Novel enhancer mediates the readthrough loci and gene expressions associated with fabry disease.

Fabry disease (FD) is a rare genetic condition caused by mutations in the gene, located on the X chromosome in the readthrough genomic region. This gene produces an enzyme called alpha-galactosidase A (α-Gal A). When the enzyme does not function properly due to the mutations, it causes harmful substances called globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) to build up in the body's lysosomes.

The potential consequences of bidirectional promoter methylation on and expression in Fabry disease phenotypes in a family of patients carrying a deletion variant.

Fabry disease (FD) is a rare inherited disease characterized by a wide range of symptoms attributed to mutations resulting in defective α-galactosidase A (α-Gal A) and accumulation of glycosphingolipids. The locus is paired in a divergent manner with the heterogeneous nuclear ribonucleoprotein locus mapped in the readthrough locus. As a follow-up to our recent finding of the co-regulation of and via a bidirectional promoter (BDP) in normal kidney and skin cells, the potential accumulative influence of BDP methylation and mutation on the severity of FD in patients from the same family, two males and two females carrying a deletion mutation, c.

Multifaceted roles of 5'-regulatory region of the cancer associated gene B4GALT1 and its comparison with the gene family.

β1,4-Galactosylransferases are a family of enzymes encoded by seven B4GALT genes and are involved in the development of anticancer drug resistance and metastasis. Among these genes, the B4GALT1 shows significant variations in the transcript origination sites in different cell types/tissues and encodes an interesting dually partitioning β-1, 4-galactosyltransferase protein. We identified at 5'-end of B4GALT1 a 1.