نتائج البحث

G-Quadruplex Structures Formed by Human Telomere and C9orf72 GGGGCC Repeats.

• Authors : Yan B; State Key Laboratory of Molecular Neuroscience, Institute for Advanced Study, Division of Life Science, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, China.; Suen MC

Subjects: G-Quadruplexes* ; Telomere*/Telomere*/Telomere*/genetics ; C9orf72 Protein*/C9orf72 Protein*/C9orf72 Protein*/genetics

• Source: International journal of molecular sciences [Int J Mol Sci] 2025 Feb 13; Vol. 26 (4). Date of Electronic Publication: 2025 Feb 13.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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A robust evaluation of TDP-43, poly GP, cellular pathology and behavior in an AAV-C9ORF72 (G 4 C 2 ) 66 mouse model.

• Authors : Thompson EG; Brain Science Institute, Johns Hopkins University School of Medicine, Johns Hopkins University, 855 N. Wolfe St., Rangos 275, Baltimore, MD, 21205, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, 21205, USA.

Subjects: Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/genetics ; Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/pathology ; Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/Amyotrophic Lateral Sclerosis*/metabolism

• Source: Acta neuropathologica communications [Acta Neuropathol Commun] 2024 Dec 26; Vol. 12 (1), pp. 203. Date of Electronic Publication: 2024 Dec 26.Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960

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Targeted long-read sequencing to quantify methylation of the C9orf72 repeat expansion.

• Authors : Udine E; Department of Neuroscience, Mayo Clinic, Jacksonville, FL, USA.; Mayo Clinic Graduate School of Biomedical Sciences, Mayo Clinic, Jacksonville, FL, USA.

Subjects: C9orf72 Protein*/C9orf72 Protein*/C9orf72 Protein*/genetics ; DNA Repeat Expansion*/DNA Repeat Expansion*/DNA Repeat Expansion*/genetics ; DNA Methylation*/DNA Methylation*/DNA Methylation*/genetics

• Source: Molecular neurodegeneration [Mol Neurodegener] 2024 Dec 21; Vol. 19 (1), pp. 99. Date of Electronic Publication: 2024 Dec 21.Publisher: BioMed Central Country of Publication: England NLM ID: 101266600 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1326

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Long somatic DNA-repeat expansion drives neurodegeneration in Huntington disease

• Authors : Robert E. Handsaker; Seva Kashin; Nora M. Reed

• Source: Cell.

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Oxidative Stress in DNA Repeat Expansion Disorders: A Focus on NRF2 Signaling Involvement.

• Authors : La Rosa P; Unit of Muscular and Neurodegenerative Diseases, Bambino Gesù Children's Hospital, IRCCS, 00146 Rome, Italy.; Petrillo S

Subjects: DNA Repeat Expansion* ; Oxidative Stress*; NF-E2-Related Factor 2/NF-E2-Related Factor 2/NF-E2-Related Factor 2/*metabolism

• Source: Biomolecules [Biomolecules] 2020 May 01; Vol. 10 (5). Date of Electronic Publication: 2020 May 01.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X

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Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease

• Authors : Handsaker, Robert E.; Kashin, Seva; Reed, Nora M.

• Source: Cell ; volume 188, issue 3, page 623-639.e19 ; ISSN 0092-8674

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Crystal structure of a tetrameric RNA G-quadruplex formed by hexanucleotide repeat expansions of C9orf72 in ALS/FTD.

• Authors : Geng Y; Clinical Research Institute of the First Affiliated Hospital of Xiamen University, Fujian Key Laboratory of Brain Tumors Diagnosis and Precision Treatment, Xiamen Key Laboratory of Brain Center, the First Affiliated Hospital of Xiamen University, School of Medicine, Xiamen University, Xiamen, Fujian, China.; Institute for Advanced Study and State Key Laboratory of Molecular Neuroscience, Division of Life Science, The Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong SAR, China.

Subjects: C9orf72 Protein*/C9orf72 Protein*/C9orf72 Protein*/genetics ; C9orf72 Protein*/C9orf72 Protein*/C9orf72 Protein*/chemistry ; G-Quadruplexes* Frontotemporal Dementia With Motor Neuron Disease

• Source: Nucleic acids research [Nucleic Acids Res] 2024 Jul 22; Vol. 52 (13), pp. 7961-7970.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN:

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Somatic and intergenerational G4C2 hexanucleotide repeat instability in a human C9orf72 knock-in mouse model.

• Authors : Kojak N; Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA.; Kuno J

Subjects: C9orf72 Protein*/C9orf72 Protein*/C9orf72 Protein*/genetics ; DNA Repeat Expansion*/DNA Repeat Expansion*/DNA Repeat Expansion*/genetics ; Genomic Instability*/Genomic Instability*/Genomic Instability*/genetics

• Source: Nucleic acids research [Nucleic Acids Res] 2024 Jun 10; Vol. 52 (10), pp. 5732-5755.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN:

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Amyotrophic lateral sclerosis caused by hexanucleotide repeat expansions in C9orf72: from genetics to therapeutics

• Authors : Mizielinska, Sarah; Hautbergue, Guillaume M; Gendron, Tania F

Subjects: Biomedical and Clinical Sciences; Neurosciences; Brain Disorders

• Source: The Lancet Neurology. 24(3)

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Pathogenic CANVAS (AAGGG)n repeats stall DNA replication due to the formation of alternative DNA structures.

• Authors : Hisey JA; Department of Biology, Tufts University, Medford, MA 02155, USA.; Radchenko EA

Subjects: DNA Repeat Expansion*/DNA Repeat Expansion*/DNA Repeat Expansion*/genetics ; DNA Replication*/DNA Replication*/DNA Replication*/genetics ; Cerebellar Ataxia*/Cerebellar Ataxia*/Cerebellar Ataxia*/genetics

• Source: Nucleic acids research [Nucleic Acids Res] 2024 May 08; Vol. 52 (8), pp. 4361-4374.Publisher: Oxford University Press Country of Publication: England NLM ID: 0411011 Publication Model: Print Cited Medium: Internet ISSN:

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