Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele [PDF]
Molecular Genetics and Metabolism Reports, 2020 Background: Classical galactosemia is an autosomal recessive inherited metabolic disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. GALT enzyme deficiency leads to the accumulation of galactose-1-phosphate in various
Carolina Crespo +5 more
doaj +4 more sources
Single-cell transcriptomics reveals mechanisms of Galt gene editing–induced liver injury involving HGF–VEGF–mediated intercellular signaling in mice [PDF]
Frontiers in Cell and Developmental BiologyGalactosemia, a genetic disorder caused by mutations in the human GALT gene, often leads to multi-organ damage, with liver injury being particularly prominent.
Zhihao Li +39 more
doaj +4 more sources
Novel Mutation in GALT Gene in Galactosemia Patient with Group B Streptococcus Meningitis and Acute Liver Failure [PDF]
Medicina, 2019 Classic galactosemia is an autosomal recessive disorder caused by the deficiency of the enzyme galactose-1-phosphate uridyltransferase (GALT) involved in galactose metabolism.
Alina Grama +12 more
doaj +4 more sources
A case report of classic galactosemia with a GALT gene variant and a literature review [PDF]
BMC PediatricsBackground Galactosemia is an autosomal recessive disorder resulting from an enzyme defect in the galactose metabolic pathway. The most severe manifestation of classic galactosemia is caused by galactose-1-phosphate uridylyltransferase (GALT) deficiency,
Yong-cai Wang +5 more
doaj +2 more sources
Experimental Galactose-1-Phosphate Uridylyltransferase (GALT) mRNA Therapy Improves Motor-Related Phenotypes in a Mouse Model of Classic Galactosemia—A Pilot Study [PDF]
BiomedicinesBackground: Despite life-saving newborn screening programs and a life-long galactose-restricted diet, many patients with classic galactosemia continue to develop long-term debilitating neurological deficits, speech dyspraxia, and primary ovarian ...
Olivia Bellagamba +5 more
doaj +2 more sources
A Pilot Study of Bone Marrow Transplantation in a GALT‐Null Rat Model of Classic Galactosemia [PDF]
JIMD ReportsClassic galactosemia (CG) is a rare inborn error of metabolism with substantial unmet medical need. Early detection, often by population newborn screening, enables immediate and life‐long dietary restriction of galactose, which is the current standard of
Shauna A. Rasmussen +6 more
doaj +2 more sources
A pilot study of neonatal GALT gene replacement using AAV9 dramatically lowers galactose metabolites in blood, liver, and brain and minimizes cataracts in GALT‐null rat pups [PDF]
Journal of Inherited Metabolic Disease, 2021 Judith Fridovich-Keil
exaly +2 more sources
Neonatal GALT gene replacement offers metabolic and phenotypic correction through early adulthood in a rat model of classic galactosemia [PDF]
Journal of Inherited Metabolic Disease, 2022 Judith Fridovich-Keil
exaly +2 more sources
mBio, 2022 In Escherichia coli, transcription is coupled with translation. The polar gal operon is transcribed galE-galT-galK-galM; however, about 10% of transcription terminates at the end of galE because of Rho-dependent termination (RDT).
Heung Jin Jeon +3 more
doaj +1 more source
The genetic basis of classical galactosaemia in Polish patients
Orphanet Journal of Rare Diseases, 2021 Classic galactosemia (OMIM #230400) is an autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the galactose-1-phosphate uridylyltransferase gene (GALT; 606999) on chromosome 9p13. Its diagnosis is established
Aleksandra Jezela-Stanek +5 more
doaj +1 more source