[HTML][HTML] Novel role of the SIRT1 in endocrine and metabolic diseases

C Lu, H Zhao, Y Liu, Z Yang, H Yao, T Liu… - … Journal of Biological …, 2023 - ncbi.nlm.nih.gov
Abstract Silent information regulator 1 (SIRT1), a highly conserved NAD+-dependent
deacetylase, is a cellular regulator that has received extensive attention in recent years and …

[HTML][HTML] Argininosuccinate lyase deficiency

SCS Nagamani, A Erez, B Lee - Genetics in medicine, 2012 - Elsevier
The urea cycle consists of six consecutive enzymatic reactions that convert waste nitrogen
into urea. Deficiencies of any of these enzymes of the cycle result in urea cycle disorders …

Nitric oxide modulates bone anabolism through regulation of osteoblast glycolysis and differentiation

Z Jin, J Kho, B Dawson, MM Jiang… - The Journal of …, 2021 - Am Soc Clin Investig
Previous studies have shown that nitric oxide (NO) supplements may prevent bone loss and
fractures in preclinical models of estrogen deficiency. However, the mechanisms by which …

mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria

S Gurung, OV Timmermand, D Perocheau… - Science translational …, 2024 - science.org
The urea cycle enzyme argininosuccinate lyase (ASL) enables the clearance of neurotoxic
ammonia and the biosynthesis of arginine. Patients with ASL deficiency present with …

Gene therapy for urea cycle defects: An update from historical perspectives to future prospects

C Duff, IE Alexander, J Baruteau - Journal of Inherited …, 2024 - Wiley Online Library
Urea cycle defects (UCDs) are severe inherited metabolic diseases with high unmet needs
which present a permanent risk of hyperammonaemic decompensation and subsequent …

Modelling urea cycle disorders using iPSCs

C Duff, J Baruteau - npj Regenerative Medicine, 2022 - nature.com
The urea cycle is a liver-based pathway enabling disposal of nitrogen waste. Urea cycle
disorders (UCDs) are inherited metabolic diseases caused by deficiency of enzymes or …

The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect

R Marom, IW Song, EC Busse, ME Washington… - The Journal of Clinical …, 2024 - jci.org
Osteogenesis imperfecta (OI) type V is the second most common form of OI, distinguished by
hyperplastic callus formation and calcification of the interosseous membranes, in addition to …

Sinapine thiocyanate ameliorates vascular endothelial dysfunction in hypertension by inhibiting activation of the NLRP3 inflammasome

Y Liu, H Yin, C Li, F Jiang, S Zhang… - Frontiers in …, 2021 - frontiersin.org
The increase of blood pressure is accompanied by the changes in the morphology and
function of vascular endothelial cells. Vascular endothelial injury and hypertension actually …

Role of Argininosuccinate Synthase 1‐Dependent L‐Arginine Biosynthesis in the Protective Effect of Endothelial Sirtuin 3 Against Atherosclerosis

X Cao, VWY Wu, Y Han, H Hong, Y Wu… - Advanced …, 2024 - Wiley Online Library
Atherosclerosis is initiated with endothelial cell (EC) dysfunction and vascular inflammation
under hyperlipidemia. Sirtuin 3 (SIRT3) is a mitochondrial deacetylase. However, the …

[HTML][HTML] Argininosuccinate lyase deficiency causes blood-brain barrier disruption via nitric oxide–mediated dysregulation of claudin expression

J Kho, U Polak, MM Jiang, JD Odom, JV Hunter… - JCI insight, 2023 - ncbi.nlm.nih.gov
Nitric oxide (NO) is a critical signaling molecule that has been implicated in the
pathogenesis of neurocognitive diseases. Both excessive and insufficient NO production …