Spinocerebellar ataxia

T Klockgether, C Mariotti, HL Paulson - Nature reviews Disease primers, 2019 - nature.com
The spinocerebellar ataxias (SCAs) are a genetically heterogeneous group of autosomal
dominantly inherited progressive disorders, the clinical hallmark of which is loss of balance …

Unnatural helical peptidic foldamers as protein segment mimics

P Sang, J Cai - Chemical Society Reviews, 2023 - pubs.rsc.org
Unnatural helical peptidic foldamers have attracted considerable attention owing to their
unique folding behaviours, diverse artificial protein binding mechanisms, and promising …

Protein misfolding and ER stress in Huntington's disease

T Shacham, N Sharma… - Frontiers in molecular …, 2019 - frontiersin.org
Increasing evidence in recent years indicates that protein misfolding and aggregation,
leading to ER stress, are central factors of pathogenicity in neurodegenerative diseases …

Frequency of nuclear mutant huntingtin inclusion formation in neurons and glia is cell‐type‐specific

AHP Jansen, M Van Hal, IC Op den Kelder, RT Meier… - Glia, 2017 - Wiley Online Library
Huntington's disease (HD) is an autosomal dominant inherited neurodegenerative disorder
that is caused by a CAG expansion in the Huntingtin (HTT) gene, leading to HTT inclusion …

The role of TGF-β superfamily signaling in neurological disorders

R Kashima, A Hata - Acta biochimica et biophysica Sinica, 2018 - academic.oup.com
The TGF-β superfamily signaling is involved in a variety of biological processes during
embryogenesis and in adult tissue homeostasis. Faulty regulation of the signaling pathway …

Environmental factors modulating protein conformations and their role in protein aggregation diseases

S Devi, M Chaturvedi, S Fatima, S Priya - Toxicology, 2022 - Elsevier
The adverse physiological conditions have been long known to impact protein synthesis,
folding and functionality. Major physiological factors such as the effect of pH, temperature …

[HTML][HTML] Small molecule probes of protein aggregation

LM Young, AE Ashcroft, SE Radford - Current opinion in chemical biology, 2017 - Elsevier
Highlights•A range of functionally and structurally unrelated proteins form amyloid.•Toxic
intermediates remain elusive, making their targeting a significant challenge.•Design and …

Potential transfer of polyglutamine and CAG-repeat RNA in extracellular vesicles in Huntington's disease: background and evaluation in cell culture

X Zhang, ER Abels, JS Redzic, J Margulis… - Cellular and molecular …, 2016 - Springer
In Huntington's disease (HD) the imperfect expanded CAG repeat in the first exon of the HTT
gene leads to the generation of a polyglutamine (polyQ) protein, which has some neuronal …

Prediction and characterization of liquid-liquid phase separation of minimalistic peptides

Y Tang, S Bera, Y Yao, J Zeng, Z Lao, X Dong… - Cell Reports Physical …, 2021 - cell.com
Liquid-liquid phase separation (LLPS) of proteins mediates the assembly of biomolecular
condensates involved in physiological and pathological processes. Identifying the …

Imaging mutant huntingtin aggregates: development of a potential PET ligand

L Liu, ME Prime, MR Lee, V Khetarpal… - Journal of medicinal …, 2020 - ACS Publications
Mutant huntingtin (mHTT) protein carrying the elongated N-terminal polyglutamine (polyQ)
tract misfolds and forms protein aggregates characteristic of Huntington's disease (HD) …