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Tytuł:
High-Resolution NMR Structures of Intrastrand Hairpins Formed by CTG Trinucleotide Repeats.
Autorzy:
Wan L; Institute of Molecular Medicine (IMM), Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.; Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, Zhejiang 310022, China.
He A; Institute of Molecular Medicine (IMM), Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.; Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, Zhejiang 310022, China.
Li J; ReviR Therapeutics, Shenzhen Bay Hi-Tech Ecological Park, Nanshan District, Shenzhen, Guangdong 518067, China.
Guo P; Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, Zhejiang 310022, China.
Han D; Institute of Molecular Medicine (IMM), Renji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai 200127, China.; Hangzhou Institute of Medicine (HIM), Chinese Academy of Sciences, Hangzhou, Zhejiang 310022, China.
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Źródło:
ACS chemical neuroscience [ACS Chem Neurosci] 2024 Feb 21; Vol. 15 (4), pp. 868-876. Date of Electronic Publication: 2024 Feb 06.
Typ publikacji:
Journal Article
MeSH Terms:
Trinucleotide Repeats*/genetics
DNA Replication*
Humans ; Nucleic Acid Conformation ; Trinucleotide Repeat Expansion/genetics ; Magnetic Resonance Spectroscopy
Czasopismo naukowe
Tytuł:
Number of CAG repeats and mortality in middle aged and older men.
Autorzy:
Heald A; Department of Endocrinology and Diabetes, Salford Royal Hospital, Salford, UK.; The School of Medicine and Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.
Cook MJ; Centre for Health Informatics, Division of Informatics, Imaging and Data Science, Manchester Academic Health Science Centre, The University of Manchester, Manchester, UK.; National Institute for Health and Care Research Applied Research Collaboration Greater Manchester, Manchester, UK.
Antonio L; Department of Endocrinology, University Hospitals Leuven, Leuven, Belgium.; Clinical and Experimental Endocrinology, Department of Chronic Diseases and Metabolism, KU Leuven, Leuven, Belgium.
Tournoy J; Department of Public Health and Primary Care, Gerontology and Geriatrics Unit, KU Leuven-University of Leuven, Leuven, Belgium.; Department of Geriatric Medicine, University Hospitals Leuven, Leuven, Belgium.
Ghaffari P; Department of Endocrinology and Diabetes, Salford Royal Hospital, Salford, UK.
Mannan F; The School of Medicine and Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.
Fachim H; Department of Endocrinology and Diabetes, Salford Royal Hospital, Salford, UK.; The School of Medicine and Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.
Vanderschueren D; Department of Endocrinology, University Hospitals Leuven, Leuven, Belgium.; Clinical and Experimental Endocrinology, Department of Chronic Diseases and Metabolism, KU Leuven, Leuven, Belgium.
Laing I; Department of Biochemistry, Royal Preston Hospital, Preston, UK.
Hackett G; Aston University Medical School, Birmingham, UK.
Casanueva FF; Department of Medicine, Santiagode Compostela University, Complejo Hospitalario Universitariode Santiago (CHUS), CIBER de Fisiopatología Obesidady Nutricion (CB06/03), Instituto Salud Carlos III, Santiago de Compostela, Spain.
Huhtaniemi IT; Department of Metabolism, Institute of Reproductive and Developmental, Digestion and Reproduction, Imperial College London, London, UK.
Maggi M; 'Mario Serio' Department of Experimental and Clinical Biomedical Sciences, Endocrinology Unit, University of Florence, Florence, Italy.
Rastrelli G; 'Mario Serio' Department of Experimental and Clinical Biomedical Sciences, Endocrinology Unit, University of Florence, Florence, Italy.
Slowikowska-Hilczer J; Department of Andrology and Reproductive Endocrinology, Medical University of Łódź, Łódź, Poland.
Wu F; The School of Medicine and Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.; Department of Endocrinology, Manchester Royal Infirmary, The University of Manchester, Manchester, UK.
O'Neill TW; Centre for Epidemiology Versus Arthritis, The University of Manchester, Manchester, UK.; Salford Royal NHS Foundation Trust, Manchester Academic Health Science Centre, Salford, UK.
