Results 11 to 20 of about 3,475 (159)

Multienzyme Platform for the Synthesis of UDP Sugars and Human Milk Oligosaccharides. [PDF]

Chembiochem
Engineered Escherichia coli produces six enzymes (UMPK, PPK3, GALK, NAHK, GALU, PPA) that are purified and used in a cell‐free cascade to synthesize UDP‐N‐acetylglucosamine (UDP‐GlcNAc) and UDP‐galactose (UDP‐Gal) from inexpensive substrates. The cascades can be coupled with glycosyltransferases for in situ nucleotide sugar regeneration, enabling ...
Hoang TS, Lange F, Kleeberg SB, Thomas L, Hoang NH, Reichl U, Rexer TFT.   +6 more
europepmc   +2 more sources

The Discovery of GALM Deficiency (Type IV Galactosemia) and Newborn Screening System for Galactosemia in Japan

International Journal of Neonatal Screening, 2021
The Leloir pathway, which consists of highly conserved enzymes, metabolizes galactose. Deficits in three enzymes in this pathway, namely galactose-1-phosphate uridylyltransferase (GALT), galactokinase (GALK1), and UDP-galactose-4′-epimerase (GALE), are ...
Atsuo Kikuchi, Yoichi Wada, Toshihiro Ohura, Shigeo Kure   +3 more
doaj   +1 more source

Survival of primary human hepatocytes and death of induced pluripotent stem cells in media lacking glucose and arginine. [PDF]

PLoS ONE, 2013
BACKGROUND: Tumorigenicity is an associated risk for transplantation of hepatocytes differentiated from human induced pluripotent stem (hiPS) cells. Hepatocytes express the enzymes galactokinase and ornithine transcarbamylase (OTC) to aid in their own ...
Minoru Tomizawa, Fuminobu Shinozaki, Takao Sugiyama, Shigenori Yamamoto, Makoto Sueishi, Takanobu Yoshida   +5 more
doaj   +1 more source

Hereditary galactokinase deficiency [PDF]

Archives of Disease in Childhood, 1971
A baby with galactokinase deficiency, a recessive inborn error of galactose metabolism, is described. The case is exceptional in that there was no evidence of gypsy blood in the family concerned. The investigation of neonatal hyperbilirubinaemia led to the discovery of galactosuria.
J G, Cook, N A, Don, T P, Mann
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

A double role of the Gal80 N terminus in activation of transcription by Gal4p

Life Science Alliance, 2020
Activation of gene expression by Gal4p in K. lactis requires an element in the N terminus of KlGal80p that mediates nuclear co-import of KlGal1p and galactokinase inhibition to support the co-inducer function of KlGal1p.
Annekathrin Reinhardt-Tews, Rościsław Krutyhołowa, Christian Günzel, Constance Roehl, Sebastian Glatt, Karin D Breunig   +5 more
doaj   +1 more source

HEK293T cell lines defective for O-linked glycosylation. [PDF]

PLoS ONE, 2017
Here we describe derivatives of the HEK293T cell line that are defective in their ability to generate mucin-type O-linked glycosylation. Using CRISPR/Cas9 and a single-cell GFP-sorting procedure, the UDP-galactose-4-epimerase (GALE), galactokinase 1 ...
James M Termini, Zachary A Silver, Bryony Connor, Aristotelis Antonopoulos, Stuart M Haslam, Anne Dell, Ronald C Desrosiers   +6 more
doaj   +1 more source

Molecular Structure of Galactokinase [PDF]

Journal of Biological Chemistry, 2003
Galactokinase plays a key role in normal galactose metabolism by catalyzing the ATP-dependent phosphorylation of alpha-D-galactose to galactose 1-phosphate. In humans, mutations in the galactokinase gene can lead to the diseased state referred to as Type II galactosemia. Here we describe the three-dimensional structure of galactokinase from Lactococcus
James B, Thoden, Hazel M, Holden
openaire   +2 more sources

Scalable and automated CRISPR-based strain engineering using droplet microfluidics

Microsystems & Nanoengineering, 2022
We present a droplet-based microfluidic system that enables CRISPR-based gene editing and high-throughput screening on a chip. The microfluidic device contains a 10 × 10 element array, and each element contains sets of electrodes for two electric field ...
Kosuke Iwai, Maren Wehrs, Megan Garber, Jess Sustarich, Lauren Washburn, Zachary Costello, Peter W. Kim, David Ando, William R. Gaillard, Nathan J. Hillson, Paul D. Adams, Aindrila Mukhopadhyay, Hector Garcia Martin, Anup K. Singh   +13 more
doaj   +1 more source

Galactokinase deficiency: lessons from the GalNet registry [PDF]

Genetics in Medicine, 2021
Galactokinase (GALK1) deficiency is a rare hereditary galactose metabolism disorder. Beyond cataract, the phenotypic spectrum is questionable. Data from affected patients included in the Galactosemias Network registry were collected to better characterize the phenotype.Observational study collecting medical data of 53 not previously reported GALK1 ...
Rubio-Gozalbo, M. Estela, Derks, Britt, Das, Anibh Martin, Meyer, Uta, Moeslinger, Dorothea, Couce, M. Luz, Empain, Aurelie, Ficicioglu, Can, Palacios, Natalia Julia, De Los Santos De Pelegrin, Mariela M., Rivera, Isabel A., Scholl-Buergi, Sabine, Bosch, Annet M., Cassiman, David, Demirbas, Didem, Gautschi, Matthias, Knerr, Ina, Labrune, Philippe, Skouma, Anastasia, Verloo, Patrick, Wortmann, Saskia B., Treacy, Eileen P., Timson, David J., Berry, Gerard T.   +23 more
openaire   +4 more sources