Huntington's disease: from molecular pathogenesis to clinical treatment
By Christopher A. Ross, Sarah J. Tabrizi. Lancet Neurology, 2011
1,646 citations recorded by the source corpus.
Subfields: Cellular and Molecular Neuroscience, Molecular Biology, Neurology
View Paper: https://www.semanticscholar.org/paper/fc0760263f6cc7c2a373694ac1b46bd52a28c03a
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In Cellular and Molecular Neuroscience
In Molecular Biology
- Brent R. Stockwell
- Tal Hirschhorn
- W. Yang
- X. Breakefield
- S. El Andaloussi
- Mark Yandell
- Karen Eilbeck
- Aaron R. Quinlan
In Neurology
Citations in the corpus
- Sirt1 and the Mitochondria (2016, background): “Given the importance of its acetylation status to PGC-1α activity, the connection between Sirt1 and PGC-1α has been a focus of investigations into metabolic regulation and mitochondrial biogenesis.”
- The mitophagy pathway and its implications in human diseases (2023, background): “The etiology of HD is related to mutations in the gene encoding Huntington (Htt), mainly characterized by an extra stretch of polyglutamine (polyQ) repeats at the N-terminus of the htt protein.(206) Expanded polyQ repeats interact abnormally with glyceraldehyde-3-phosphate dehydrogenase (GAPDH, a de”
- Oxidative Stress in Neurodegenerative Diseases: From Molecular Mechanisms to Clinical Applications (2017, background): “For example, in HD, mutant huntingtin (mHTT) may directly interact with mitochondria, leading to compromised energy supply and increased ROS levels [23].”
- Advances in therapeutic applications of extracellular vesicles (2019, background): “Huntington’s disease (HD) is a dominantly inherited neurodegenerative disorder caused by the aberrant expansion of CAG repeats in the huntingtin gene (HTT) (151) associated with altered miRNA expression (152) and characterized by cognitive impairment, progressive involuntary movements, and psychiatr”
- Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets (2023, background): “432 Pathogenic mutant huntingtin (mHTT) is expressed in various types of neurons in the brain.”
- Ferroptosis: Death by Lipid Peroxidation. (2016, background): “Huntington disease is an inherited neurodegenerative disorder caused by expansion of CAG repeats in the Huntingtin (HTT) gene [60].”
- Settling the score: variant prioritization and Mendelian disease (2017, background): “Individuals with Huntington disease who have a completely penetrant variant are phenotypically normal as children, but develop the disease in their adult life 68 .”
- The Development of the Concept of Ferroptosis (2018, positive): “Ferroptosis was also suggested to contribute to the toxic effect of mutant Huntingtin (HTT) that cause Huntington's disease [198], which was shown to”