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Źródło:
Clinical endocrinology [Clin Endocrinol (Oxf)] 2023 Dec; Vol. 99 (6), pp. 559-565. Date of Electronic Publication: 2023 Sep 18.
Typ publikacji:
Journal Article
MeSH Terms:
Receptors, Androgen*/genetics
Trinucleotide Repeats*/genetics
Humans ; Middle Aged ; Male ; Aged ; Aging ; Testosterone
Czasopismo naukowe
Tytuł:
Structure and Dynamics of DNA and RNA Double Helices Formed by d(CTG), d(GTC), r(CUG), and r(GUC) Trinucleotide Repeats and Associated DNA-RNA Hybrids.
Autorzy:
Fakharzadeh A; Department of Physics, North Carolina State University, Raleigh, North Carolina 27695-8202, USA.
Qu J; Department of Physics, North Carolina State University, Raleigh, North Carolina 27695-8202, USA.
Pan F; Department of Statistics, Florida State University, Tallahassee, Florida 32306, USA.
Sagui C; Department of Physics, North Carolina State University, Raleigh, North Carolina 27695-8202, USA.
Roland C; Department of Physics, North Carolina State University, Raleigh, North Carolina 27695-8202, USA.
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Źródło:
The journal of physical chemistry. B [J Phys Chem B] 2023 Sep 21; Vol. 127 (37), pp. 7907-7924. Date of Electronic Publication: 2023 Sep 08.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
Trinucleotide Repeats*
DNA*
Adult ; Humans ; Biophysics ; Hydrogen Bonding ; RNA
Czasopismo naukowe
Tytuł:
The relationship between the number of CAG repeats and clinical manifestations: a survey of Chinese DRPLA family.
Autorzy:
Sun S; Department of Neurology, Qilu Hospital, Shandong University, Jinan, China.
Zhao W; Department of Neurology, Qilu Hospital, Shandong University, Jinan, China.
Liu X; Department of Neurology, Qilu Hospital, Shandong University, Jinan, China. .
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Źródło:
Acta neurologica Belgica [Acta Neurol Belg] 2023 Aug; Vol. 123 (4), pp. 1505-1510. Date of Electronic Publication: 2023 May 27.
Typ publikacji:
Journal Article
MeSH Terms:
East Asian People*/genetics
Trinucleotide Repeats*/genetics
Myoclonic Epilepsies, Progressive*/genetics
Female ; Humans ; Phenotype ; Male
Czasopismo naukowe
Tytuł:
Frustration Between Preferred States of Complementary Trinucleotide Repeat DNA Hairpins Anticorrelates with Expansion Disease Propensity.
Autorzy:
Xu P; Department of Physics, North Carolina State University, Raleigh, NC 27695, USA. Electronic address: https:.
Zhang J; Department of Physics, North Carolina State University, Raleigh, NC 27695, USA.
Pan F; Department of Physics, North Carolina State University, Raleigh, NC 27695, USA.
Mahn C; Department of Physics, North Carolina State University, Raleigh, NC 27695, USA.
Roland C; Department of Physics, North Carolina State University, Raleigh, NC 27695, USA.
Sagui C; Department of Physics, North Carolina State University, Raleigh, NC 27695, USA. Electronic address: .
Weninger K; Department of Physics, North Carolina State University, Raleigh, NC 27695, USA. Electronic address: .
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Źródło:
Journal of molecular biology [J Mol Biol] 2023 May 15; Vol. 435 (10), pp. 168086. Date of Electronic Publication: 2023 Apr 05.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural
MeSH Terms:
DNA*/genetics
DNA*/chemistry
Trinucleotide Repeats*
Neurodegenerative Diseases*/genetics
Humans ; DNA, Complementary ; Nucleic Acid Conformation ; Trinucleotide Repeat Expansion/genetics
Czasopismo naukowe
Tytuł:
BREACHing new grounds in fragile X syndrome: Trinucleotide expansion linked to genome-wide heterochromatin domains and genome misfolding.
Autorzy:
Schulz EG; Max Planck Institute for Molecular Genetics, Berlin, Germany.
