Results 91 to 100 of about 17,667 (261)

User-Loaded SlipChip for Equipment-Free Multiplexed Nanoliter-Scale Experiments [PDF]

, 2010
This paper describes a microfluidic approach to perform multiplexed nanoliter-scale experiments by combining a sample with multiple different reagents, each at multiple mixing ratios. This approach employs a user-loaded, equipment-free SlipChip.
Du, Wenbin, Ismagilov, Rustem, Li, Liang
core  

The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders

Orphanet Journal of Rare Diseases, 2020
Background Ketone bodies form a vital energy source for end organs in a variety of physiological circumstances. At different times, the heart, brain and skeletal muscle in particular can use ketones as a primary substrate.
Kaustuv Bhattacharya, Walid Matar, Adviye Ayper Tolun, Beena Devanapalli, Sue Thompson, Troy Dalkeith, Kate Lichkus, Michel Tchan   +7 more
doaj   +1 more source

Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China

Orphanet Journal of Rare Diseases, 2023
Background Glutaric acidemia type 1 (GA1) is a rare autosomal recessive inherited metabolic disorder caused by variants in the gene encoding the enzyme glutaryl-CoA dehydrogenase (GCDH).
Jinfu Zhou, Guilin Li, Lin Deng, Peiran Zhao, Yinglin Zeng, Xiaolong Qiu, Jinying Luo, Liangpu Xu   +7 more
doaj   +1 more source

Quorum Sensing Coordinates Carbon and Nitrogen Metabolism to Optimize Public Goods Production in Pseudomonas fluorescens 2P24

Advanced Science, Volume 12, Issue 12, March 27, 2025.
Pseudomonas fluorescens 2P24 utilizes a LasI/LasR‐type quorum sensing (QS) system, MupI/MupR, to regulate carbon and nitrogen metabolism for optimal production of secondary metabolites as public goods, including 2,4‐diacetylphloroglucinol, mupirocin, and siderophores.
Jie Li, Mengxue Nie, Hongguang Ma, Xuanying Tao, Yanxia Sun, Xinyue Tu, Pingping Zhang, Li‐Qun Zhang, Rong Jia, Yong‐Xing He, Nannan Zhang, Honghua Ge   +11 more
wiley   +1 more source

Glutaric aciduria type 1 and neonatal screening: time to proceed—with caution [PDF]

, 2018
The new technology of tandem mass spectrometry is having a significant impact on the diagnostics of inborn metabolic errors. One of the most important aspects of this new technology is the possibility of recognising a whole class of disorders within a ...
Superti-Furga, Andrea
core  

Analysis of polymorphic marker rs9384 located in the GCDH gene region associated with glutaricaciduria type 1. [PDF]

, 2016
زمینه و هدف: گلوتاریک اسید یوریای نوع 1 نوعی اختلال متابولیکی عصبی می باشد که در اثر جهش در ژن رمز کننده آنزیم گلوتاریل کوآدهیدروژناز (GCDH) ایجاد می شود.
Badr, Zahra., Jazayeri, Ali., Salehi, Zivar., Vallian-Brojeni, Sadegh.   +3 more
core  

Activation and inhibition of sirtuins: From bench to bedside

Medicinal Research Reviews, Volume 45, Issue 2, Page 484-560, March 2025.
Abstract The sirtuin family comprises seven NAD+‐dependent enzymes which catalyze protein lysine deacylation and mono ADP‐ribosylation. Sirtuins act as central regulators of genomic stability and gene expression and control key processes, including energetic metabolism, cell cycle, differentiation, apoptosis, and aging.
Francesco Fiorentino, Emanuele Fabbrizi, Antonello Mai, Dante Rotili   +3 more
wiley   +1 more source

Navigating the challenges of engineering composite specialized metabolite pathways in plants

The Plant Journal, Volume 121, Issue 6, March 2025.
SUMMARY Plants are a valuable source of diverse specialized metabolites with numerous applications. However, these compounds are often produced in limited quantities, particularly under unfavorable ecological conditions. To achieve sufficient levels of target metabolites, alternative strategies such as pathway engineering in heterologous systems like ...
Sachin A. Gharat, Vaijayanti A. Tamhane, Ashok P. Giri, Asaph Aharoni   +3 more
wiley   +1 more source

A Case of Glutaric Aciduria Type I with a Novel Mutation

Çukurova Üniversitesi Tıp Fakültesi Dergisi, 2013
Glutaric aciduria type I is an autosomal recessive inherited disorder caused by the deficiency of glutaryl CoA dehydrogenase. The incidence of the disease is 1/100.000. Glutaryl CoA dehydrogenase gene is located on locus 19p13.2.
Nilgun Uyduran Unal, Deniz Kor, Didem Yucel, Gulen Gul Mert, Neslihan Onenli Mungan   +4 more
doaj  

Glutaric aciduria type 1: a review of phenotypic and genetic characteristics

Journal of Biochemical and Clinical Genetics, 2019
Glutaric aciduria type I (GA1) is an inherited metabolic disorder in which excessive levels of the amino acids lysine, hydroxylysine, and tryptophan accumulate in the body as a result of defective glutaryl-CoA dehydrogenase (GCDH) enzyme activity ...
Ali M AlAsmari, Mohammed M Saleh, Abdul Ali Peer-Zada   +2 more
doaj   +1 more source