He F; Department of Neurology, University of Michigan, 4005 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA. .; Department of Biological and Health Sciences, Texas A&M University, 700 University Blvd, Kingsville, TX, 78363, USA. .
Flores BN; Department of Neurology, University of Michigan, 4005 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.
Krans A; Department of Neurology, University of Michigan, 4005 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.
Frazer M; Department of Neurology, University of Michigan, 4005 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.; Neuroscience Graduate Program, University of California at Los Angeles, Los Angeles, CA, USA.
Natla S; Department of Neurology, University of Michigan, 4005 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.
Niraula S; Department of Biological and Health Sciences, Texas A&M University, 700 University Blvd, Kingsville, TX, 78363, USA.
Adefioye O; Department of Biological and Health Sciences, Texas A&M University, 700 University Blvd, Kingsville, TX, 78363, USA.
Barmada SJ; Department of Neurology, University of Michigan, 4005 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA.
Todd PK; Department of Neurology, University of Michigan, 4005 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA. .; Veterans Affairs Medical Center, 4005 BSRB, 109 Zina Pitcher Place, Ann Arbor, MI, 48109-2200, USA. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2020 Aug 04; Vol. 8 (1), pp. 122. Date of Electronic Publication: 2020 Aug 04.
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:
DNA Repeat Expansion*
Amyotrophic Lateral Sclerosis/*genetics
C9orf72 Protein/*genetics
Frontotemporal Dementia/*genetics
Protein Biosynthesis/*genetics
Reading Frames/*genetics
Animals ; Dipeptides ; Disease Models, Animal ; Drosophila ; Rats ; Rats, Long-Evans
SCR Disease Name:
Frontotemporal Dementia With Motor Neuron Disease
Czasopismo naukowe
Tytuł:
Muscle and skin fibroblast TDP-43 expression, dynamic mutation analysis of NOTCH2NLC and C9orf72 in patients with FOSMN.
Autorzy:
Liu Z; Department of Neurology, Chongqing Key Laboratory of Neurology, the First Affiliated Hospital of Chongqing Medical University, 1st Youyi Road, Yuzhong District, Chongqing, 400016, China.
Guo X; Department of Neurology, Chongqing Key Laboratory of Neurology, the First Affiliated Hospital of Chongqing Medical University, 1st Youyi Road, Yuzhong District, Chongqing, 400016, China.; Department of Neurology, The Second Affiliated Hospital of Zunyi Medical University, Intersection of Xinlong Avenue and Xinpu Avenue, Honghuagang District, Zunyi, Guizhou, China.
Guo H; Department of Neurology, Chongqing Key Laboratory of Neurology, the First Affiliated Hospital of Chongqing Medical University, 1st Youyi Road, Yuzhong District, Chongqing, 400016, China.
Luo J; Department of Neurology, Chongqing Key Laboratory of Neurology, the First Affiliated Hospital of Chongqing Medical University, 1st Youyi Road, Yuzhong District, Chongqing, 400016, China. .
Xiao F; Department of Neurology, Chongqing Key Laboratory of Neurology, the First Affiliated Hospital of Chongqing Medical University, 1st Youyi Road, Yuzhong District, Chongqing, 400016, China. .
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Źródło:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2022 Nov; Vol. 43 (11), pp. 6505-6510. Date of Electronic Publication: 2022 Aug 16.
Typ publikacji:
Journal Article
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Amyotrophic Lateral Sclerosis*/pathology
Neurodegenerative Diseases*/genetics
Humans ; C9orf72 Protein/genetics ; DNA Repeat Expansion/genetics ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Fibroblasts/metabolism ; Muscles/metabolism ; Muscles/pathology ; Mutation/genetics
Czasopismo naukowe
Tytuł:
Synaptic proteomics reveal distinct molecular signatures of cognitive change and C9ORF72 repeat expansion in the human ALS cortex.
Autorzy:
Laszlo ZI; Division of Cellular and Systems Medicine, School of Medicine, University of Dundee, Dundee, Scotland, UK.
Hindley N; Division of Cellular and Systems Medicine, School of Medicine, University of Dundee, Dundee, Scotland, UK.