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Źródło:
Molecular cell [Mol Cell] 2024 Feb 01; Vol. 84 (3), pp. 413-414.
Typ publikacji:
Journal Article
MeSH Terms:
Fragile X Syndrome*/genetics
Humans ; Trinucleotide Repeat Expansion/genetics ; Heterochromatin/genetics ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism ; Promoter Regions, Genetic ; Trinucleotide Repeats/genetics
Czasopismo naukowe
Tytuł:
A GCC repeat in RAB26 undergoes natural selection in human and harbors divergent genotypes in late-onset Alzheimer's disease.
Autorzy:
Alizadeh S; Iranian Research Center on Aging, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Khamse S; Iranian Research Center on Aging, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Tajeddin N; Iranian Research Center on Aging, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Khorram Khorshid HR; Personalized Medicine and Genometabolomics Research Center, Hope Generation Foundation, Tehran, Iran.
Delbari A; Iranian Research Center on Aging, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Electronic address: .
Ohadi M; Iranian Research Center on Aging, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran. Electronic address: .
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Źródło:
Gene [Gene] 2024 Jan 30; Vol. 893, pp. 147968. Date of Electronic Publication: 2023 Nov 04.
Typ publikacji:
Journal Article
MeSH Terms:
Alzheimer Disease*/genetics
Humans ; Alleles ; Genotype ; Iran ; Selection, Genetic ; Trinucleotide Repeats
Czasopismo naukowe
Tytuł:
Structural Dynamics Role of AGG Interruptions in Inhibition CGG Repeat Expansion Associated with Fragile X Syndrome.
Autorzy:
Shen YI; Department of Chemistry, National Taiwan Normal University, Taipei 116, Taiwan.
Cheng KC; Department of Chemistry, National Taiwan Normal University, Taipei 116, Taiwan.
Wei YJ; Department of Chemistry, National Taiwan Normal University, Taipei 116, Taiwan.
Lee IR; Department of Chemistry, National Taiwan Normal University, Taipei 116, Taiwan.; Genomics Research Center, Academia Sinica, Taipei 115, Taiwan.
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Źródło:
ACS chemical neuroscience [ACS Chem Neurosci] 2024 Jan 17; Vol. 15 (2), pp. 230-235. Date of Electronic Publication: 2023 Dec 22.
Typ publikacji:
Journal Article
MeSH Terms:
Fragile X Syndrome*/genetics
Humans ; Trinucleotide Repeat Expansion/genetics ; Fragile X Mental Retardation Protein/genetics ; Fragile X Mental Retardation Protein/metabolism ; Trinucleotide Repeats/genetics ; Alleles
Czasopismo naukowe
Tytuł:
All-or-None Selectivity in Probing Polarity-Determined Trinucleotide Repeat Foldings with a Parity Resolution by a Beyond-Size-Matching Ligand.
Autorzy:
Chang Y; Key Laboratory of the Ministry of Education for Advanced Catalysis Materials, College of Chemistry and Life Sciences, Zhejiang Normal University, Jinhua, Zhejiang 321004, China.
Zeng X; Key Laboratory of the Ministry of Education for Advanced Catalysis Materials, College of Chemistry and Life Sciences, Zhejiang Normal University, Jinhua, Zhejiang 321004, China.
Peng S; Key Laboratory of the Ministry of Education for Advanced Catalysis Materials, College of Chemistry and Life Sciences, Zhejiang Normal University, Jinhua, Zhejiang 321004, China.
Lai R; Key Laboratory of the Ministry of Education for Advanced Catalysis Materials, College of Chemistry and Life Sciences, Zhejiang Normal University, Jinhua, Zhejiang 321004, China.
Yang M; Key Laboratory of the Ministry of Education for Advanced Catalysis Materials, College of Chemistry and Life Sciences, Zhejiang Normal University, Jinhua, Zhejiang 321004, China.
Wang D; Key Laboratory of the Ministry of Education for Advanced Catalysis Materials, College of Chemistry and Life Sciences, Zhejiang Normal University, Jinhua, Zhejiang 321004, China.
