Results 201 to 210 of about 507,433 (303)

Diagnosis of pediatric mitochondrial diseases via targeted next-generation sequencing (NGS): real-world data with the Blueprint Genetics^® platform. [PDF]

Orphanet J Rare Dis
Sapuppo A, Privitera GF, Sortino V, Pavone P, Polizzi A, Ruggieri M, Falsaperla R.   +6 more
europepmc   +1 more source

GATA4‐Driven Transcription of HtrA1 Promotes Cellular Senescence in Ménière's Disease and Age‐Related Audio‐Vestibular Dysfunction

Advanced Science, EarlyView.
This study identifies the HDAC6/GATA4/HtrA1 axis as a critical driver of cellular senescence in the inner ear. GATA4 nuclear translocation, facilitated by HDAC6 downregulation, transcriptionally activates HtrA1, promoting hair cell senescence, SASP, and audio‐vestibular dysfunction in models of Ménière's disease and age‐related audio‐vestibular ...
Na Zhang, Na Li, Yan Wang, Jing Zhang, Jiahui Liu, Lei Chen, Yongdong Song, Yurong Mu, Yuechen Han, Yafeng Lyu, Xiaofei Li, Hanyue Wang, Jing Wang, Yao Lu, Zhaomin Fan, Daogong Zhang, Haibo Wang   +16 more
wiley   +1 more source

Rewriting nuclear epigenetic scripts in mitochondrial diseases as a strategy for heteroplasmy control. [PDF]

EMBO Mol Med
Pérez MJ, Colombo RB, Real SM, Branham MT, Laurito SR, Moraes CT, Mayorga L.   +6 more
europepmc   +1 more source

LC3B Mediated SETDB1‐Accounted Alcoholic Steatohepatitis via Lipidation‐Dependent LAP and Lipidation‐Independent Nuclear Stabilization

Advanced Science, EarlyView.
SETDB1 is progressively downregulated in ALD, correlating with disease severity. SETDB1 deficiency impairs LAP by disrupting Rubicon membrane localization, leading to defective lipid droplet clearance. Concurrently, loss of SETDB1 reduces nuclear LC3B, causing R‐loop accumulation and cGAS‐STING‐driven inflammation. Lipidated LC3B mediates LAP‐dependent
Yi Zhang, Tan Wei, Jiahang Wu, Chuixu Lin, Dongbo Zhu, Yanhui Li, Shuting Shi, Shishun Huang, Leiming Jiang, Hongzhi Wang, Meiqi Song, Pengfei Gao, Xu Wu, Mingjian Fan, Chaofeng Wei, Qian Wang, Lihui Qu, Zhigang Wang   +17 more
wiley   +1 more source

Protein Nitration in Patients with Mitochondrial Diseases. [PDF]

Antioxidants (Basel)
Livramento JB, Rodrigues GS, Faber J, de Souza Filho LA, Moura FV, Barros CDS, Pinto WBVR, Schmidt B, Oliveira ASB, Kiyomoto BH, Tengan CH.   +10 more
europepmc   +1 more source

TRMT6‐Mediated m1A Modification of CDK9 mRNA Is a Dual‐Pronged Pathogenic Driver for HBV‐Related Hepatocellular Carcinoma

Advanced Science, EarlyView.
TRMT6‐mediated m1A modification in CDK9 mRNA enhances its mRNA stability and translation efficiency, thereby increasing the protein levels of CDK9. Upregulated CDK9 promotes the progression of HCC by elevating the levels of oncogenic factors including p‐STAT3, MCL1, and BCL‐2. On the other hand, CDK9 phosphorylates TARDBP at Ser254 to activate HBV core
Rui Zhang, Dandan Zong, Rui Liu, Yubo Wang, Qingqing Gu, Yao Yao, Wenfang Zheng, Mengmeng Yuan, Simeng Wang, Rongrong Cui, Daxu Li, Siwen Dang, Peng Hou   +12 more
wiley   +1 more source

Modelling mitochondrial diseases in neurons <i>In Vitro</i>: A systematic review. [PDF]

J Neuromuscul Dis
Zarate-Mendez M, Basha NA, Podmanicky O, Malig N, Hathazi D, Horvath R.   +5 more
europepmc   +1 more source

Electroacupuncture Improves the Learning and Memory by Modulating Hippocampal Glucose Metabolism through IGF1/IGF1R Signaling in Alzheimer's Disease

Advanced Science, EarlyView.
Electroacupuncture (EA) ameliorates learning and memory function in 5×FAD mice by regulating the brain glucose metabolic network. This neuroprotective effect is closely related to enhancing neuronal energy utilization via the IGF1/IGF1R signaling pathway.
Shengxiang Liang, Qingqing Zhang, Xiuxiu Wang, Lixin Peng, Xinru Ji, Jiawei Wang, Yusi Zhang, Jiayang Huang, Junchao Yang, Shiqi Zhan, Yiping Xiao, Weilin Liu, Lidian Chen   +12 more
wiley   +1 more source

Endocrine manifestations and long-term outcomes of patients with mitochondrial diseases. [PDF]

Orphanet J Rare Dis
Kim JH, Kim D, Hwang S, Kim GH, Lee BH, Yoo HW, Choi JH.   +6 more
europepmc   +1 more source

Paternal Circadian Disruption Impairs Offspring Cognition via Sperm microRNAs

Advanced Science, EarlyView.
Paternal circadian disruption remodels the sperm small RNA payload, elevating miR‐92a‐3p/miR‐25‐3p levels and perturbing early embryonic gene regulatory programs. Microinjection experiments and single‐embryo transcriptomics reveal sex‐specific developmental vulnerabilities, ultimately impairing offspring hippocampal synaptic plasticity and cognition ...
Kexin Zou, Sisi Luo, Binliang Tang, Zhiqiang Liu, Yuchuan Zhou, Yicong Meng, Zhengmu Wu, Zheng Sun, Weihui Shi, Jianzhong Sheng, Chuanjin Yu, Zhenhua Li, Siyi Wei, Mo Zhang, Yujie Luo, Jing Yan, Xueyun Qin, Jiahang Mo, Chengliang Zhou, Jinsong Li, Hefeng Huang, Yifu Ding, Guolian Ding   +22 more
wiley   +1 more source