Finding novel vulnerabilities of hypomorphic BRCA1 alleles
Synthetic lethality screens performed to identify novel vulnerabilities often model complete gene loss, thereby overlooking patient‐derived hypomorphic mutations. In this study, we have performed genome‐wide CRISPR screens on BRCA1 hypomorphic mutations, showing BRCA1I26A behaves like wild‐type, while BRCA1R1699Q mimics deficiency. Furthermore, we have
Anne Schreuder +10 more
wiley +1 more source
Neurodevelopmental proteasomopathies constitute a recently defined class of rare Mendelian disorders, arising from genomic alterations in proteasome-related genes.
Virginie Vignard +18 more
doaj +1 more source
Role of transcription factor acetylation in the regulation of metabolic homeostasis [PDF]
Post-translational modifications (PTMs) of transcription factors play a crucial role in regulating metabolic homeostasis. These modifications include phosphorylation, methylation, acetylation, ubiquitination, SUMOylation, and O-GlcNAcylation.
김태현, 안용호, 김미영
core +1 more source
Oncogenic DMTF1β promotes cancer cell motility by regulating autophagy through ULK1 stabilization
In the current study, we demonstrate that the oncogene DMTF1β regulates ULK1 stability by reducing its proteasomal degradation in cancer cells. This stabilization enables ULK1 to induce autophagy, which in turn facilitates cancer cell migration. Consequently, reduced DMTF1β levels lead to decreased autophagy and impaired cancer cell migration.
Jun Xu +13 more
wiley +1 more source
COP9 signalosome is required for adipose tissue maintenance and metabolic health
Constitutive photomorphogenesis mutant 9 (COP9) signalosome (CSN) is composed of eight subunits (CSN1 through CSN8). It acts as an essential regulator of Cullin-RING-ubiquitin ligases (CRLs), which target critical cellular regulators for degradation via ...
Hongyi Zhou +5 more
doaj +1 more source
Current Status and Challenges in Treatment of Relapsed/Refractory Multiple Myeloma
Multiple myeloma remains an incurable hematological malignancy. In recent years, the application of many agents has improved the survival and life quality of patients.
WAN Yike, HOU Jian
doaj +1 more source
Loss of proton‐sensing TDAG8 increases tumor progression in mouse models of colon cancer
Loss of the pH‐sensing receptor TDAG8 accelerates colorectal cancer progression in mice. Animals lacking TDAG8 expression had increased tumor growth, DNA damage, and recruitment of tumor‐associated immune cells, including macrophages, neutrophils, and monocytes.
Ermanno Malagola +11 more
wiley +1 more source
Lipid homeostasis is essential for endoplasmic reticulum protein quality control [PDF]
The endoplasmic reticulum (ER) is a critical organelle for protein synthesis, protein trafficking, and lipid synthesis. As such, cells have evolved a quality control system known as the ER Unfolded Protein Response (UPRER).
Garcia, Gilberto
core +1 more source
Structural Variations of Prions and Prion-like Proteins Associated with Neurodegeneration
Neurodegeneration is becoming one of the leading causes of death worldwide as the population expands and grows older. There is a growing desire to understand the mechanisms behind prion proteins as well as the prion-like proteins that make up ...
Carter Sky Christensen +4 more
doaj +1 more source
The role of insulin receptor substrate 2 in hypothalamic and β cell function [PDF]
Insulin receptor substrate 2 (Irs2) plays complex roles in energy homeostasis. We generated mice lacking Irs2 in β cells and a population of hypothalamic neurons (RIPCreIrs2KO), in all neurons (NesCreIrs2KO), and in proopiomelanocortin neurons ...
Hisadome, Kazunari +59 more
core +1 more source

