Results 161 to 170 of about 197,780 (305)

35 Individuals With HUWE1‐Related Neurodevelopmental Disorder and Suggested Clinical Evaluations

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X‐linked intellectual disability, including in the patients identified by Juberg, Marsidi, and ...
Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillmann, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano   +25 more
wiley   +1 more source

Author Correction: E3 ligase FBXW7 is critical for RIG-I stabilization during antiviral responses. [PDF]

Nat Commun
Song Y, Lai L, Chong Z, He J, Zhang Y, Xue Y, Xie Y, Chen S, Dong P, Chen L, Chen Z, Dai F, Wan X, Xiao P, Cao X, Liu Y, Wang Q.   +16 more
europepmc   +1 more source

Gorab deficiency in skin dermis accelerates aging and is associated with dysregulation of RCHY1‐mediated P53 ubiquitination

Animal Models and Experimental Medicine, EarlyView.
Based on a dermis fibroblast Gorab knockout mouse model, this study revealed that Gorab deficiency promotes skin aging by influencing RCHY1, causing a decrease in P53 ubiquitination, damaging the activity of HDAC2, further resulting in the accumulation of aging‐related proteins (P53, P21, P16) and a reduction in extracellular matrix (ECM) components ...
Yanhong Li, Wei Liang, Yanfeng Xu, Yunlin Han, Wenjie Zhao, Siyuan Wang, Wei Deng, Chuan Qin   +7 more
wiley   +1 more source

Identification of the E3 ligase TRIM21 as a crucial regulator of STAT1 in metabolic dysfunction-associated steatohepatitis. [PDF]

Cell Commun Signal
Chen XX, Shi HT, Xiao LL, Li H, Du BB, Huang Z, Zhang DH, Wu LM, Wu LN, Zhang JL.   +9 more
europepmc   +1 more source

Alternative Translation Initiation in PRKN Delays the Onset of Parkinson's Disease and Offers a Therapeutic Target

Annals of Neurology, EarlyView.
Objective Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...
Arian Hach, Katja Lohmann, Manabu Funayama, Poornima J. Menon, Eva‐Juliane Vollstedt, Teresa Kleinz, Hiroyo Yoshino, Suzanne Lesage, Britta Meier, Carolyn M. Sue, Jean‐Christophe Corvol, Alexis Brice, Nobutaka Hattori, Christine Klein, Aleksandar Rakovic   +14 more
wiley   +1 more source

E3 ligase LMO7 enhances temozolomide sensitivity by promoting MGMT degradation in lung cancer. [PDF]

J Biol Chem
Li J, Feng X, Deng Y, Chen B, Miao L, Liu Z, Sun Z, Hu L, Ma J, Zeng L, Wang X, Zhao Y.   +11 more
europepmc   +1 more source

The Role of miRNAs in Chicken Immune Regulation and Prospects for Disease‐Resistant Breeding

Animal Research and One Health, EarlyView.
A schematic workflow illustrating the screening of disease‐resistant miRNAs and the generation of miRNA‐based disease‐resistant chickens via PGC‐mediated germline genome editing. ABSTRACT MicroRNAs (miRNAs) are emerging as pivotal regulators of the immune system, playing a decisive role in shaping disease resistance in chicken.
Qiangzhou Wang, Weiran Wu, Qingqing Cai, Jiaxing Wang, Qi Gao, Muhammad Iftikhar, Yulin Bi, Hao Bai, Lihong Gu, Guobin Chang, Shihao Chen   +10 more
wiley   +1 more source

The many faces of the GID/CTLH E3 ligase complex. [PDF]

Biochem Soc Trans
Alpi AF, Chrustowicz J, Sherpa D, Schulman BA.   +3 more
europepmc   +1 more source

Recent Advances in Virus–Host Interactions, Antiviral Bioactive Compounds, and Breeding for Disease Resistance of Porcine Epidemic Diarrhea Virus

Animal Research and One Health, EarlyView.
Basic research on the PEDV infection cycle and virus–host interactions advances the development of anti‐PEDV drugs and disease‐resistant breeding and helps strengthen disease prevention and control while reducing economic losses in the swine industry.
Heyong Wu, Aosi Qi, Shuyu Zhong, Haozhen Du, Shimeng Guo, Hongsheng Ouyang, Hongming Yuan, Daxin Pang, Zicong Xie   +8 more
wiley   +1 more source

Identifying Systemic Lupus Erythematosus From Serum Proteomic Profiles Using Machine Learning and Genetic Risk Stratification

Arthritis &Rheumatology, EarlyView.
Objective Proteome‐wide risk models for lupus remain underexplored. We developed classification models to identify lupus from serum proteomic profiles. Methods Patients with lupus and individuals with other autoimmune diseases in the UK Biobank were included.
Mehmet Hocaoǧlu, Jishnu Das, Amr H. Sawalha   +2 more
wiley   +1 more source