Zhou X; Key Laboratory of the Ministry of Education for Advanced Catalysis Materials, College of Chemistry and Life Sciences, Zhejiang Normal University, Jinhua, Zhejiang 321004, China.
Shao Y; Key Laboratory of the Ministry of Education for Advanced Catalysis Materials, College of Chemistry and Life Sciences, Zhejiang Normal University, Jinhua, Zhejiang 321004, China.
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Źródło:
Analytical chemistry [Anal Chem] 2023 Feb 21; Vol. 95 (7), pp. 3746-3753. Date of Electronic Publication: 2023 Feb 06.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Neurodegenerative Diseases*
Trinucleotide Repeats*
DNA/chemistry ; Ligands ; Nucleic Acid Conformation ; Trinucleotide Repeat Expansion
Czasopismo naukowe
Tytuł:
Clinical and neuroimaging review of triplet repeat diseases.
Autorzy:
Kurokawa R; Department of Radiology, Graduate School of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan. .; Division of Neuroradiology, Department of Radiology, University of Michigan, 1500 E Medical Center Dr, Ann Arbor, MI, 48109, USA. .
Kurokawa M; Department of Radiology, Graduate School of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.; Division of Neuroradiology, Department of Radiology, University of Michigan, 1500 E Medical Center Dr, Ann Arbor, MI, 48109, USA.
Mitsutake A; Department of Neurology, International University of Health and Welfare, Mita Hospital, 1-4-3 Mita, Minato-ku, Tokyo, 108-8329, Japan.
Nakaya M; Department of Radiology, Graduate School of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
Baba A; Division of Neuroradiology, Department of Radiology, University of Michigan, 1500 E Medical Center Dr, Ann Arbor, MI, 48109, USA.
Nakata Y; Department of Neuroradiology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu, Tokyo, 183-0042, Japan.
Moritani T; Division of Neuroradiology, Department of Radiology, University of Michigan, 1500 E Medical Center Dr, Ann Arbor, MI, 48109, USA.
Abe O; Department of Radiology, Graduate School of Medicine, The University of Tokyo, 7-3-1, Hongo, Bunkyo-ku, Tokyo, 113-8655, Japan.
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Źródło:
Japanese journal of radiology [Jpn J Radiol] 2023 Feb; Vol. 41 (2), pp. 115-130. Date of Electronic Publication: 2022 Sep 28.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Trinucleotide Repeats*
RNA*/genetics
Humans ; Amino Acids/genetics ; Neuroimaging
Czasopismo naukowe
Tytuł:
A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy.
Autorzy:
Yang, Xinzhuang (AUTHOR)
Zhang, Dingding (AUTHOR)
Shen, Si (AUTHOR)
Li, Pidong (AUTHOR)
Li, Mengjie (AUTHOR)
Niu, Jingwen (AUTHOR)
Ma, Dongrui (AUTHOR)
Xu, Dan (AUTHOR)
Li, Shuangjie (AUTHOR)
Guo, Xueyu (AUTHOR)
Wang, Zhen (AUTHOR)
Zhao, Yanhuan (AUTHOR)
Ren, Haitao (AUTHOR)
Ling, Chao (AUTHOR)
Wang, Yang (AUTHOR)
Fan, Yu (AUTHOR)
Shen, Jianxiong (AUTHOR)
Zhu, Yicheng (AUTHOR)
Wang, Depeng (AUTHOR)
Cui, Liying (AUTHOR)
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Źródło:
BMC Medical Genomics. 10/20/2023, Vol. 16 Issue 1, p1-9. 9p.
Czasopismo naukowe
Tytuł:
The number of androgen receptor CAG repeats and mortality in men.
Autorzy:
Heald A; Department of Endocrinology and Diabetes, Salford Royal Hospital, Salford, UK.; The School of Medicine and Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.
Cook M; Centre for Epidemiology Versus Arthritis, The University of Manchester, Manchester, UK.
Antonio L; Department of Endocrinology, University Hospitals Leuven, Leuven, Belgium.; Clinical and Experimental Endocrinology, Department of Chronic Diseases and Metabolism, KU Leuven, Leuven, Belgium.
