Results 211 to 220 of about 2,610,885 (275)

Urea Cycle Review Using a Case Study on Ornithine Transcarbamylase Deficiency

, 2021
openaire   +1 more source

CircFAM65A/CANX Condensates Sequester FAM134B to Inhibit ER‐phagy and Suppress Hepatocellular Carcinoma Progression

Advanced Science, EarlyView.
The novel circRNA circFAM65A suppresses HCC progression. Mechanistically, circFAM65A drives CANX phase separation, which recruits FAM134B into condensates and blocks its interaction with LC3, thereby inhibiting ER‐phagy and HCC progression. Importantly, targeted circFAM65A delivery represents a potential therapeutic strategy for HCC.
Wenxiu Ru, Lunbiao Gan, Yu Lu, Yujing Guo, Qian Huang, Sha Yin, Fengze Nie, Sijia Di, Jiaqi Ning, Siyu Yao, Huanhuan Wan, Le Liu, Zehua Liu, Fa Yang, Weijun Qin, Weihong Wen   +15 more
wiley   +1 more source

Longitudinal Changes in Glutamine and Ammonia in Relation to Hyperammonemic Crisis in Urea Cycle Disorders. [PDF]

JIMD Rep
Yasuda Y, Nakajima Y, Sudo Y, Ishihara T, Ito T.   +4 more
europepmc   +1 more source

DUSP26 Regulated by YY1 Lactylation Couples Osteogenesis and Angiogenesis by Dephosphorylating PMPCB at Y141 and Activating Mitophagy in BMSCs

Advanced Science, EarlyView.
p300‐associated YY1 lactylation promotes DUSP26 expression in BMSCs. By regulating PMPCB phosphorylation and PINK1 processing, DUSP26 supports mitophagy, osteogenic differentiation, and pro‐angiogenic factor secretion. BMSC‐derived exosomes carrying a RUNX2 promoter‐driven DUSP26 plasmid favor osteogenic‐lineage transgene expression, partially ...
Yunpeng Lv, Feng Wu, Xiongjie Liang, Chong Liu, Wenhui Guo, Kejian Zhang, Jiawen Niu, Wenjie Jiang, Hongjian Xu, Anlong Jiang, Yang Zheng, Enming Yu, Xintao Wang, Jinglong Yan, Jingjun Xia, Chengchao Song   +15 more
wiley   +1 more source

Late-onset ornithine transcarbamylase deficiency with neurological damage and serial brain multimodality monitoring: a case report. [PDF]

Front Med (Lausanne)
Zhou Y, Liu Y, Zhou Y, Cao Y.
europepmc   +1 more source

A Novel Bioactive Component, Efoba, From Aged Garlic Targets CTSC to Suppress NET‐Driven Neuroinflammation and Ameliorate Secondary Brain Injury After Intracerebral Hemorrhage

Advanced Science, EarlyView.
Efoba, a novel bioactive component derived from aged garlic, confers neuroprotection against intracerebral hemorrhage. It acts on microglia to suppress CTSC release, inhibits NET‐mediated neural injury, and blocks pathological microglia‐neutrophil crosstalk. This study provides a highly promising lead compound for hemorrhagic‐stroke therapy.
Junjun Meng, Jianhua Wang, Tao Zhang, Xiaofan Fan, Jinxiu Guo, Shiyuan Zhao, Wenxue Sun, Pei Jiang   +7 more
wiley   +1 more source

A Complex Case of Ornithine Transcarbamylase Deficiency in a Patient With Severe Comorbid Conditions. [PDF]

Clin Case Rep
Khan M, Rafique SA, Khan S, Shah A, Karan A, Khalid AA, Afridi A, Tamim H, Talukder MRT.   +8 more
europepmc   +1 more source

Sarcopenia in Pediatric Intoxication Type Inborn Errors of Metabolism: A Frequent and Underrecognized Condition. [PDF]

J Inherit Metab Dis
Veraldi S, Basso MS, Soglia G, Cirelli R, Spagnoletti G, Bernabei SM, Esposito A, Rizzo C, Cairoli S, Martinelli D, Monti L, Spada M, Pietrobattista A, Dionisi-Vici C.   +13 more
europepmc   +1 more source

Amelioration of the neurological phenotype in PKU mouse model emphasizes the potential of base editing for metabolic diseases. [PDF]

Mol Ther Adv
Keskinen T, Hyvönen ME.
europepmc   +1 more source

Neonatal Acute Liver Failure due to Citrin Deficiency (NALFCD). [PDF]

JIMD Rep
Chan HY, Wong R, Fung CW, Belaramani KM, Mak CM, Yeung M, Chan T, Yeung C, Kwok Y, Kwok AM.   +9 more
europepmc   +1 more source