Sanchez Avila A; Division of Cellular and Systems Medicine, School of Medicine, University of Dundee, Dundee, Scotland, UK.; The Euan Macdonald Centre, Edinburgh, UK.
Kline RA; The Euan Macdonald Centre, Edinburgh, UK.; The Roslin Institute, Royal (Dick) School of Veterinary Studies, College of Medicine and Veterinary Medicine, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK.
Eaton SL; The Roslin Institute, Royal (Dick) School of Veterinary Studies, College of Medicine and Veterinary Medicine, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK.
Lamont DJ; FingerPrints Proteomics Facility, Discovery Centre, School of Life Sciences, University of Dundee, Dundee, Scotland, UK.
Smith C; The Euan Macdonald Centre, Edinburgh, UK.; Academic Neuropathology, Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, Scotland, UK.
Spires-Jones TL; The Euan Macdonald Centre, Edinburgh, UK.; Centre for Discovery Brain Sciences and UK Dementia Research Institute at the University of Edinburgh, Edinburgh, UK.
Wishart TM; The Euan Macdonald Centre, Edinburgh, UK.; The Roslin Institute, Royal (Dick) School of Veterinary Studies, College of Medicine and Veterinary Medicine, University of Edinburgh, Edinburgh, EH25 9RG, Scotland, UK.
Henstridge CM; Division of Cellular and Systems Medicine, School of Medicine, University of Dundee, Dundee, Scotland, UK. .; The Euan Macdonald Centre, Edinburgh, UK. .
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Źródło:
Acta neuropathologica communications [Acta Neuropathol Commun] 2022 Oct 29; Vol. 10 (1), pp. 156. Date of Electronic Publication: 2022 Oct 29.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/pathology
Frontotemporal Dementia*/genetics
Humans ; C9orf72 Protein/genetics ; C9orf72 Protein/metabolism ; DNA Repeat Expansion/genetics ; Proteomics ; Proteome/genetics ; Cognition
Czasopismo naukowe
Tytuł:
Serum total TDP-43 levels are decreased in frontotemporal dementia patients with C9orf72 repeat expansion or concomitant motoneuron disease phenotype.
Autorzy:
Katisko K; Institute of Clinical Medicine - Neurology, University of Eastern Finland, P.O. Box 1627 (Yliopistonranta 1C), FI-70211, Kuopio, Finland.
Huber N; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland.
Kokkola T; Institute of Clinical Medicine - Neurology, University of Eastern Finland, P.O. Box 1627 (Yliopistonranta 1C), FI-70211, Kuopio, Finland.
Hartikainen P; Neuro center, Neurology, Kuopio University Hospital, Kuopio, Finland.
Krüger J; Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.; MRC, Oulu University Hospital, Oulu, Finland.; Neurology, Neurocenter, Oulu University Hospital, Oulu, Finland.
Heikkinen AL; Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.; MRC, Oulu University Hospital, Oulu, Finland.; Neurology, Neurocenter, Oulu University Hospital, Oulu, Finland.; Finnish Institute of Occupational Health, Work Ability and Working Careers, Helsinki, Finland.
Paananen V; Research Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.; MRC, Oulu University Hospital, Oulu, Finland.; Neurology, Neurocenter, Oulu University Hospital, Oulu, Finland.
Leinonen V; Neuro Center, Neurosurgery, Kuopio University Hospital, 70029, Kuopio, Finland.; Institute of Clinical Medicine - Neurosurgery, University of Eastern Finland, 70211, Kuopio, Finland.
Korhonen VE; Institute of Clinical Medicine - Neurology, University of Eastern Finland, P.O. Box 1627 (Yliopistonranta 1C), FI-70211, Kuopio, Finland.; Neuro Center, Neurosurgery, Kuopio University Hospital, 70029, Kuopio, Finland.; Institute of Clinical Medicine - Neurosurgery, University of Eastern Finland, 70211, Kuopio, Finland.
Helisalmi S; Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland, Kuopio, Finland.
Herukka SK; Institute of Clinical Medicine - Neurology, University of Eastern Finland, P.O. Box 1627 (Yliopistonranta 1C), FI-70211, Kuopio, Finland.; Neuro center, Neurology, Kuopio University Hospital, Kuopio, Finland.
Cantoni V; Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Gadola Y; Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.