Vanderschueren D; Department of Endocrinology, University Hospitals Leuven, Leuven, Belgium.; Clinical and Experimental Endocrinology, Department of Chronic Diseases and Metabolism, KU Leuven, Leuven, Belgium.
Javed A; The School of Medicine and Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.
Fachim H; The School of Medicine and Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK.; Centre for Epidemiology Versus Arthritis, The University of Manchester, Manchester, UK.
Hackett G; Aston University Medical School, Birmingham, UK.
Wu F; Centre for Epidemiology Versus Arthritis, The University of Manchester, Manchester, UK.; Department of Endocrinology, Manchester Royal Infirmary, The University of Manchester, Manchester, UK.
O'Neill T; Centre for Epidemiology Versus Arthritis, The University of Manchester, Manchester, UK.; NIHR Manchester Biomedical Research Centre, Manchester University NHS Foundation Trust, Manchester Academic Health Science Centre, UK.
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Źródło:
The aging male : the official journal of the International Society for the Study of the Aging Male [Aging Male] 2022 Dec; Vol. 25 (1), pp. 167-172.
Typ publikacji:
Journal Article
MeSH Terms:
Receptors, Androgen*/genetics
Trinucleotide Repeats*/genetics
Aging ; Female ; Humans ; Male ; Testosterone
Czasopismo naukowe
Tytuł:
Prominent lower motor neuron involvement in patients with intermediate-length CAG repeats in ATXN3 gene.
Autorzy:
Dong S; Department of Neurology, Huashan Hospital and Institute of Neurology, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China.; National Center for Neurological Disorders, Shanghai, China.
Zhu D; Department of Neurology, Huashan Hospital and Institute of Neurology, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China.; National Center for Neurological Disorders, Shanghai, China.
Yang W; Department of Neurology, Huashan Hospital and Institute of Neurology, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China.; National Center for Neurological Disorders, Shanghai, China.
Li J; Department of Neurology, Huashan Hospital and Institute of Neurology, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China.; National Center for Neurological Disorders, Shanghai, China.
Chen X; Department of Neurology, Huashan Hospital and Institute of Neurology, Fudan University, 12 Wulumuqi Zhong Road, Shanghai, 200040, China. .; National Center for Neurological Disorders, Shanghai, China. .; Human Phenome Institute, Fudan University, Shanghai, 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 Dec; Vol. 43 (12), pp. 6993-6995. Date of Electronic Publication: 2022 Aug 23.
Typ publikacji:
Letter; Research Support, Non-U.S. Gov't
MeSH Terms:
Trinucleotide Repeat Expansion*/genetics
Trinucleotide Repeats*
Humans ; Motor Neurons ; Ataxin-3/genetics ; Repressor Proteins/genetics ; Repressor Proteins/metabolism
Raport
Tytuł:
A cyclic pyrrole-imidazole polyamide reduces pathogenic RNA in CAG/CTG triplet repeat neurological disease models.
Autorzy:
Ikenoshita S; Department of Genomic Neurology, Institute of Molecular Embryology and Genetics (IMEG).; Department of Neurology, Graduate School of Medical Sciences.
Matsuo K; Department of Genomic Neurology, Institute of Molecular Embryology and Genetics (IMEG).
Yabuki Y; Department of Genomic Neurology, Institute of Molecular Embryology and Genetics (IMEG).; Graduate School of Pharmaceutical Sciences, and.
Kawakubo K; Department of Genomic Neurology, Institute of Molecular Embryology and Genetics (IMEG).; Graduate School of Pharmaceutical Sciences, and.
Asamitsu S; Department of Genomic Neurology, Institute of Molecular Embryology and Genetics (IMEG).
Hori K; Department of Genomic Neurology, Institute of Molecular Embryology and Genetics (IMEG).
Usuki S; Liaison Laboratory Research Promotion Center, IMEG, Kumamoto University, Kumamoto, Japan.
Hirose Y; Department of Chemistry, Graduate School of Science, Kyoto University, Kyoto, Japan.
Bando T; Department of Chemistry, Graduate School of Science, Kyoto University, Kyoto, Japan.
Araki K; Institute of Resource Development and Analysis and.; Center for Metabolic Regulation of Healthy Aging, Kumamoto University, Kumamoto, Japan.
