Huntington disease: Advances in the understanding of its mechanisms
Clinical Parkinsonism & Related Disorders, 2020 Huntington disease (HD) is a devastating monogenic autosomal dominant disorder. HD is caused by a CAG expansion in exon 1 of the gene coding for huntingtin, placed in the short arm of chromosome 4.
Emilia M. Gatto +5 more
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The phasor-FLIM fingerprints reveal shifts from OXPHOS to enhanced glycolysis in Huntington Disease. [PDF]
, 2016 Huntington disease (HD) is an autosomal neurodegenerative disorder caused by the expansion of Polyglutamine (polyQ) in exon 1 of the Huntingtin protein. Glutamine repeats below 36 are considered normal while repeats above 40 lead to HD.
Digman, Michelle A +3 more
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Journal of Neuroscience, 2008 Huntington's disease (HD) is a hereditary neurological disease caused by expended CAG repeats in the HD gene, which codes for a protein called Huntingtin (Htt).
Szu-Yi Chou +7 more
semanticscholar +1 more source
Huntingtin-Encoded Polyglutamine Expansions Form Amyloid-like Protein Aggregates In Vitro and In Vivo [PDF]
, 1997 Eberhard Scherzinger +9 more
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Depletion of CBP is directly linked with cellular toxicity caused by mutant huntingtin
Neurobiology of Disease, 2006 Huntington's disease is a neurodegenerative disease caused by an expanded polyglutamine stretch within the huntingtin protein. Transfection of mutant huntingtin causes cell toxicity and depletion of CREB binding protein (CBP) or its recruitment into ...
Haibing Jiang +7 more
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Molecular Brain, 2009 Background Huntington's disease (HD) is an inherited neurogenerative disease caused by an abnormal expansion of glutamine repeats in the huntingtin protein.
Pineda Jose R +5 more
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Identification and localization of huntingtin in brain and human lymphoblastoid cell lines with anti-fusion protein antibodies. [PDF]
, 1995 C A Gutekunst +8 more
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Elucidating the Influence of Lipid Composition on Bilayer Perturbations Induced by the N-terminal Region of the Huntingtin Protein. [PDF]
Biophysica, 2023 Gamage YI, Pan J.
europepmc +1 more source
Huntingtin-associated protein 1 (HAP1) binds to a Trio-like polypeptide, with a rac1 guanine nucleotide exchange factor domain [PDF]
, 1997 Veronica Colomer +8 more
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Neurobiology of Disease, 2002 Huntington's disease, with its dominant loss of striatal neurons, is triggered by an expanded glutamine tract in huntingtin. To investigate a proposed role for increased activation of the apoptotic cascade in mutant huntingtin's trigger mechanism, we ...
Shobu Namura +7 more
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