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
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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
Inhibition of PIP4Kγ ameliorates the pathological effects of mutant huntingtin protein. [PDF]
Elife, 2017 The discovery of the causative gene for Huntington’s disease (HD) has promoted numerous efforts to uncover cellular pathways that lower levels of mutant huntingtin protein (mHtt) and potentially forestall the appearance of HD-related neurological defects.
Al-Ramahi I +20 more
europepmc +2 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
The Evidence for the Spread and Seeding Capacities of the Mutant Huntingtin Protein in in Vitro Systems and Their Therapeutic Implications. [PDF]
Front Neurosci, 2017 Neurodegenerative disorders are not only characterized by specific patterns of cell loss but the presence and accumulation of various pathological proteins—both of which correlate with disease evolution.
Masnata M, Cicchetti F.
europepmc +2 more sources
Proceedings of the National Academy of Sciences of the United States of America, 2022 Significance Huntington’s disease is a fatal neurodegenerative condition caused by polyglutamine expansion (≥35) in the N-terminal region of the huntingtin protein encoded by exon-1 (httex1), resulting in fibril accumulation within neuronal inclusion ...
Alberto Ceccon +3 more
semanticscholar +1 more source
Human-to-mouse prion-like propagation of mutant huntingtin protein. [PDF]
Acta Neuropathol, 2016 Huntington’s disease (HD) is an autosomal dominant neurodegenerative disorder of the central nervous system (CNS) that is defined by a CAG expansion in exon 1 of the huntingtin gene leading to the production of mutant huntingtin (mHtt).
Jeon I +17 more
europepmc +2 more sources
Huntingtin protein interactions altered by polyglutamine expansion as determined by quantitative proteomic analysis [PDF]
Cell Cycle, 2012 Tamara Ratovitski +6 more
openalex +2 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
openaire +2 more sources
Huntingtin Protein Measurement
Definitions, 2020 The determination of the amount of huntingtin protein present in a sample.
semanticscholar +1 more source