Ueda M; Department of Neurology, Graduate School of Medical Sciences.
Sugiyama H; Department of Chemistry, Graduate School of Science, Kyoto University, Kyoto, Japan.; Institute for Integrated Cell-Material Science (iCeMS), Kyoto University, Kyoto, Japan.
Shioda N; Department of Genomic Neurology, Institute of Molecular Embryology and Genetics (IMEG).; Graduate School of Pharmaceutical Sciences, and.
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Źródło:
The Journal of clinical investigation [J Clin Invest] 2023 Nov 15; Vol. 133 (22). Date of Electronic Publication: 2023 Nov 15.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Myotonic Dystrophy*/genetics
Huntington Disease*/drug therapy
Huntington Disease*/genetics
Humans ; Animals ; Mice ; RNA/genetics ; Trinucleotide Repeat Expansion/genetics ; Nylons/pharmacology ; Trinucleotide Repeats ; DNA ; Imidazoles/pharmacology
Czasopismo naukowe
Tytuł:
HD and SCA1: Tales from two 30-year journeys since gene discovery.
Autorzy:
Thompson LM; Department of Psychiatry and Human Behavior, Department of Neurobiology and Behavior, Department of Biological Chemistry, Institute of Memory Impairments and Neurological Disorders, Sue and Bill Gross Stem Cell Center, University of California Irvine, Irvine, CA 92697, USA.
Orr HT; Department of Laboratory Medicine and Pathology, Institute for Translational Neuroscience, University of Minnesota, Minneapolis and Saint Paul, MN 55455, USA. Electronic address: .
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Źródło:
Neuron [Neuron] 2023 Nov 15; Vol. 111 (22), pp. 3517-3530. Date of Electronic Publication: 2023 Oct 19.
Typ publikacji:
Journal Article; Review; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Huntington Disease*/genetics
Spinocerebellar Ataxias*/genetics
Nervous System Diseases*/genetics
Humans ; Ataxin-1/genetics ; Proteins/genetics ; Trinucleotide Repeats ; Genetic Association Studies ; Trinucleotide Repeat Expansion/genetics
Czasopismo naukowe
Tytuł:
Evaluating the clinical utility of a long-read sequencing-based approach in genetic testing of fragile-X syndrome.
Autorzy:
Hou F; Department of Prenatal Diagnosis, Jinan Maternal and Child Health Hospital, Jinan 250001, Shandong Province, China.
Mao A; Berry Genomics Corporation, Beijing 102200, China.
Shan S; Department of Prenatal Diagnosis, Jinan Maternal and Child Health Hospital, Jinan 250001, Shandong Province, China.
Li Y; Department of Prenatal Diagnosis, Jinan Maternal and Child Health Hospital, Jinan 250001, Shandong Province, China.
Meng W; Berry Genomics Corporation, Beijing 102200, China.
Zhan J; Berry Genomics Corporation, Beijing 102200, China.
Nie W; Department of Prenatal Diagnosis, Jinan Maternal and Child Health Hospital, Jinan 250001, Shandong Province, China.
Jin H; Department of Prenatal Diagnosis, Jinan Maternal and Child Health Hospital, Jinan 250001, Shandong Province, China. Electronic address: .
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Źródło:
Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2023 Nov 01; Vol. 551, pp. 117614. Date of Electronic Publication: 2023 Oct 30.
Typ publikacji:
Journal Article
MeSH Terms:
Fragile X Syndrome*/diagnosis
Fragile X Syndrome*/genetics
Humans ; Male ; Female ; Trinucleotide Repeat Expansion/genetics ; Fragile X Mental Retardation Protein/genetics ; Genetic Testing ; Mutation ; Alleles ; Trinucleotide Repeats
Czasopismo naukowe
Tytuł:
A Structural Potential of Rare Trinucleotide Repeat Tracts in RNA.
Autorzy:
Magner D; Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14, 61-704 Poznan, Poland.
Nowak R; Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14, 61-704 Poznan, Poland.
Lenartowicz Onyekaa E; Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14, 61-704 Poznan, Poland.
Pasternak A; Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14, 61-704 Poznan, Poland.
