Huntington disease: new insights into molecular pathogenesis and therapeutic opportunities

SJ Tabrizi, MD Flower, CA Ross, EJ Wild - Nature Reviews Neurology, 2020 - nature.com
Huntington disease (HD) is a neurodegenerative disease caused by CAG repeat expansion
in the huntingtin gene (HTT) and involves a complex web of pathogenic mechanisms …

Multiscale simulations of biological membranes: the challenge to understand biological phenomena in a living substance

G Enkavi, M Javanainen, W Kulig, T Róg… - Chemical …, 2019 - ACS Publications
Biological membranes are tricky to investigate. They are complex in terms of molecular
composition and structure, functional over a wide range of time scales, and characterized by …

Mutant huntingtin disrupts the nuclear pore complex

JC Grima, JG Daigle, N Arbez, KC Cunningham… - Neuron, 2017 - cell.com
Huntington's disease (HD) is caused by an expanded CAG repeat in the Huntingtin (HTT)
gene. The mechanism (s) by which mutant HTT (mHTT) causes disease is unclear …

Nucleocytoplasmic transport defects in neurodegeneration—Cause or consequence?

S Hutten, D Dormann - Seminars in cell & developmental biology, 2020 - Elsevier
Defects in nucleocytoplasmic transport have been associated with several
neurodegenerative disorders and, in particular, the formation of pathological protein …

Nucleocytoplasmic transport: regulatory mechanisms and the implications in neurodegeneration

B Ding, M Sepehrimanesh - International journal of molecular sciences, 2021 - mdpi.com
Nucleocytoplasmic transport (NCT) across the nuclear envelope is precisely regulated in
eukaryotic cells, and it plays critical roles in maintenance of cellular homeostasis …

Hexosamine biosynthetic pathway and O-GlcNAc-processing enzymes regulate daily rhythms in protein O-GlcNAcylation

X Liu, I Blaženović, AJ Contreras, TM Pham… - Nature …, 2021 - nature.com
The integration of circadian and metabolic signals is essential for maintaining robust
circadian rhythms and ensuring efficient metabolism and energy use. Using Drosophila as …

Nucleoporin foci are stress‐sensitive condensates dispensable for C. elegans nuclear pore assembly

L Thomas, B Taleb Ismail, P Askjaer… - The EMBO Journal, 2023 - embopress.org
Nucleoporins (Nups) assemble nuclear pores that form the permeability barrier between
nucleoplasm and cytoplasm. Nucleoporins also localize in cytoplasmic foci proposed to …

Protein folding and quality control during nuclear transport

S Mallik, D Poch, S Burick, C Schlieker - Current Opinion in Cell Biology, 2024 - Elsevier
The spatial separation of protein synthesis from the compartmental destiny of proteins led to
the evolution of transport systems that are efficient and yet highly specific. Co-translational …

[HTML][HTML] Spatial and temporal proteomics reveals the distinct distributions and dynamics of O-GlcNAcylated proteins

S Xu, M Tong, S Suttapitugsakul, R Wu - Cell reports, 2022 - cell.com
Protein O-GlcNAcylation plays critical roles in many cellular events, and its dysregulation is
related to multiple diseases. Integrating bioorthogonal chemistry and multiplexed …

Structural basis of O-GlcNAc recognition by mammalian 14-3-3 proteins

CA Toleman, MA Schumacher, SH Yu… - Proceedings of the …, 2018 - National Acad Sciences
O-GlcNAc is an intracellular posttranslational modification that governs myriad cell biological
processes and is dysregulated in human diseases. Despite this broad pathophysiological …