Archetti S; ASST Spedali Civili, Brescia, Italy.
Remes AM; Unit of Clinical Neuroscience, Neurology, University of Oulu, Oulu, Finland.; Medical Research Center, Oulu University Hospital, Oulu, Finland.
Haapasalo A; A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland.
Borroni B; Centre for Neurodegenerative Disorders, Department of Clinical and Experimental Sciences, University of Brescia, Brescia, Italy.; ASST Spedali Civili, Brescia, Italy.
Solje E; Institute of Clinical Medicine - Neurology, University of Eastern Finland, P.O. Box 1627 (Yliopistonranta 1C), FI-70211, Kuopio, Finland. .; Neuro center, Neurology, Kuopio University Hospital, Kuopio, Finland. .
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Źródło:
Alzheimer's research & therapy [Alzheimers Res Ther] 2022 Oct 11; Vol. 14 (1), pp. 151. Date of Electronic Publication: 2022 Oct 11.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
C9orf72 Protein*/genetics
Frontotemporal Dementia*/pathology
Motor Neuron Disease*/genetics
Motor Neuron Disease*/metabolism
Motor Neuron Disease*/pathology
DNA Repeat Expansion ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Humans ; Motor Neurons/metabolism ; Motor Neurons/pathology ; Phenotype
Czasopismo naukowe
Tytuł:
Two FTD-ALS genes converge on the endosomal pathway to induce TDP-43 pathology and degeneration.
Autorzy:
Shao W; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Todd TW; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Wu Y; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Jones CY; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Tong J; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Jansen-West K; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Daughrity LM; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Park J; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Koike Y; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Kurti A; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Yue M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Castanedes-Casey M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Del Rosso G; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA.
Dunmore JA; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Zanetti Alepuz D; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.
Oskarsson B; Department of Neurology, Mayo Clinic, Jacksonville, FL 32224, USA.
Dickson DW; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA.
Cook CN; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA.
Prudencio M; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA.
Gendron TF; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA.
Fryer JD; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Department of Neuroscience, Mayo Clinic, Scottsdale, AZ 85259, USA.
Zhang YJ; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA.
Petrucelli L; Department of Neuroscience, Mayo Clinic, Jacksonville, FL 32224, USA.; Neurobiology of Disease Graduate Program, Mayo Clinic Graduate School of Biomedical Sciences, Jacksonville, FL 32224, USA.
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Źródło:
Science (New York, N.Y.) [Science] 2022 Oct 07; Vol. 378 (6615), pp. 94-99. Date of Electronic Publication: 2022 Oct 06.
Typ publikacji:
Journal Article
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Amyotrophic Lateral Sclerosis*/metabolism
C9orf72 Protein*/genetics
C9orf72 Protein*/metabolism
DNA-Binding Proteins*/genetics
DNA-Binding Proteins*/metabolism
Frontotemporal Dementia*/genetics
Frontotemporal Dementia*/metabolism
Protein Serine-Threonine Kinases*/genetics
Protein Serine-Threonine Kinases*/metabolism
Animals ; DNA Repeat Expansion ; Endosomes/metabolism ; Mice ; Mutation
SCR Disease Name:
Frontotemporal Dementia With Motor Neuron Disease
Czasopismo naukowe
Tytuł:
Novel probes for label-free detection of neurodegenerative GGGGCC repeats associated with amyotrophic lateral sclerosis.
Autorzy:
Taki M; Department of Chemistry & Biochemistry, Southern Illinois University, 1245 Lincoln Dr, Carbondale, IL, 62901, USA.
Rohilla KJ; Biochemistry and Molecular Biology, Southern Illinois University School of Medicine, Carbondale, IL, 62901, USA.
Barton M; Biochemistry and Molecular Biology, Southern Illinois University School of Medicine, Carbondale, IL, 62901, USA.
Funneman M; Department of Chemistry & Biochemistry, Southern Illinois University, 1245 Lincoln Dr, Carbondale, IL, 62901, USA.
Benzabeh N; Department of Chemistry & Biochemistry, Southern Illinois University, 1245 Lincoln Dr, Carbondale, IL, 62901, USA.
Naphade S; The Buck Institute for Research on Aging, 8001 Redwood Blvd, Novato, CA, 94945, USA.
