Control of protein stability by post-translational modifications

JM Lee, HM Hammarén, MM Savitski… - Nature …, 2023 - nature.com
Post-translational modifications (PTMs) can occur on specific amino acids localized within
regulatory domains of target proteins, which control a protein's stability. These regions …

Molecular pathophysiological mechanisms in Huntington's disease

A Jurcau - Biomedicines, 2022 - mdpi.com
Huntington's disease is an inherited neurodegenerative disease described 150 years ago
by George Huntington. The genetic defect was identified in 1993 to be an expanded CAG …

Do post-translational modifications influence protein aggregation in neurodegenerative diseases: a systematic review

LN Schaffert, WG Carter - Brain sciences, 2020 - mdpi.com
The accumulation of abnormal protein aggregates represents a universal hallmark of
neurodegenerative diseases (NDDs). Post-translational modifications (PTMs) regulate …

Therapeutic approaches to Huntington disease: from the bench to the clinic

NS Caron, ER Dorsey, MR Hayden - Nature Reviews Drug Discovery, 2018 - nature.com
The 25 years since the identification of the gene responsible for Huntington disease (HD)
have stood witness to profound discoveries about the nature of the disease and its …

Humanising the mouse genome piece by piece

F Zhu, RR Nair, EMC Fisher, TJ Cunningham - Nature communications, 2019 - nature.com
To better understand human health and disease, researchers create a wide variety of mouse
models that carry human DNA. With recent advances in genome engineering, the targeted …

The pathobiology of perturbed mutant huntingtin protein–protein interactions in Huntington's disease

EE Wanker, A Ast, F Schindler, P Trepte… - Journal of …, 2019 - Wiley Online Library
Mutations are at the root of many human diseases. Still, we largely do not exactly
understand how they trigger pathogenesis. One, more recent, hypothesis has been that they …

[HTML][HTML] Targeting the proteostasis network in Huntington's disease

TR Soares, SD Reis, BR Pinho, MR Duchen… - Ageing Research …, 2019 - Elsevier
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by
a polyglutamine expansion mutation in the huntingtin protein. Expansions above 40 …

HD and SCA1: Tales from two 30-year journeys since gene discovery

LM Thompson, HT Orr - Neuron, 2023 - cell.com
One of the more transformative findings in human genetics was the discovery that the
expansion of unstable nucleotide repeats underlies a group of inherited neurological …

N-terminal Huntingtin (Htt) phosphorylation is a molecular switch regulating Htt aggregation, helical conformation, internalization, and nuclear targeting

SM DeGuire, FS Ruggeri, MB Fares, A Chiki… - Journal of Biological …, 2018 - ASBMB
Huntington's disease is a fatal neurodegenerative disorder resulting from a CAG repeat
expansion in the first exon of the gene encoding the Huntingtin protein (Htt) …

[HTML][HTML] Protofilament structure and supramolecular polymorphism of aggregated mutant huntingtin exon 1

JC Boatz, T Piretra, A Lasorsa, I Matlahov… - Journal of molecular …, 2020 - Elsevier
Huntington's disease is a progressive neurodegenerative disease caused by expansion of
the polyglutamine domain in the first exon of huntingtin (HttEx1). The extent of expansion …