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Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. Zusätzlich bieten wir Ihnen Galactose-1-Phosphate Uridylyltransferase Proteine (21) und Galactose-1-Phosphate Uridylyltransferase Kits (12) und viele weitere Produktgruppen zu diesem Protein an.
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Cow (Bovine) Polyclonal GALT Primary Antibody für WB - ABIN2783382
Karas-Kuzelicki, Pfeifer, Lukac-Bajalo: Synergistic effect of high lactase activity genotype and galactose-1-phosphate uridyl transferase (GALT) mutations on idiopathic presenile cataract formation. in Clinical biochemistry 2008
novel splicing mutation in GALT gene causing Galactosemia in Ecuadorian family
17 VUS (37%; 7 in ACADM, 9 in GALT, and 1 in PAH) were reclassified from uncertain (6 to benign or likely benign and 11 to pathogenic or likely pathogenic). We identified common types of missing information that would have helped make a definitive classification and categorized this information by ease and cost to obtain
we present the 1.9 A resolution crystal structure of human GALT (hGALT) ternary complex, revealing a homodimer arrangement that contains a covalent uridylylated intermediate and glucose-1-phosphate in the active site, as well as a structural zinc-binding site, per monomer
A novel noncoding homozygous GALT variant associated with asymptomatic galactosemia has been described in an infant of consanguineous heterozygous parents.
Mutation activates a cryptic donor splice site, inducing an aberrant splicing of the GALT pre-mRNA, which in turn leads to a frameshift with inclusion of a premature stop codon.
GALT activity in red blood cells of patients with galactosaemia
In Korean population, novel GALT mutations were identified in the galactosemia patients different from those of other populations.
suggests that GALT mutations are ethnic-specific and that galactosemia is a heterogeneous disorder at the molecular level
In this report, we present GALT gene mutations in 56 cases of galactosemia from Turkey identified using DNA microarray resequencing.
Data suggest that in classic galactosemia residual GALT activity (predicted from activity of recombinant GALT matching patient's mutation) correlates with reduced ovarian reserve (as indicted by biological marker, circulating anti-Mullerian hormone (zeige AMH Antikörper)).
Our results thus demonstrated that GalT deficiency can effect down-regulation of the PI3K/Akt (zeige AKT1 Antikörper) growth signaling pathway in mouse fibroblasts through distinct mechanisms targeting both gene and protein expression levels.
Administration of a high-galactose (40% w/w) diet to lactating homozygous GalT gene-trapped females led to lethality in over 70% of the homozygous GalT gene-trapped pups before weaning.
Effects of GALT deficiency and dietary galactose on UDP-glucose pyrophosphorylase (zeige UGP2 Antikörper) and UDP-galactose (zeige B3GALT1 Antikörper) pyrophosphorylase activity and uridine diphosphate glucose expression in liver of mice with homozygous deletion of the critical regions of galt.
The finding is consistent with the function of UDP galactose (zeige B3GALT1 Antikörper) pyrophosphorylase as an alternate pathway of galactose metabolism.
Data show that PRL (zeige PRL Antikörper) signals through the short form of PRL (zeige PRL Antikörper) receptor RL, and causes, iin the absence of RL, a severe ovarian pathology by repressing the expression of FOXO3 (zeige FOXO3 Antikörper) and that of its target gene Galt.
Galactose-1-phosphate uridyl transferase (GALT) catalyzes the second step of the Leloir pathway of galactose metabolism, namely the conversion of UDP-glucose + galactose-1-phosphate to glucose-1-phosphate + UDP-galactose. The absence of this enzyme results in classic galactosemia in humans and can be fatal in the newborn period if lactose is not removed from the diet. The pathophysiology of galactosemia has not been clearly defined. Two transcript variants encoding different isoforms have been found for this gene.
, gal-1-P uridylyltransferase
, galactose-1-phosphate uridyl transferase
, galactose-1-phosphate uridylyltransferase
, galactose-1-phosphate uridylyltransferase, GalT
, galactose-1-phosphate uridylyltransferase GALT
, GalT galactose-1-phosphate uridylyltransferase
, Galactose-1-phosphate uridylyltransferase
, galactose-1P uridylyltransferase