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 +5 more sources
Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates. [PDF]
PLoS ONE, 2017 Huntington disease is associated with elongation of a CAG repeat in the HTT gene that results in a mutant huntingtin protein. Several studies have implicated N-terminal huntingtin protein fragments in Huntington disease pathogenesis.
Menno H Schut +9 more
doaj +2 more sources
Phosphorylation of huntingtin at residue T3 is decreased in Huntington’s disease and modulates mutant huntingtin protein conformation [PDF]
Proceedings of the National Academy of Sciences of the United States of America, 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 ...
Margherita Verani +2 more
exaly +8 more sources
HIP1 (huntingtin interactin protein 1) [PDF]
Atlas of Genetics and Cytogenetics in Oncology and Haematology, 2011 Review on HIP1 (huntingtin interactin protein 1), with data on DNA, on the protein encoded, and where the gene is implicated.
Huret, JL, JL Huret
openaire +2 more sources
ACS Chemical Neuroscience, 2022 Huntington's disease is a progressive and lethal neurodegenerative disease caused by an increased CAG repeat mutation in exon 1 of the huntingtin gene (mutant huntingtin). Current drug treatments provide only limited symptomatic relief without impacting disease progression.
Khushboo Kapadia +9 more
openaire +3 more sources
A huntingtin peptide inhibits polyQ-huntingtin associated defects. [PDF]
PLoS ONE, 2013 Huntington's disease (HD) is caused by the abnormal expansion of the polyglutamine tract in the human Huntingtin protein (polyQ-hHtt). Although this mutation behaves dominantly, huntingtin loss of function also contributes to HD pathogenesis.
Yoan Arribat +5 more
doaj +2 more sources
The Cellular and Subcellular Localization of Huntingtin-Associated Protein 1 (HAP1): Comparison with Huntingtin in Rat and Human [PDF]
The Journal of Neuroscience, 1998 The cellular and subcellular distribution of HAP1 was examined in rat brain by light and electron microscopic immunocytochemistry and subcellular fractionation. HAP1 localization was also determined in human postmortem tissue from control and Huntington’s disease (HD) cases by light microscopic immunocytochemistry.
C A, Gutekunst +5 more
openaire +3 more sources
Lipid composition controls the huntingtin exon 1 membrane-association and differentially modulates its flanking regions' dynamics. [PDF]
Protein SciAbstract The pathological expansion of the polyglutamine (polyQ) repeat within the first exon of huntingtin (Httex1) protein is a defining hallmark of Huntington's disease (HD). Multiple evidence supports that the membrane recruitment of Httex1 is critical for its self‐assembly and related toxicity in HD.
Sousa T +6 more
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 ...
Manuel Seefelder +8 more
openaire +8 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