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 …
Biomolecular condensates that form via phase separation are increasingly regarded as coordinators of cellular reactions that regulate a wide variety of biological phenomena …
A multitude of cellular processes involve biomolecular condensates, which has led to the suggestion that diverse pathogenic mutations may dysregulate condensates. Although proof …
Pathological tau aggregation is a primary neuropathological feature of many neurodegenerative diseases. Intriguingly, despite the common presence of tau aggregates …
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 …
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 …
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 …
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 …
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 …