Ellerby LM; The Buck Institute for Research on Aging, 8001 Redwood Blvd, Novato, CA, 94945, USA.
Gagnon KT; Department of Chemistry & Biochemistry, Southern Illinois University, 1245 Lincoln Dr, Carbondale, IL, 62901, USA.; Biochemistry and Molecular Biology, Southern Illinois University School of Medicine, Carbondale, IL, 62901, USA.
Shamsi MH; Department of Chemistry & Biochemistry, Southern Illinois University, 1245 Lincoln Dr, Carbondale, IL, 62901, USA. .
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Źródło:
Analytical and bioanalytical chemistry [Anal Bioanal Chem] 2019 Oct; Vol. 411 (26), pp. 6995-7003. Date of Electronic Publication: 2019 Aug 21.
Typ publikacji:
Journal Article
MeSH Terms:
DNA Repeat Expansion*
Amyotrophic Lateral Sclerosis/*genetics
Oligonucleotide Probes/*genetics
Base Sequence ; Biosensing Techniques/methods ; Dielectric Spectroscopy/methods ; Humans ; Huntington Disease/genetics ; RNA/genetics
Czasopismo naukowe
Tytuł:
NHLRC1 dodecamer expansion in a Welsh Corgi (Pembroke) with Lafora disease.
Autorzy:
Kehl A; Laboklin, Bad Kissingen, Germany.
Cizinauskas S; Small Animal Hospital Aisti, Vantaa, Finnland.
Langbein-Detsch I; Laboklin, Bad Kissingen, Germany.
Mueller E; Laboklin, Bad Kissingen, Germany.
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Źródło:
Animal genetics [Anim Genet] 2019 Aug; Vol. 50 (4), pp. 413-414. Date of Electronic Publication: 2019 Jun 06.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
DNA Repeat Expansion*
Carrier Proteins/*genetics
Dog Diseases/*genetics
Lafora Disease/*veterinary
Animals ; Dogs ; Female ; Finland ; Lafora Disease/genetics ; Ubiquitin-Protein Ligases/genetics ; Whole Genome Sequencing/veterinary
Czasopismo naukowe
Tytuł:
Defective axonal transport of endo-lysosomes and dense core vesicles in a Drosophila model of C9-ALS/FTD.
Autorzy:
Sung H; Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.; Solomon H. Snyder Department of Neuroscience, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Lloyd TE; Department of Neurology, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.; Solomon H. Snyder Department of Neuroscience, School of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
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Źródło:
Traffic (Copenhagen, Denmark) [Traffic] 2022 Sep; Vol. 23 (9), pp. 430-441. Date of Electronic Publication: 2022 Aug 17.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Frontotemporal Dementia*/metabolism
Animals ; Axonal Transport ; C9orf72 Protein/genetics ; C9orf72 Protein/metabolism ; DNA Repeat Expansion ; Dense Core Vesicles ; Drosophila/metabolism ; Lysosomes/metabolism
Czasopismo naukowe
Tytuł:
A pathologically confirmed case of combined amyotrophic lateral sclerosis with C9orf72 mutation and multiple system atrophy.
Autorzy:
King A; Department Of Clinical Neuropathology, King's College Hospital, Denmark Hill, London, UK.; London Neurodegenerative Diseases Brain Bank and Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Lee YK; Department of Neurology, Eastbourne District General Hospital, King's Drive, East Sussex, UK.
Jones S; London Neurodegenerative Diseases Brain Bank and Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
Troakes C; London Neurodegenerative Diseases Brain Bank and Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King's College London, London, UK.
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Źródło:
Neuropathology : official journal of the Japanese Society of Neuropathology [Neuropathology] 2022 Aug; Vol. 42 (4), pp. 302-308. Date of Electronic Publication: 2022 Jun 23.
Typ publikacji:
Case Reports
MeSH Terms:
Amyotrophic Lateral Sclerosis*/genetics
Amyotrophic Lateral Sclerosis*/pathology
Multiple System Atrophy*/genetics
Parkinsonian Disorders*/genetics
C9orf72 Protein/genetics ; DNA Repeat Expansion ; Humans ; Male ; Mutation
Raport

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