Showing 1 - 20 results of 418 for search '"Huntingtin"', query time: 0.09s Refine Results
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    The flavonoid luteolin reduces mutant huntingtin aggregation and cytotoxicity in huntingtin-mutated neuroblastoma cells by Azza Ramadan, Abuelnor Mohammed, Asim Ahmed Elnour, Adel Sadeq, Nadia Al Mazrouei, Maisoun Alkaabi, Khalid Awad Al-Kubaisi, Semira Abdi Beshir, Vineetha Menon, Abdulla AlAmoodi, Kishore Ganana Sam, Ali Awadallah Ali Mohamed Saeed, Sami Fatehi Abdalla, Samah Mohammed Hussein

    Published 2023-12-01
    “…Background: Huntington's disease is an inherited progressive neurodegenerative disorder caused by an expansion of the polyglutamine tract leading to malformation and aggregation of the mutant huntingtin protein in the cell cytoplasm and nucleus of affected brain regions. …”
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    Huntingtin exon 1 deletion does not alter the subcellular distribution of huntingtin and gene transcription in mice by Xianxian Zhao, Yize Sun, Zhifu Wang, Laiqiang Chen, Shihua Li, Xiao-Jiang Li

    Published 2022-11-01
    “…Huntington disease (HD) is caused by the expansion of CAG triplet repeats in exon 1 of the huntingtin (HTT) gene, which also encodes the first 17 amino acids (N-17) that can modulate the toxicity of the expanded polyQ repeat. …”
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    A pathogenic proteolysis–resistant huntingtin isoform induced by an antisense oligonucleotide maintains huntingtin function by Hyeongju Kim, Sophie Lenoir, Angela Helfricht, Taeyang Jung, Zhana K. Karneva, Yejin Lee, Wouter Beumer, Geert B. van der Horst, Herma Anthonijsz, Levi C.M. Buil, Frits van der Ham, Gerard J. Platenburg, Pasi Purhonen, Hans Hebert, Sandrine Humbert, Frédéric Saudou, Pontus Klein, Ji-Joon Song

    Published 2022-09-01
    “…Its key pathological mechanism involves the proteolysis of polyglutamine-expanded (polyQ-expanded) mutant huntingtin (mHTT), which generates N-terminal fragments containing polyQ, a key contributor to HD pathogenesis. …”
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    Quantifying mutant huntingtin protein in human cerebrospinal fluid to support the development of huntingtin-lowering therapies by Stephanie Vauleon, Katharina Schutz, Benoit Massonnet, Nanda Gruben, Marianne Manchester, Alessandra Buehler, Eginhard Schick, Lauren Boak, David J. Hawellek

    Published 2023-04-01
    “…Abstract Huntington’s disease (HD) is caused by a cytosine adenine guanine-repeat expansion in the huntingtin gene. This results in the production of toxic mutant huntingtin protein (mHTT), which has an elongated polyglutamine (polyQ) stretch near the protein’s N-terminal end. …”
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    Unconventional Secretion and Intercellular Transfer of Mutant Huntingtin by Bor Luen Tang

    Published 2018-06-01
    Subjects: “…Huntingtin (HTT)…”
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    Random Lasing Detection of Mutant Huntingtin Expression in Cells by Sergio de Armas-Rillo, Felipe Fumagallo-Reading, Diego Luis-Ravelo, Beatriz Abdul-Jalbar, Tomás González-Hernández, Fernando Lahoz

    Published 2021-05-01
    “…Huntington’s disease (HD) is an autosomal dominant, incurable neurodegenerative disease caused by mutation in the huntingtin gene (<i>HTT</i>). <i>HTT</i> mutation leads to protein misfolding and aggregation, which affect cells’ functions and structural features. …”
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    Characterization of axonal transport defects in Drosophila Huntingtin mutants by Weiss, Kurt Richard, Littleton, J. Troy

    Published 2016
    “…Polyglutamine (polyQ) expansion within Huntingtin (Htt) causes the fatal neurodegenerative disorder Huntington’s Disease (HD). …”
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    Behavioral features in child and adolescent huntingtin gene‐mutation carriers by Erin E. Reasoner, Ellen van derPlas, Hend M. Al‐Kaylani, Douglas R. Langbehn, Amy L. Conrad, Jordan L. Schultz, Eric A. Epping, Vincent A. Magnotta, Peggy C. Nopoulos

    Published 2022-07-01
    “…Abstract Introduction We compared neuropsychiatric symptoms between child and adolescent huntingtin gene‐mutation carriers and noncarriers. Given previous evidence of atypical striatal development in carriers, we also assessed the relationship between neuropsychiatric traits and striatal development. …”
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    Cyclodextrin-Based Nanoparticles for Delivery of Antisense Oligonucleotides Targeting Huntingtin by Monique C. P. Mendonça, Yao Sun, Michael F. Cronin, Andrew J. Lindsay, John F. Cryan, Caitriona M. O’Driscoll

    Published 2023-02-01
    “…Huntington’s disease (HD) is a progressive inherited neurodegenerative disease caused by a CAG repeat expansion in the huntingtin gene, which is translated into the pathologic mutant huntingtin (mHTT) protein. …”
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