Results 161 to 170 of about 2,610,885 (275)

Seizure due to Lamotrigine Underexposure During High-Volume CRRT for Hyperammonaemia: A Case Report. [PDF]

Case Rep Crit Care
van Herwerden MC, Elderman JH, Favie LMA, Wagenmakers M.   +3 more
europepmc   +1 more source

Drug Repurposing for Treating NCOR‐Related Intellectual Disability

Advanced Science, EarlyView.
An autism‐associated NCOR1 heterozygous mutation upregulates NRGs and activates NRG backward signaling in hypothalamic GABAergic neurons in mouse models, leading to Gabra2 downregulation and cognitive deficits, which can be therapeutically targeted by repurposing FDA‐approved drugs.
Yan Kong, Wenjun Zhou, Yuxiang Sun, Zihan Huang, Zhiyue Liu, Udhaya Kumar. S, Chenyan Li, Yi Lu, Chengchuang Song, Veronica C. Ciliberto, Makenna Mack, Lana E. Kim, Zhaoyong Hu, Fang Luo, Aihua Cao, Zheng Sun   +15 more
wiley   +1 more source

Pre-emptive treatment in later-onset urea cycle disorders: a clinical perspective on glycerol phenylbutyrate. [PDF]

Orphanet J Rare Dis
Spada M, Porta F.
europepmc   +1 more source

Fire‐Safe Hierarchical Solid Polymer Electrolytes Enabled by Dual‐Functional Microcapsules for Lithium Metal Batteries

Advanced Science, EarlyView.
Dual‐functional fire‐safe microcapsules are integrated into hierarchical solid polymer electrolytes to provide sequential protection against thermal abuse. The ammonium hydrogen phytate‐modified shell forms a protective char barrier, while the thermally triggered release of perfluoro(2‐methyl‐3‐pentanone) actively suppresses combustion, enabling safer ...
Ziqi Huang, Jiuqing Gui, Qiaoying Cao, Yong Xiao, Hang Hu, Yeru Liang   +5 more
wiley   +1 more source

In Vivo Base Editing for Neonatal Inborn Errors of Metabolism: Clinical Progress, N-of-1 Therapy, and the Ethics of Bespoke Genetic Medicine. [PDF]

Cureus
Li OM, Li Y, Li SXT.
europepmc   +1 more source

Context‐Dependent Inverse Association of Glucose–Lipid Metabolic Status With Anemia: Evidence From Multinational Multicohort Analyses

Advanced Science, EarlyView.
Across six multinational cohorts, higher triglyceride–glucose index values are consistently associated with lower prevalent and incident anemia, despite their established adverse cardiometabolic significance. This inverse relationship varies across inflammatory, cardiovascular, and renal contexts, suggesting that glucose–lipid metabolic status carries ...
Guosong Jiang, Xinxing Wang, Lianfeng Xie, Wenna Ding, Yingyong Yin, Mei Yao, Zhibo Cui, Kaiqiang Tang, Lijie Zhong, Zhi Wang, Jia Wang, Lei Lei, Xiaoxiao Qu, Chi‐E. Qiu   +13 more
wiley   +1 more source

Metabolic mimicry of perioral myoclonia with absences: A signature of thalamocortical instability in childhood-onset ornithine transcarbamylase deficiency. [PDF]

Epileptic Disord
Bragatti JA, Grigoletto L.
europepmc   +1 more source

WFS1 Deficiency Impairs PIAS4‐Associated SUMOylation and Increases Ubiquitin‐Mediated Spermatogenesis‐Related Protein Degradation Leading to Testicular Male Infertility

Advanced Science, EarlyView.
The findings establish a critical role for WFS1 in human male fertility. Mechanistically, WFS1 interacts with PIAS4 to promote the SUMOylation of key spermatogenesis‐associated proteins, which in turn competitively inhibits their K48‐linked ubiquitin‐mediated degradation during spermatogenesis.
Yunchuan Tian, Guicheng Zhao, Xiang Wang, Xinyao Tang, Gan Shen, Tiechao Ruan, Chuan Jiang, Shikun Zhao, Jincheng Zhang, Xinyue Cui, Liangchai Zhuo, Jun Ma, Yihong Yang, Tingting Lin, Ying Shen   +14 more
wiley   +1 more source

PLOD1 Catalytic Activity Stabilizes ENO1 by Limiting FBXW7‐dependent Degradation to Promote Glycolysis and TMZ Resistance in Glioblastoma

Advanced Science, EarlyView.
PLOD1 interacts with ENO1 and limits its FBXW7‐dependent ubiquitination and proteasomal degradation through a mechanism requiring PLOD1 catalytic activity. ENO1 stabilization sustains glycolysis, promoting glioblastoma cell proliferation, migration, and temozolomide resistance.
Fen Xue, Dingkong Liang, Xin Chen, Fei Fan, Xiayun He   +4 more
wiley   +1 more source

Post-meal loss of consciousness in an adult patient with carbamoyl phosphate synthetase 1 deficiency and two newly identified heterozygous variants: a case report. [PDF]

BMC Neurol
Ye J, Al-Nusaif M, Yang J, Lu Z, Xie S, Lai Z, Lai J.   +6 more
europepmc   +1 more source