Protein condensation diseases: therapeutic opportunities

M Vendruscolo, M Fuxreiter - Nature communications, 2022 - nature.com
Condensed states of proteins, including liquid-like membraneless organelles and solid-like
aggregates, contribute in fundamental ways to the organisation and function of the cell …

Phase separation as a missing mechanism for interpretation of disease mutations

B Tsang, I Pritišanac, SW Scherer, AM Moses… - Cell, 2020 - cell.com
It is unclear how disease mutations impact intrinsically disordered protein regions (IDRs),
which lack a stable folded structure. These mutations, while prevalent in disease, are …

It's not just a phase: function and characteristics of RNA-binding proteins in phase separation

HJ Wiedner, J Giudice - Nature structural & molecular biology, 2021 - nature.com
Biomolecular condensates that form via phase separation are increasingly regarded as
coordinators of cellular reactions that regulate a wide variety of biological phenomena …

Genetic variation associated with condensate dysregulation in disease

SF Banani, LK Afeyan, SW Hawken, JE Henninger… - Developmental cell, 2022 - cell.com
A multitude of cellular processes involve biomolecular condensates, which has led to the
suggestion that diverse pathogenic mutations may dysregulate condensates. Although proof …

Tau interactome and RNA binding proteins in neurodegenerative diseases

T Kavanagh, A Halder, E Drummond - Molecular neurodegeneration, 2022 - Springer
Pathological tau aggregation is a primary neuropathological feature of many
neurodegenerative diseases. Intriguingly, despite the common presence of tau aggregates …

The function of alternative splicing in the proteome: rewiring protein interactomes to put old functions into new contexts

P Kjer-Hansen, RJ Weatheritt - Nature Structural & Molecular Biology, 2023 - nature.com
Alternative splicing affects more than 95% of multi-exon genes in the human genome. These
changes affect the proteome in a myriad of ways. Here, we review our understanding of the …

PhaSepDB in 2022: annotating phase separation-related proteins with droplet states, co-phase separation partners and other experimental information

C Hou, X Wang, H Xie, T Chen, P Zhu… - Nucleic Acids …, 2023 - academic.oup.com
Phase separation (PS) proteins form droplets to regulate myriad membraneless organelles
(MLOs) and cellular pathways such as transcription, signaling transduction and protein …

[HTML][HTML] Mis-splicing of a neuronal microexon promotes CPEB4 aggregation in ASD

C Garcia-Cabau, A Bartomeu, G Tesei, KC Cheung… - Nature, 2024 - nature.com
The inclusion of microexons by alternative splicing occurs frequently in neuronal proteins.
The roles of these sequences are largely unknown, and changes in their degree of inclusion …

Cryo-EM structure of hnRNPDL-2 fibrils, a functional amyloid associated with limb-girdle muscular dystrophy D3

J Garcia-Pardo, A Bartolomé-Nafría… - Nature …, 2023 - nature.com
Abstract hnRNPDL is a ribonucleoprotein (RNP) involved in transcription and RNA-
processing that hosts missense mutations causing limb-girdle muscular dystrophy D3 …

Relevance of electrostatic charges in compactness, aggregation, and phase separation of intrinsically disordered proteins

G Bianchi, S Longhi, R Grandori, S Brocca - International Journal of …, 2020 - mdpi.com
The abundance of intrinsic disorder in the protein realm and its role in a variety of
physiological and pathological cellular events have strengthened the interest of the scientific …