Kierzek R; Institute of Bioorganic Chemistry, Polish Academy of Sciences, Noskowskiego 12/14, 61-704 Poznan, Poland.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 May 23; Vol. 23 (10). Date of Electronic Publication: 2022 May 23.
Typ publikacji:
Journal Article
MeSH Terms:
RNA*/chemistry
RNA*/genetics
Trinucleotide Repeats*
Base Pairing ; Humans ; Thermodynamics
Czasopismo naukowe
Tytuł:
CGG repeats trigger translational frameshifts that generate aggregation-prone chimeric proteins.
Autorzy:
Wright SE; Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI 48109, USA.
Rodriguez CM; Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.; Neuroscience Graduate Program, University of Michigan, Ann Arbor, MI 48109, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA 84305, USA.
Monroe J; Department of Chemistry, University of Michigan, Ann Arbor, MI 48109, USA.
Xing J; Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.
Krans A; Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.; VA Ann Arbor Healthcare System, Ann Arbor, MI 48105, USA.
Flores BN; Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.; Cellular and Molecular Biology Graduate Program, University of Michigan, Ann Arbor, MI 48109, USA.
Barsur V; Department of Pathology, University of Michigan, Ann Arbor, MI 48109, USA.
Ivanova MI; Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.; Biophysics Program, University of Michigan, Ann Arbor, MI 48109, USA.
Koutmou KS; Department of Chemistry, University of Michigan, Ann Arbor, MI 48109, USA.
Barmada SJ; Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.
Todd PK; Department of Neurology, University of Michigan, Ann Arbor, MI 48109, USA.; VA Ann Arbor Healthcare System, Ann Arbor, MI 48105, USA.
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Źródło:
Nucleic acids research [Nucleic Acids Res] 2022 Aug 26; Vol. 50 (15), pp. 8674-8689.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S.
MeSH Terms:
Fragile X Mental Retardation Protein*/genetics
Fragile X Mental Retardation Protein*/metabolism
Neurodegenerative Diseases*/genetics
Protein Aggregation, Pathological*
Trinucleotide Repeats*
Arginine/genetics ; Ataxia ; Fragile X Syndrome ; Glycine/genetics ; Humans ; Peptides/genetics ; Peptides/metabolism ; Recombinant Fusion Proteins/metabolism
SCR Disease Name:
Fragile X Tremor Ataxia Syndrome
Czasopismo naukowe
Tytuł:
Molecular insights into the interaction of CAG trinucleotide RNA repeats with nucleolin and its implication in polyglutamine diseases.
Autorzy:
An Y; School of Life Sciences, The Chinese University of Hong Kong, Shatin N.T., Hong Kong SAR, China.; Center for Soybean Research of the State Key Laboratory of Agrobiotechnology, The Chinese University of Hong Kong, Shatin N.T., Hong Kong SAR, China.
Chen ZS; School of Life Sciences, The Chinese University of Hong Kong, Shatin N.T., Hong Kong SAR, China.
Chan HYE; School of Life Sciences, The Chinese University of Hong Kong, Shatin N.T., Hong Kong SAR, China.; Gerald Choa Neuroscience Centre, The Chinese University of Hong Kong, Shatin N.T., Hong Kong SAR, China.
Ngo JCK; School of Life Sciences, The Chinese University of Hong Kong, Shatin N.T., Hong Kong SAR, China.; Center for Soybean Research of the State Key Laboratory of Agrobiotechnology, The Chinese University of Hong Kong, Shatin N.T., Hong Kong SAR, China.; Center for Novel Biomaterials, The Chinese University of Hong Kong, Shatin N.T., Hong Kong SAR, China.
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Źródło:
Nucleic acids research [Nucleic Acids Res] 2022 Jul 22; Vol. 50 (13), pp. 7655-7668.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
RNA*/genetics
Trinucleotide Repeats*
Phosphoproteins/*genetics
RNA-Binding Proteins/*genetics
Neurodegenerative Diseases/genetics ; Neurodegenerative Diseases/pathology ; Oligonucleotides/metabolism ; Peptides ; Nucleolin
Czasopismo naukowe

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