Results 171 to 180 of about 2,990,182 (255)

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

Functional analysis of a novel splice site variant of RAB3GAP2 in a fetus with congenital cataracts. [PDF]

BMC Med Genomics
Tan X, Huang Y, Wei X, Lai Q, Pang L, Lan J, Liu Q, Qin J, Zeng F, Chen L, Yuan D.   +10 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

Case Report: a novel non-canonical splice site variant in COL4A5 in a patient with Alport syndrome. [PDF]

Front Med (Lausanne)
Wang X, Dong L, Qiu H, Wang B, Wang S, Zhou W.   +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

A novel FHOD3 splice-site variant in a Chinese family with hypertrophic cardiomyopathy: a case report. [PDF]

Front Cardiovasc Med
Zhou BY, Zhang YY, Ren N, Geng J.
europepmc   +1 more source

TECTB Variants Reveal Tectorial Membrane Vulnerability in Dominant Non‐Syndromic Hearing Loss

Advanced Science, EarlyView.
TECTB is a non‐collagenous protein of the tectorial membrane – an extracellular matrix of the cochlea. This study identifies dominant missense variants in TECTB linked to human hereditary deafness in two unrelated families. Genetically engineered mice homozygous for one of the variants are profoundly deaf, whereas heterozygous mice have normal hearing ...
Evan B. Hale, Barbara Vona, Richard J. Goodyear, Richard T. Osgood, Jun Shen, Sami S. Amr, Karen Mojica, Michaela A. H. Hofrichter, Jörg Schröder, Sophie Flandin, Paul Gratias, Ricardo Vera‐Monroy, Katherine Callahan, Kerry L. Gudlewski, Rolen Quadros, Masato Ohtsuka, JoAnn McGee, Edward J. Walsh, Cynthia C. Morton, Thomas Haaf, Channabasavaiah Gurumurthy, James E. Saunders, Guy P. Richardson, Artur A. Indzhykulian   +23 more
wiley   +1 more source

Functional validation of a non-canonical HNF1B splice-site variant in MODY5. [PDF]

Front Endocrinol (Lausanne)
Gong X, Zhang L, Ma Q, Zhang Y, Hu K, Jiang H, Peng H.   +6 more
europepmc   +1 more source

m5C Reader ALYREF Promotes the Progression of Endometrial Cancer by Activating the XRCC6‐Mediated Wnt/β‐catenin Signaling Pathway

Advanced Science, EarlyView.
This study identifies ALYREF as an oncogenic m5C reader in endometrial cancer. ALYREF recognizes NSUN2‐mediated m5C modification on XRCC6 mRNA to enhance transcript stability and increase XRCC6 expression. Elevated XRCC6 activates Wnt/β‐catenin signaling, resulting in accelerated tumor cell proliferation, migration, invasion, and xenograft tumor growth.
Linlin Hao, Jian Zhang, Qi Qian, Min Jiang, Yu Liu, Yan Geng, Nan Cui, Qi Guo, Jie Guo   +8 more
wiley   +1 more source

Expanding the Recessive Spectrum of Dilated Cardiomyopathy: RNA-Level Validation of a Homozygous <i>CTNNA3</i> Splice-Site Variant. [PDF]

Hum Mutat
Martino S, Doimo M, Iacoviello M, Giovine C, Stella A, Forleo C, Bagnulo R, Lenato GM, Guaricci AI, Trevisson E, Resta N.   +10 more
europepmc   +1 more source