Articles with "hap40" as a keyword



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HAP40 is a conserved central regulator of Huntingtin and a potential modulator of Huntington’s disease pathogenesis

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Published in 2022 at "PLoS Genetics"

DOI: 10.1371/journal.pgen.1010302

Abstract: Perturbation of huntingtin (HTT)’s physiological function is one postulated pathogenic factor in Huntington’s disease (HD). However, little is known how HTT is regulated in vivo. In a proteomic study, we isolated a novel ~40kDa protein… read more here.

Keywords: hap40; huntington disease; htt; mutant htt ... See more keywords
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Huntingtin and Its Partner Huntingtin-Associated Protein 40: Structural and Functional Considerations in Health and Disease

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Published in 2022 at "Journal of Huntington's Disease"

DOI: 10.3233/jhd-220543

Abstract: Since the discovery of the mutation causing Huntington’s disease (HD) in 1993, it has been debated whether an expanded polyglutamine (polyQ) stretch affects the properties of the huntingtin (HTT) protein and thus contributes to the… read more here.

Keywords: hap40; htt; disease; huntingtin associated ... See more keywords