Results 11 to 20 of about 6,069 (180)

Engineering Bifunctional Galactokinase/Uridyltransferase Chimera for Enhanced UDP‑d‑Xylose Production [PDF]

JACS Au
Jin-Da Zhuang, Jin-Min Shi, Chen-Cheng Hong, Ting-Ting Wu, Li Liu, Josef Voglmeir   +5 more
doaj   +2 more sources

Transcriptional Profiling of Myceliophthora thermophila on Galactose and Metabolic Engineering for Improved Galactose Utilization

Frontiers in Microbiology, 2021
Efficient biological conversion of all sugars from lignocellulosic biomass is necessary for the cost-effective production of biofuels and commodity chemicals. Galactose is one of the most abundant sugar in many hemicelluloses, and it will be important to
Hanyu Wang, Hanyu Wang, Hanyu Wang, Tao Sun, Tao Sun, Zhen Zhao, Zhen Zhao, Shuying Gu, Shuying Gu, Qian Liu, Qian Liu, Taju Wu, Taju Wu, Depei Wang, Chaoguang Tian, Chaoguang Tian, Jingen Li, Jingen Li   +17 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   +5 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

Reshaping the Treatment Landscape of a Galactose Metabolism Disorder. [PDF]

J Inherit Metab Dis
ABSTRACT The Leloir pathway was elucidated decades ago, unraveling how galactose is metabolized in the body. Different inborn errors of metabolism in this pathway are known, the most frequent and well‐studied being Classic Galactosemia (CG) (OMIM 230400) due to pathogenic variants in the GALT gene.
Rubio-Gozalbo ME, Naomi Vos E, Rivera I, Lai K, Berry GT.   +4 more
europepmc   +2 more sources

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

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

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

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

D-galactose catabolism in Penicillium chrysogenum: Expression analysis of the structural genes of the Leloir pathway [PDF]

, 2016
In this study, we analyzed the expression of the structural genes encoding the five enzymes comprising the Leloir pathway of D-galactose catabolism in the industrial cell factory Penicillium chrysogenum on various carbon sources.
Fekete, Erzsébet, Flipphi, Michel, Jónás, Ágota, Karaffa, Levente, Németh, Zoltán   +4 more
core   +4 more sources