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 …
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 …
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 …
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 …
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
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 …
embryogenesis and in adult tissue homeostasis. Faulty regulation of the signaling pathway …
Environmental factors modulating protein conformations and their role in protein aggregation diseases
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 …
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 …
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 …
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
Liquid-liquid phase separation (LLPS) of proteins mediates the assembly of biomolecular
condensates involved in physiological and pathological processes. Identifying the …
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) …
tract misfolds and forms protein aggregates characteristic of Huntington's disease (HD) …