Results 71 to 80 of about 6,069 (180)

Clinical and Developmental Outcomes After 50 Years of Newborn Bloodspot Screening for Classical Galactosaemia in the Republic of Ireland

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT Classical Galactosaemia (CG) is an inborn error of carbohydrate metabolism. In untreated neonates, CG leads to a multi‐organ toxicity with life‐threatening symptoms. Newborn Screening for CG began in the Republic of Ireland in 1972. In Ireland, two forms of neonatal screening occur. High‐risk infants are fed lactose‐free/galactose‐free formula
D. Pereira, E. Loftus, C. E. Thompson, F. Boyle, J. McNulty, R. Boruah, E. Crushell, C. Howard, J. Hughes, A. A. Monavari, E. P. Treacy, A. Beegan, N. Jordan, Y. Rogers, A. Collins, J. J. Brady, M. Elsammak, P. D. Mayne, I. Knerr   +18 more
wiley   +1 more source

An Arabidopsis T-DNA Insertion Mutant for Galactokinase (AtGALK, At3g06580) Hyperaccumulates Free Galactose and is Insensitive to Exogenous Galactose [PDF]

, 2017
Galactokinase (GALK, EC 2.7.1.6) is a cytosolic enzyme with a wide occurrence across the taxonomic kingdoms. It catalyzes the phosphorylation of α-d-galactose (Gal) to α-d-Gal-1-P.
Egert, Aurélie, Guyot, Christelle, Keller, Felix, Peters, Shaun, Stieger, Bruno   +4 more
core  

S‐Methyl Methanethiosulfonate, the Main Human Metabolite of S‐Methyl‐L‐Cysteine Sulfoxide, Alters Energy Metabolism in Prostate Cancer Cells

Molecular Nutrition &Food Research, Volume 69, Issue 8, April 2025.
In this study, we show that the sulfur compound commonly found in cruciferous and allium vegetables and the main human metabolite of S‐methyl‐L‐cysteine sulfoxide, called S‐methyl methanethiosulfonate (MMTSO), alters energy metabolism in DU145 prostate cancer cells.
Gemma Beasy, Federico Bernuzzi, Priscilla Day‐Walsh, Perla Tronsco‐Rey, Marianne Defernez, Shikha Saha, Richard F. Mithen, Maria H. Traka, Paul A. Kroon   +8 more
wiley   +1 more source

Regulation of Sugar Metabolism During Fermentation of Brewers' Spent Grain by Leuconostoc pseudomesenteroides DSM20193

Microbial Biotechnology, Volume 18, Issue 4, April 2025.
This study reveals the regulatory mechanism behind sugar metabolism and dextran synthesis by Leuconostoc pseudomesenteroides DSM20193 during the fermentation of a complex substrate like brewers spent grain. Understanding metabolic pathways and genetic adaptation of lactic acid bacteria in food environments can help develop fermented products with ...
Prabin Koirala, Ndegwa Maina, Dominik Mojzita, Rossana Coda   +3 more
wiley   +1 more source

Assessment of Long‐Term Safety and Efficacy of Purple Sweet Potato Color (PSPC) and Myo‐Inositol (MI) Treatment for Motor Related and Behavioral Phenotypes in a Mouse Model of Classic Galactosemia

Journal of Inherited Metabolic Disease, Volume 48, Issue 2, March 2025.
ABSTRACT Classic galactosemia (CG) is a rare inherited metabolic disease caused by mutations in the GALT gene encoding the enzyme galactose‐1 phosphate uridylyltransferase in galactose metabolism. The condition develops as a potentially fatal illness during the newborn period, but its acute clinical manifestations can be alleviated through a galactose ...
Olivia Bellagamba, Aaron j Guo, Sandhya Senthilkumar, Synneva Hagen Lillevik, Davide De Biase, Kent Lai, Bijina Balakrishnan   +6 more
wiley   +1 more source

The anomeric specificity of yeast galactokinase [PDF]

Anomeric specificity of yeast galactokinase by chromatographic ...
Heinrich, M. R., Howard, S. M.
core   +1 more source

Forward Genetic Dissection of Biofilm Development by Fusobacterium nucleatum: Novel Functions of Cell Division Proteins FtsX and EnvC. [PDF]

, 2018
Fusobacterium nucleatum is a key member of the human oral biofilm. It is also implicated in preterm birth and colorectal cancer. To facilitate basic studies of fusobacterial virulence, we describe here a versatile transposon mutagenesis procedure and a ...
Abu Amar Mohamed Al Mamun, Asis Das, Bo Hu, Chenggang Wu, Hui Wu, Hung Ton-That, Jianhua Gu, Ju Huck Lee, Marvin Whiteley, Melissa D’Amore, Truc Thanh Luong   +10 more
core   +2 more sources

Substrate recognition by the 4‐hydroxytryptamine kinase PsiK in psilocybin biosynthesis

FEBS Letters, Volume 599, Issue 3, Page 447-455, February 2025.
X‐ray crystallography and structure‐guided mutagenesis were used to gain insight into substrate recognition by the kinase that enables biosynthesis of psilocybin, the hallucinogenic substance in Psilocybe (magic) mushrooms. The results of this work will support bioengineering efforts aimed at generating novel variants of psilocybin with improved ...
Kai Rogge, Tobias Johannes Wagner, Dirk Hoffmeister, Bernhard Rupp, Sebastiaan Werten   +4 more
wiley   +1 more source

Electronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci [PDF]

, 2014
Purpose Cataract is the leading cause of blindness in the world, and in the United States accounts for approximately 60% of Medicare costs related to vision.
Berg, Richard L., Carlson, Christopher S., Carrell, Dave S., Chen, Lin, Crosslin, David R., Denny, Joshua C., Goodloe, Robert J., Hall, Molly A., Jarvik, Gail, Li, Rongling, Linneman, James G., McCarty, Catherine A., Pathak, Jyoti, Peissig, Peggy, Ramirez, Andrea H., Rasmussen, Luke V., Ritchie, Marylyn D., Torstenson, Eric S., Turner, Stephen D., Verma, Shefali S., Wang, Xiaoming, Wilke, Russell A., Wolf, Wendy A.   +22 more
core  

RNAseq analysis of Aspergillus fumigatus in blood reveals a just wait and see resting stage behavior [PDF]

, 2015
Background: Invasive aspergillosis is started after germination of Aspergillus fumigatus conidia that are inhaled by susceptible individuals. Fungal hyphae can grow in the lung through the epithelial tissue and disseminate hematogenously to invade into
Ana Conesa, Christoph Sasse, Gerhard H. Braus, Henriette Irmer, Jürgen Loeffler, Patrick Olbermann, Sonia Tarazona, Sven Krappmann   +7 more
core   +6 more sources