A Positron Emission Tomography Ligand for Mutant Huntingtin Sheds Light on Disease
Sign Up to like & getrecommendations! Published in 2022 at "Movement Disorders"
DOI: 10.1002/mds.29019
Abstract: Huntington ’ s disease, a rare dominant degenerative disorder, manifests with neuropsychiatric changes and progres-sive cognitive and motor impairments. These diverse clinical manifestations re fl ect neurodegeneration initially in striatal medium spiny neurons and progressing… read more here.
Keywords: positron emission; htt; disease; mutant htt ... See more keywords
Deregulated Splicing Is a Major Mechanism of RNA-Induced Toxicity in Huntington's Disease.
Sign Up to like & getrecommendations! Published in 2019 at "Journal of molecular biology"
DOI: 10.1016/j.jmb.2019.01.034
Abstract: Huntington's disease (HD) is caused by an expanded CAG repeat in the huntingtin (HTT) gene, translating into an elongated polyglutamine stretch. In addition to the neurotoxic mutant HTT protein, the mutant CAG repeat RNA can… read more here.
Keywords: mutant htt; huntington disease; cag repeat; rna ... See more keywords
Mutant HTT (huntingtin) impairs mitophagy in a cellular model of Huntington disease
Sign Up to like & getrecommendations! Published in 2020 at "Autophagy"
DOI: 10.1080/15548627.2020.1728096
Abstract: ABSTRACT The precise degradation of dysfunctional mitochondria by mitophagy is essential for maintaining neuronal homeostasis. HTT (huntingtin) can interact with numerous other proteins and thereby perform multiple biological functions within the cell. In this study,… read more here.
Keywords: htt; mutant htt; kinase; huntington disease ... See more keywords
Characterization of huntingtin interactomes and their dynamic responses in living cells by proximity proteomics
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Neurochemistry"
DOI: 10.1111/jnc.15726
Abstract: Huntingtin (Htt) is a large protein without clearly defined molecular functions. Mutation in this protein causes Huntington's disease (HD), a fatal inherited neurodegenerative disorder. Identification of Htt‐interacting proteins by the traditional approaches including yeast two‐hybrid… read more here.
Keywords: htt; proximity; mutant htt; living cells ... See more keywords
HAP40 is a conserved central regulator of Huntingtin and a potential modulator of Huntington’s disease pathogenesis
Sign Up to like & getrecommendations! 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
Reduction in PA28αβ activation in HD mouse brain correlates to increased mHTT aggregation in cell models
Sign Up to like & getrecommendations! Published in 2022 at "PLOS ONE"
DOI: 10.1371/journal.pone.0278130
Abstract: Huntington’s disease is an autosomal dominant heritable disorder caused by an expanded CAG trinucleotide repeat at the N-terminus of the Huntingtin (HTT) gene. Lowering the levels of soluble mutant HTT protein prior to aggregation through… read more here.
Keywords: pa28 activation; aggregation; reduction pa28; mutant htt ... See more keywords
Cancer: From Wild-Type to Mutant Huntingtin
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Huntington's Disease"
DOI: 10.3233/jhd-180290
Abstract: Huntingtin (HTT) is a scaffold protein mostly known because it gives rise to the severe and incurable inherited neurological disorder Huntington’s disease (HD) when mutated. The Huntingtin gene (HTT) carries a polymorphic trinucleotide expansion of… read more here.
Keywords: mutant htt; type mutant; htt; wild type ... See more keywords