Detection of antibodies against the huntingtin protein in human plasma. [PDF]
Cell Mol Life Sci, 2023 AbstractHuntington’s disease (HD) is a dominantly inherited neurodegenerative disorder resulting from a CAG expansion in the huntingtin (HTT) gene, which leads to the production and accumulation of mutant huntingtin (mHTT). While primarily considered a disorder of the central nervous system, multiple changes have been described to occur throughout the ...
Denis HL +10 more
europepmc +5 more sources
Quantifying mutant huntingtin protein in human cerebrospinal fluid to support the development of huntingtin-lowering therapies. [PDF]
Sci Rep, 2023 AbstractHuntington’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.
Vauleon S +8 more
europepmc +4 more sources
Delineation of functional subdomains of Huntingtin protein and their interaction with HAP40. [PDF]
Structure, 2023 The huntingtin (HTT) protein plays critical roles in numerous cellular pathways by functioning as a scaffold for its many interaction partners and HTT knock out is embryonic lethal. Interrogation of HTT function is complicated by the large size of this protein so we studied a suite of structure-rationalized subdomains to investigate the structure ...
Alteen MG +13 more
europepmc +3 more sources
Phosphorylation of huntingtin at residue T3 is decreased in Huntington's disease and modulates mutant huntingtin protein conformation. [PDF]
Proc Natl Acad Sci U S A, 2017 Significance The findings in this manuscript report on the identification of a posttranslational modification in the huntingtin protein (phosphorylation on residue T3 in the N17 region of the protein), which can revert the conformational effects of the Huntington’s disease (HD) mutation itself on the huntingtin protein and inhibit its ...
Cariulo C +16 more
europepmc +9 more sources
Potential function for the Huntingtin protein as a scaffold for selective autophagy. [PDF]
Proc Natl Acad Sci U S A, 2014 Significance The normal function of the Huntingtin (HTT) protein is emerging. Here we report that selective autophagy requires an intact HTT protein in Drosophila and mouse CNS. We describe similarities in structure and binding activity between the C-terminal domain of HTT and the yeast autophagy scaffold ...
Ochaba J +17 more
europepmc +7 more sources
Vitamin C Transport Deficiency Alters Striatal Dopamine Gene Expression and Metabolism in YAC128 Huntington Disease Mice. [PDF]
Genes Brain BehavABSTRACT Neurodegeneration in Huntington disease (HD) contributes to dopaminergic system dysfunction via the loss of striatal medium spiny neurons expressing dopamine receptors. Given the key role for ascorbic acid (vitamin C) in dopamine synthesis and neurotransmission, we investigated whether mild cellular ascorbate deficiency accelerates ...
Tienda AA, Harrison FE, Wilcox JM.
europepmc +2 more sources
The evolution of the huntingtin-associated protein 40 (HAP40) in conjunction with huntingtin [PDF]
BMC Evolutionary Biology, 2020 AbstractBackgroundThe huntingtin-associated protein 40 (HAP40) abundantly interacts with huntingtin (HTT), the protein that is altered in Huntington’s disease (HD). Therefore, we analysed the evolution of HAP40 and its interaction with HTT.ResultsWe found that in amniotes HAP40 is encoded by a single-exon gene, whereas in all other organisms it is ...
Andrei N. Lupas +10 more
openaire +8 more sources
Huntingtin Interacting Proteins and Pathological Implications
International Journal of Molecular Sciences, 2023 Huntington’s disease (HD) is caused by an expansion of a CAG repeat in the gene that encodes the huntingtin protein (HTT). The exact function of HTT is still not fully understood, and previous studies have mainly focused on identifying proteins that interact with HTT to gain insights into its function.
Li Liu +7 more
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Stimulation of NeuroD activity by huntingtin and huntingtin-associated proteins HAP1 and MLK2 [PDF]
Proceedings of the National Academy of Sciences, 2003 NeuroD (ND) is a basic helix–loop–helix transcription factor important for neuronal development and survival. By using a yeast two-hybrid screen, we identified two proteins that interact with ND, huntingtin-associated protein 1 (HAP1) and mixed-lineage kinase 2 (MLK2), both of which are known to interact with huntingtin (Htt).
Katherine Gowan +2 more
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The Predicted Structure of the Headpiece of the Huntingtin Protein and Its Implications on Huntingtin Aggregation [PDF]
Journal of Molecular Biology, 2009 We have performed simulated tempering molecular dynamics simulations to study the thermodynamics of the headpiece of the Huntingtin (Htt) protein (N17(Htt)). With converged sampling, we found this peptide is highly helical, as previously proposed. Interestingly, this peptide is also found to adopt two different and seemingly stable states.
Kelley, Nicholas W. +5 more
openaire +4 more sources