Results 31 to 40 of about 8,693 (164)

High-Throughput Sequencing Reveals the Loss-of-Function Mutations in GALT Cause Recessive Classical Galactosemia

Frontiers in Pediatrics, 2020
Background: Classical Galactosemia (CG) is a rare autosomal recessive metabolic disease caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene.
Lulu Li, Li Ma, Min Sun, Jiancheng Jiao, Yudong Zhang, Yue Tang, Nan Yang, Yuanyuan Kong   +7 more
doaj   +1 more source

Molecular characterization of novel and rare DNA variants in patients with galactosemia

Frontiers in Genetics, 2023
Introduction: Galactosemia is an inherited disorder caused by mutations in the three genes that encode enzymes implicated in galactose catabolism. Currently, the only available treatment for galactosemia is life-long dietary restriction of galactose ...
Vasileios Maroulis, Andreas Agathangelidis, Anastasia Skouma, Triantafyllia Sdogou, Manoussos N. Papadakis, Evangelos Papakonstantinou, Panagiotis Girginoudis, Constantinos E. Vorgias, Vassiliki Aleporou, Panagoula Kollia   +9 more
doaj   +1 more source

Whole-body galactose oxidation as a robust functional assay to assess the efficacy of gene-based therapies in a mouse model of Galactosemia

Molecular Therapy: Methods & Clinical Development
Despite the implementation of lifesaving newborn screening programs and a galactose-restricted diet, many patients with classic galactosemia develop long-term debilitating neurological deficits and primary ovarian insufficiency.
Bijina Balakrishnan, Xinhua Yan, Marshall D. McCue, Olivia Bellagamba, Aaron Guo, Felicity Winkler, Jason Thall, Lisa Crawford, Rain Dimen, Sara Chen, Sean McEnaney, Yiman Wu, Mike Zimmer, Joe Sarkis, Paolo G.V. Martini, Patrick F. Finn, Kent Lai   +16 more
doaj   +1 more source

Compound heterozygosity with a novel S222N GALT mutation leads to atypical galactosemia with loss of GALT activity in erythrocytes but little evidence of clinical disease

Molecular Genetics and Metabolism Reports, 2015
Galactosemia is an inborn error of galactose metabolism caused by mutations in the GALT gene. Though early detection and galactose restriction prevent severe liver disease, affected individuals have persistently elevated biomarkers and often neuro ...
Benjamin Cocanougher, Umut Aypar, Amber McDonald, Linda Hasadsri, Michael J. Bennett, W. Edward Highsmith, Kristin D'Aco   +6 more
doaj   +1 more source

New Insights into Xenotransplantation for Cartilage Repair: Porcine Multi-Genetically Modified Chondrocytes as a Promising Cell Source

Cells, 2021
Transplantation of xenogenic porcine chondrocytes could represent a future strategy for the treatment of human articular cartilage defects. Major obstacles are humoral and cellular rejection processes triggered by xenogenic epitopes like α-1,3-Gal and ...
Hanna Tritschler, Konrad Fischer, Jochen Seissler, Jörg Fiedler, Rebecca Halbgebauer, Markus Huber-Lang, Angelika Schnieke, Rolf E. Brenner   +7 more
doaj   +1 more source

Engineering peptides into antibodies—opportunities and strategies for therapeutic innovation

FEBS Letters, EarlyView.
Peptides and antibodies occupy complementary therapeutic niches. Peptides recognize difficult targets in a compact format, while antibodies add specificity, long half‐life, and effector functions. This review examines strategies that merge both modalities—peptide grafting into loops, terminal and Fc fusions, and bioconjugation—highlighting how ...
Jinling Wang, Ruslana Romaniuk, Hristo L. Svilenov   +2 more
wiley   +1 more source

The Duarte (N314D) variant in the GALT gene has no effect on in vitro fertilization outcome

Fertility and Sterility, 2006
We assessed the effect of the Duarte (N314D) variant in the GALT gene on in vitro fertilization outcome measures. Our data do not definitely exclude variants in the GALT gene as factors influencing outcome, but the lack of suggestive evidence makes it difficult to justify a larger, more definitive study.
Yoshida, S, Steele, J, Koninckx, J, McVeigh, E, Kennedy, S   +4 more
openaire   +3 more sources

Golgi enzymes are retrieved from the plasma membrane to the trans‐Golgi network

FEBS Letters, EarlyView.
Golgi enzymes are traditionally considered resident proteins retained within the Golgi apparatus. Here, we demonstrate that a subset transiently reaches the cell surface and is subsequently retrieved to the trans‐Golgi network via retrograde transport. Using a nanobody‐based toolkit, we uncover a dynamic trafficking cycle of several Golgi enzymes.
Dominik P. Buser, Tina Junne
wiley   +1 more source

A review on the influence of dietary immunobiotics on the performance, intestinal morphology and immune-related gene expression in post-hatched broiler chicks

Aceh Journal of Animal Science, 2020
The use of antibiotics in the broiler industry is continuously increasing for promoting growth performance, improving the edible meat yield, and preventing microbial infections in the chicks.
Asad A. Khaskheli, Muhammad I. Khaskheli, Allah J. Khaskheli, Arshad A. Khaskheli   +3 more
doaj   +1 more source

Early postnatal alterations in follicular stress response and survival in a mouse model of Classic Galactosemia

Journal of Ovarian Research, 2022
Primary ovarian insufficiency is characterized by accelerated loss of primordial follicles, which results in ovarian failure and concomitant menopause before age 40. About 1–3% of females in the general population are diagnosed with POI; however, greater
Synneva Hagen-Lillevik, Joshua Johnson, Kent Lai   +2 more
doaj   +1 more source