Results 141 to 150 of about 91,518 (258)

ACSL4‐Dependent Lysosomal Lipid Peroxidation Links WTAP‐Mediated m6A Modification to Intervertebral Disc Degeneration

Advanced Science, EarlyView.
IL‐1β upregulates the protein level of WTAP, which promotes the m6A modification of ACSL4 mRNA in an IGF2BP2‐dependent manner, thereby enhancing its stability. The increased ACSL4 drives lipid peroxidation, leading to lysosomal membrane permeabilization (LMP) and impaired mitophagy, which collectively accelerate intervertebral disc degeneration (IVDD).
Shu Jia, Xu Gao, Laimin Zhu, Haixia Song, Jing Wu, Shang Chen, Sheng Gao, Lu Zhang, Chunyang Meng   +8 more
wiley   +1 more source

Characterisation of a Leaky Splice-Site Mutation Associated with Phenotypic Diversity in Two Unrelated Patients with ARPC1B Deficiency. [PDF]

J Clin Immunol
Quach A, King J, Putty T, Gold M, Quinn P, Ferrante A.   +5 more
europepmc   +1 more source

A Novel AICDA Splice-Site Mutation in Two Siblings with HIGM2 Permits Somatic Hypermutation but Abrogates Mutational Targeting. [PDF]

J Clin Immunol, 2022
Dirks J, Haase G, Cantaert T, Frey L, Klaas M, Rickert CH, Girschick H, Meffre E, Morbach H.   +8 more
europepmc   +1 more source

YTHDC1 Orchestrates Glucose and Glutamate Rewiring to Overcome Lethal Metabolic Stress in Triple‐Negative Breast Cancer

Advanced Science, EarlyView.
Lai et al. find that m6A reader YTHDC1 is specifically overexpressed in triple‐negative breast cancer (TNBC) and orchestrates glucose and glutamine metabolism in an m6A‐dependent manner to confer robust adaptability to lethal metabolic stress. Leveraging YTHDC1 knockdown‐induced metabolic vulnerability, an ATF4 mRNA‐targeted nanotherapy is developed to
Zheng‐Hao Lai, Yi Wang, Na‐Na Li, Ling Zeng, Renzhong Liu, Xue Li, Cheukfai Li, Xin‐Yu Ma, Wenkui Fu, Yingsen Tang, Jinjin Chen, Ning Liao, Man‐Li Luo   +12 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

A novel androgen receptor gene splice site mutation induces aberrant mRNA splicing and internal in-frame deletion in androgen insensitivity syndrome. [PDF]

BMC Med Genomics
Liao B, Shuai M, Xiao L, Huang G, He Y, Wang YL, Wang H, He S.   +7 more
europepmc   +1 more source

Cancer‐Associated Fibroblasts Promote Glucose Metabolic Reprogramming and Progression of Triple‐Negative Breast Cancer via Exosomal circFAD104‐Mediated Intercellular Communication

Advanced Science, EarlyView.
CAF‐derived exosomes deliver circFAD104 into TNBC cells, where it acts as a molecular scaffold that bridges the E3 ligase MARCHF8 and PGM1, promoting MARCHF8‐mediated K48‐linked ubiquitination and proteasomal degradation of PGM1. Loss of PGM1 redirects glucose‐phosphate flux from glycogen synthesis toward glycolysis, thereby driving stemness, EMT, and ...
Lei Wang, Xiaoyan Li, Yiran Liang, Yifei Wang, Yuhan Jin, Jianing Wang, Dan Luo, Yuxia Yang, Jingze Yang, Yaming Li, Tong Chen, Dianwen Han, Zekun Wang, Wenjing Zhao, Bing Chen, Lijuan Wang, Qifeng Yang   +16 more
wiley   +1 more source

Correction of MYBPC3 c.772G>A Splice-Site Mutation by Base Editing Ameliorates Hypertrophic Cardiomyopathy in Humanized Mice. [PDF]

Circ Res
Zhang Y, Jiao S, Yang G, Wang J, Yang X, Li Z.   +5 more
europepmc   +1 more source

A Series of 14 Polish Patients with Thrombotic Events and PC Deficiency-Novel c.401-1G>A PROC Gene Splice Site Mutation in a Patient with Aneurysms [PDF]

Genes (Basel), 2022
Weronska A, Potaczek DP, Oto J, Medina P, Undas A, Wypasek E.   +5 more
europepmc   +1 more source

Targeting LDHA Palmitoylation Sensitizes GBM to Chemoradiotherapy via Suppressing Palmitic Acid Induced Glycolytic Reprogramming

Advanced Science, EarlyView.
Mesenchymal GSCs preferentially uptake palmitic acid, thereby promoting ZDHHC12‐mediated LDHA palmitoylation. This modification enhances LDHA enzymatic activity, drives glycolytic reprogramming, and facilitates exosomal LDHA‐mediated TAM regulation.
Zijie Gao, Rongrong Zhao, Zheyuan Chen, Qingtong Wang, Huanyu Yang, Boyan Li, Yanhua Qi, Shulin Zhao, Jixing Zhao, Jiawei Qiu, Ziwen Pan, Zhe Han, Ruochuan Li, Huize Xia, Weijie Tang, Xing Guo, Ping Zhang, Hongyu Zhao, Xu Qian, Gang Li, Hao Xue   +20 more
wiley   +1 more source