Results 11 to 20 of about 4,935 (147)

Hypoaminoacidemia and Pyroglutamic Aciduria: Potential Biomarkers in Malnutrition-Related Hyperammonemia. [PDF]

JIMD Rep
ABSTRACT Hyperammonemia is a medical emergency, and the cause must be identified quickly in order to treat appropriately. Malnutrition is a known risk factor for hyperammonemia; however, there are limited reliable lab indicators used to identify malnutrition.
Crenshaw MM, D'Annibale OM, Martucci V, Gracie S, Kochhar A, Stansauk J, Larson A, Baker P, Peck C, Wood T, El-Gharbawy A, McCandless S, LoPiccolo MK.   +12 more
europepmc   +2 more sources

Unveiling the Potential of Lentilactobacillus hilgardii in Malolactic Fermentation: Comparative Genomics and Fermentation Dynamics. [PDF]

Microb Biotechnol
This study explores the metabolic potential of Lentilactobacillus hilgardii for malolactic fermentation in winemaking. Genomic and in silico analyses, combined with experimental validation, reveal its resilience at low temperatures and unique enzymatic traits. Comparative insights with Oenococcus oeni highlight L.
Mantegazza G, Mangieri N, Yazdi EV, Russo P, Mora D, Gargari G.   +5 more
europepmc   +2 more sources

Molecular and cellular mechanisms underlying gyrate atrophy: Why is the retina primarily affected? [PDF]

Acta Ophthalmol
Abstract Gyrate atrophy of the choroid and retina (GACR; OMIM #258870) is a rare early‐onset autosomal recessive disorder, caused by bi‐allelic pathogenic variants in the gene coding for ornithine aminotransferase (OAT) resulting in hyperornithinaemia.
Buijs MJN, Balfoort BM, Brands MM, Ten Asbroek ALMA, Boon CJF, Diederen RMH, Timmer C, Wagenmakers MAEM, Waterham HR, Wanders RJA, Houtkooper RH, van Karnebeek CD, Bergen AA.   +12 more
europepmc   +2 more sources

Network Analysis of Metabolite GWAS Hits: Implication of CPS1 and the Urea Cycle in Weight Maintenance. [PDF]

PLoS ONE, 2016
BACKGROUND AND SCOPE:Weight loss success is dependent on the ability to refrain from regaining the lost weight in time. This feature was shown to be largely variable among individuals, and these differences, with their underlying molecular processes, are
Alice Matone, Marie-Pier Scott-Boyer, Jerome Carayol, Parastoo Fazelzadeh, Gregory Lefebvre, Armand Valsesia, Celine Charon, Jacques Vervoort, Arne Astrup, Wim H M Saris, Melissa Morine, Jörg Hager   +11 more
doaj   +1 more source

Metformin Inhibits the Urea Cycle and Reduces Putrescine Generation in Colorectal Cancer Cell Lines

Molecules, 2021
The urea cycle (UC) removes the excess nitrogen and ammonia generated by nitrogen-containing compound composites or protein breakdown in the human body.
Tao Zhang, Ling Hu, Jia-Feng Tang, Hang Xu, Kuan Tian, Meng-Na Wu, Shi-Ying Huang, Yu-Mei Du, Peng Zhou, Rui-Jin Lu, Shuang He, Jia-Mei Xu, Jian-Jun Si, Jing Li, Di-Long Chen, Jian-Hua Ran   +15 more
doaj   +1 more source

HMG-CoA Synthase-2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease. [PDF]

JIMD Rep
ABSTRACT Mitochondrial HMG‐CoA synthase‐2 (HMGCS2) deficiency is characterized by hypoketotic hypoglycemia, metabolic acidosis, hepatomegaly, and encephalopathy with onset between 3 and 36 months of age. Approximately 50 cases were reported worldwide. We describe two patients with HMGCS2 deficiency.
Vaseenon H, Tim-Aroon T, Saengow VE, Sangcakul A, Wongkittichote P, Khongkraparn A, Wattanasirichaigoon D.   +6 more
europepmc   +2 more sources

Genomic and experimental evidence for multiple metabolic functions in the RidA/YjgF/YER057c/UK114 (Rid) protein family. [PDF]

, 2015
BackgroundIt is now recognized that enzymatic or chemical side-reactions can convert normal metabolites to useless or toxic ones and that a suite of enzymes exists to mitigate such metabolite damage.
Cooper, Arthur JL, Downs, Diana M, ElBadawi-Sidhu, Mona, Fiehn, Oliver, Gerdes, Svetlana, Hanson, Andrew D, Hodge-Hanson, Kelsey, Niehaus, Thomas D, Zhukov, Aleksey   +8 more
core   +4 more sources

Discovery of Sexual Dimorphisms in Metabolic and Genetic Biomarkers [PDF]

, 2011
Metabolomic profiling and the integration of whole-genome genetic association data has proven to be a powerful tool to comprehensively explore gene regulatory networks and to investigate the effects of genetic variation at the molecular level.
A Brandstätter, A Döring, A Köttgen, A Lorber, AA Hicks, Alexey Polonikov, AM Kim, Annette Peters, C Gieger, Christian Gieger, CM Rodrigues, CM Slupsky, CM Tingen, Cornelia Prehn, D Fairweather, Fabian J. Theis, Florian Kronenberg, G Paré, H Löwel, H-E Wichmann, Heinz Erich Wichmann, I Pe'er, J Krumsiek, J Nikkilä, J Yeboah, Jan Krumsiek, Janina S. Ried, Jerzy Adamski, JQ Purnell, Karsten Suhre, Kirstin Mittelstrass, LA Lange, M Steffens, Mark I. McCarthy, ML Summar, P Filzmoser, R Holle, R Paternoster, Rui Wang-Sattler, SE Geller, SE Reuter, Stephan Weidinger, T Illig, Thomas Illig, Thomas Meitinger, W Mostertz, Werner Roemisch-Margl, WL Holland, YS Aulchenko, Zhonghao Yu   +49 more
core   +6 more sources

Corticosteroid suppresses urea-cycle-related gene expressions in ornithine transcarbamylase deficiency

BMC Gastroenterology, 2022
Background Ornithine transcarbamylase deficiency (OTCD) is most common among urea cycle disorders (UCDs), defined by defects in enzymes associated with ureagenesis.
Koji Imoto, Masatake Tanaka, Takeshi Goya, Tomomi Aoyagi, Motoi Takahashi, Miho Kurokawa, Shigeki Tashiro, Masaki Kato, Motoyuki Kohjima, Yoshihiro Ogawa   +9 more
doaj   +1 more source

The loss of the urea cycle and ornithine metabolism in different insect orders: An omics approach. [PDF]

Insect Mol Biol
Among urea cycle enzymes, only the nitric oxide synthase gene is universally present across insect genomes. All Hemiptera species lack the enzymes needed to convert citrulline to arginine, and some also lack the pathway from arginine to ornithine. Putrescine and spermidine synthesis is conserved in all insects, but aphids lack the capability to produce
Martins JCS, Assunção Romão HA, Canettieri CK, Cercilian AC, Oliveira PRO, Ferreira C, Terra WR, de Oliveira Dias R.   +7 more
europepmc   +2 more sources