Results 1 to 10 of about 450 (62)

Galactokinase 1 is the source of elevated galactose-1-phosphate and cerebrosides are modestly reduced in a mouse model of classic galactosemia. [PDF]

JIMD Rep
Abstract Classic galactosemia (CG) arises from loss‐of‐function mutations in the Galt gene, which codes for the enzyme galactose‐1‐phosphate uridylyltransferase (GALT), a central component in galactose metabolism. The neonatal fatality associated with CG can be prevented by galactose dietary restriction, but for decades it has been known that limiting ...
Mangini L, Lawrence R, Lopez ME, Graham TC, Bauer CR, Nguyen H, Su C, Ramphal J, Crawford BE, Hartl TA.   +9 more
europepmc   +2 more sources

UTP-Hexose-1-Phosphate Uridylyltransferase Deficiency [PDF]

, 2020
National Cancer Institute
openaire   +2 more sources

Experiences with galactosemia in Croatia [PDF]

Liječnički vjesnik, 2023
The aim of our study was to describe the characteristics of patients with classical galactosemia in Croatia, with the description of patients with galactokinase deficiency and a patient who was a double heterozygote for mutations of the galactose-1 ...
Ana Šmaguc, Danijela Petković Ramadža, Vladimir Sarnavka†, Vjekoslav Krželj, Bernarda Lozić, Silvija Pušeljić, Valentina Rahelić, Nikola Mesarić, Marina Grubić, Ana Bogdanić, Anita Špehar Uroić, Tamara Žigman, Ruža Grizelj, Jurica Vuković, Duško Mardešić, Ildiko Szatmari, Isabel Rivera, Ksenija Fumić, Ivo Barić   +18 more
doaj   +1 more source

Overexpression of UDP‐sugar pyrophosphorylase leads to higher sensitivity towards galactose, providing new insights into the mechanisms of galactose toxicity in plants

The Plant Journal, Volume 109, Issue 6, Page 1416-1426, March 2022., 2022
SUMMARY Galactose toxicity (Gal‐Tox) is a widespread phenomenon ranging from Escherichia coli to mammals and plants. In plants, the predominant pathway for the conversion of galactose into UDP‐galactose (UDP‐Gal) and UDP‐glucose is catalyzed by the enzymes galactokinase, UDP‐sugar pyrophosphorylase (USP) and UDP‐galactose 4‐epimerase.
Martina Althammer, Christof Regl, Klaus Herburger, Constantin Blöchl, Elena Voglas, Christian G. Huber, Raimund Tenhaken   +6 more
wiley   +1 more source

Control of sucrose accumulation in sugarcane (Saccharum spp. hybrids) involves miRNA‐mediated regulation of genes and transcription factors associated with sugar metabolism

GCB Bioenergy, Volume 14, Issue 2, Page 173-191, February 2022., 2022
The first report of miRNAs associated with sugar accumulation in sugarcane. More stem miRNAs upregulated in high‐sugar than in low‐sugar clone; reverse for leaf. miRNAs targeted sugar transport, metabolism genes and transcription factors (TFs). Sugar metabolism associated miRNA‐target mRNA pairs include 46 TFs. miR172, miR164, miR396 and miR169, likely
Miao Wang, Ao‐Mei Li, Fen Liao, Cui‐Xian Qin, Zhong‐Liang Chen, Li Zhou, Yang‐Rui Li, Xiao‐Feng Li, Prakash Lakshmanan, Dong‐Liang Huang   +9 more
wiley   +1 more source

Cell‐Free Multi‐Enzyme Synthesis and Purification of Uridine Diphosphate Galactose

ChemBioChem, Volume 23, Issue 2, January 19, 2022., 2022
An enzymatic platform was developed for the synthesis of UDP‐Gal from low‐cost and readily available precursors. The overall process was optimized for efficiency by bypassing time‐consuming and expensive enzyme purification steps followed by a scale‐up into a 1 L bioreactor. Here, within 23 h, a total of 23.4 g/L of UDP‐galactose were produced.
Reza Mahour, Ju Weon Lee, Pia Grimpe, Simon Boecker, Valerian Grote, Steffen Klamt, Andreas Seidel‐Morgenstern, Thomas F. T. Rexer, Udo Reichl   +8 more
wiley   +1 more source

Pathophysiology and targets for treatment in hereditary galactosemia: A systematic review of animal and cellular models

Journal of Inherited Metabolic Disease, Volume 43, Issue 3, Page 392-408, May 2020., 2020
Abstract Since the first description of galactosemia in 1908 and despite decades of research, the pathophysiology is complex and not yet fully elucidated. Galactosemia is an inborn error of carbohydrate metabolism caused by deficient activity of any of the galactose metabolising enzymes.
Minela Haskovic, Ana I. Coelho, Jörgen Bierau, Jo M. Vanoevelen, Laura K. M. Steinbusch, Luc J. I. Zimmermann, Eduardo Villamor‐Martinez, Gerard T. Berry, M. Estela Rubio‐Gozalbo   +8 more
wiley   +1 more source

Inborn errors of metabolite repair

Journal of Inherited Metabolic Disease, Volume 43, Issue 1, Page 14-24, January 2020., 2020
Abstract It is traditionally assumed that enzymes of intermediary metabolism are extremely specific and that this is sufficient to prevent the production of useless and/or toxic side‐products. Recent work indicates that this statement is not entirely correct.
Maria Veiga‐da‐Cunha, Emile Van Schaftingen, Guido T. Bommer   +2 more
wiley   +1 more source

Comparative Phenotype and Genome Analysis of Cellvibrio sp. PR1, a Xylanolytic and Agarolytic Bacterium from the Pearl River

BioMed Research International, Volume 2017, Issue 1, 2017., 2017
Cellvibrio sp. PR1 is a xylanolytic and agarolytic bacterium isolated from the Pearl River. Strain PR1 is closely related to Cellvibrio fibrivorans and C. ostraviensis (identity > 98%). The xylanase and agarase contents of strain PR1 reach up to 15.4 and 25.9 U/mL, respectively.
Zhangzhang Xie, Weitie Lin, Jianfei Luo, Nikolai V. Ravin   +3 more
wiley   +1 more source

Transcriptomic Analysis of Starch Biosynthesis in the Developing Grain of Hexaploid Wheat

International Journal of Plant Genomics, Volume 2009, Issue 1, 2009., 2009
The expression of genes involved in starch synthesis in wheat was analyzed together with the accumulation profiles of soluble sugars, starch, protein, and starch granule distribution in developing caryopses obtained from the same biological materials used for profiling of gene expression using DNA microarrays. Multiple expression patterns were detected
Boryana S. Stamova, Debbie Laudencia-Chingcuanco, Diane M. Beckles, Hikmet Budak   +3 more
wiley   +1 more source