Results 141 to 150 of about 31,902 (257)

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

USP52 acts as a deubiquitinase and promotes histone chaperone ASF1A stabilization

Nature Communications, 2018
Histone chaperone ASF1A is often dysregulated in cancers, however the regulation of its abundance is unclear. Here, the authors show that USP52 promotes ASF1A stability through deubiquitination while impairment of this stability reduces breast ...
Shangda Yang, Ling Liu, Cheng Cao, Nan Song, Yuejiao Wang, Shuai Ma, Qi Zhang, Na Yu, Xiang Ding, Fuquan Yang, Shanshan Tian, Kai Zhang, Tao Sun, Jie Yang, Zhi Yao, Shaoyuan Wu, Lei Shi   +16 more
doaj   +1 more source

RNA‐binding protein RBMS1: A new target for cancer diagnosis and treatment

Precision Medical Sciences, EarlyView.
This schematic illustrates the diverse regulatory roles of RNA‐binding motif single‐stranded interacting protein 1 (RBMS1) across multiple human cancers. In breast cancer, RBMS1 stabilizes B4GALT1 mRNA to promote PD‐L1 glycosylation, modulating tumor immune escape and immunotherapy efficacy.
Xingda Run, Shiwei Jiang, Kun Xu, Yu Fan, Yanwen Chen, Ziao Liu, Zengli Miao, Wei Tian   +7 more
wiley   +1 more source

Recent Advances in Photocatalyst‐Driven Protein Labeling and Proximity Mapping

The Chemical Record, EarlyView.
Photocatalyst‐driven protein labeling and proximity mapping have rapidly advanced as powerful strategies for spatiotemporal control in complex biological environments. This review integrates recent developments across single‐electron transfer and energy transfer‐based mechanisms and highlights how catalyst design, reactive intermediates, and diffusion ...
Shinichi Sato, Kazuki Miura, Juki Nakao, Hiroyuki Nakamura   +3 more
wiley   +1 more source

Coordination of histone chaperones for parental histone segregation and epigenetic inheritance

Genes & Development
Chromatin-based epigenetic memory relies on the accurate distribution of parental histone H3–H4 tetramers to newly replicated DNA strands. Mcm2, a subunit of the replicative helicase, and Dpb3/4, subunits of DNA polymerase ε, govern parental histone H3–H4 deposition to the lagging and leading strands, respectively.
Fang, Yimeng, Hua, Xu, Shan, Chun-Min, Toda, Takenori, Qiao, Feng, Zhang, Zhiguo, Jia, Songtao   +6 more
openaire   +4 more sources

Resolving Endoplasmic Reticulum‐Protein Misfolding Restores Corticosteroid Sensitivity in Experimental Models of Severe Asthma

Allergy, EarlyView.
This study investigates the role of ER stress in steroid resistance in severe asthma. Results from advanced 3D models of human bronchial epithelial cells, steroid‐resistant severe asthma mouse models, and human severe asthma sputum samples show that treatment with ICS in combination with the ER stress inhibitor 4‐PBA significantly enhances steroid ...
Prabuddha S. Pathinayake, Alexandra C. Brown, Nikhil T. Awatade, Philip M. Hansbro, Katherine J. Baines, Richard Y. Kim, Nathan W. Bartlett, Jay C. Horvat, Peter A. B. Wark   +8 more
wiley   +1 more source

Chromodomain Helicase DNA–Binding Proteins and Spermatogenesis: Current Advances

Andrology, EarlyView.
ABSTRACT Background Male infertility is a prevalent clinical condition, with approximately one‐third of cases classified as idiopathic, frequently stemming from impaired spermatogenesis because of dysregulated gene expression. Chromodomain helicase DNA‐binding (CHD) proteins are central chromatin remodelers that orchestrate this epigenetic regulation ...
Mingrui Zhang, Di Liu, Guoqiang Liu, Minggang Zhu, Feng Pan   +4 more
wiley   +1 more source

Compartmentalisation in cAMP signalling: A phase separation perspective

British Journal of Pharmacology, EarlyView.
Cells rely on precise spatiotemporal control of signalling pathways to ensure functional specificity. The compartmentalisation of cyclic AMP (cAMP) and protein kinase A (PKA) signalling enables distinct cellular responses within a crowded cytoplasmic space.
Milda Folkmanaite, Manuela Zaccolo
wiley   +1 more source

Pleiotropic Roles of FBXO11 in Tumorigenesis: Implications for Targeted Therapy

Cancer Science, EarlyView.
This complex comprises of scaffold CUL1, SKP1, RBX1 and FBXO11 receptor. The substrate is phosphorylated by specific kinase enzyme and recognized by the substrate recognition domain. FBXO11 targets numerous substrates for ubiquitination and degradation, FBXO11 substrates mainly include Snail, ZEB1, p53, BCL6, CDT2, CIITA, Cdc25a, hnRNPA2B1, SAMD1 and ...
Yuqi Zhang, Changyi Fan, Shiheng Chen, Tianyue Lu, Yuanyuan Li, Feng Du, Shanshan Wang   +6 more
wiley   +1 more source

Elucidating the Role of SET as a Key Contributor to Neurodevelopmental Disability Within the 9q34.11 Deletion Syndrome Interval

Clinical Genetics, EarlyView.
This study reports a female proband with a de novo 9q34.11 deletion affecting SET, who underwent a 28‐year diagnostic odyssey after an atypical Rett syndrome clinical diagnosis. Genomic and proteomics analyses confirmed SET haploinsufficiency, refining the critical 9q34.11 region, and supporting speech therapy benefits in improving meaningful ...
Angelo Condell, Elaine Zhang, Tim Sikora, Sean Massey, Nicole J. Van Bergen, Min Wang, Cas Simons, Katrina M. Bell, Daniella H. Hock, David A. Stroud, David Francis, Wendy A. Gold, Martin B. Delatycki, John Christodoulou, Simranpreet Kaur   +14 more
wiley   +1 more source