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Disease on EC 3.2.1.62 - glycosylceramidase

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DISEASE
TITLE OF PUBLICATION
LINK TO PUBMED
Brain Neoplasms
[On cerebrosidase of the glial tissue of brain tumors]
[The cerebrosidase activity of the human brain and brain tumors]
Colonic Neoplasms
Activity of the rat lactase gene promoter in transfected human colon cancer cells.
Novel fucogangliosides found in human colon adenocarcinoma tissues by means of glycomic analysis.
Colorectal Neoplasms
Genotyping of the lactase-phlorizin hydrolase c/t-13910 polymorphism by means of a new rapid denaturing high-performance liquid chromatography-based assay in healthy subjects and colorectal cancer patients.
Cryptococcosis
Quality control of fungus-specific glucosylceramide in Cryptococcus neoformans by endoglycoceramidase-related protein 1 (EGCrP1).
Gangliosidosis, GM1
Krabbe's globoid cell leucodystrophy. Studies on galactosylceramide beta-galactosidase and non-specific beta-galactosidase of leucocytes, cultured skin fibroblasts, and amniotic fluid cells.
Gastrointestinal Diseases
Immunoelectrophoretic studies on human small intestinal brush border proteins. A quantitative study of brush border enzymes from single small intestinal biopsies.
Gaucher Disease
Cross-talks among GBA mutations, glucocerebrosidase, and ?-synuclein in GBA-associated Parkinson's disease and their targeted therapeutic approaches: a comprehensive review.
Genetic Diseases, Inborn
Congenital Lactase Deficiency: Mutations, Functional and Biochemical Implications, and Future Perspectives.
Glioma
[On the cerebrosidase activity of brain gliomas]
Immunoglobulin Light-chain Amyloidosis
Systemic AL amyloidosis in Gaucher disease. A case report and review of the literature.
Influenza, Human
Hierarchy of sorting signals in chimeras of intestinal lactase-phlorizin hydrolase and the influenza virus hemagglutinin.
lactase deficiency
Assignment of the locus for congenital lactase deficiency to 2q21, in the vicinity of but separate from the lactase-phlorizin hydrolase gene.
Congenital Lactase Deficiency: Mutations, Functional and Biochemical Implications, and Future Perspectives.
Immunocytochemical heterogeneity of lactase-phlorizin hydrolase in adult lactase deficiency.
Lactose Intolerance
Biogenesis of intestinal lactase-phlorizin hydrolase in adults with lactose intolerance. Evidence for reduced biosynthesis and slowed-down maturation in enterocytes.
Correlation between lactose absorption and the C/T-13910 and G/A-22018 mutations of the lactase-phlorizin hydrolase (LCT) gene in adult-type hypolactasia.
Detecting and measuring selection from gene frequency data.
Genotyping of the lactase-phlorizin hydrolase -13910 polymorphism by LightCycler PCR and implications for the diagnosis of lactose intolerance.
Genotyping of the lactase-phlorizin hydrolase c/t-13910 polymorphism by means of a new rapid denaturing high-performance liquid chromatography-based assay in healthy subjects and colorectal cancer patients.
Hypolactasia as a molecular basis of lactose intolerance.
Identification of a variant associated with adult-type hypolactasia.
Immunocytochemical heterogeneity of lactase-phlorizin hydrolase in adult lactase deficiency.
Lactose intolerance and the genetic regulation of intestinal lactase-phlorizin hydrolase.
Lactose intolerance genetic testing: is it useful as routine screening? Results on 1426 south-central Italy patients.
Molecular and cellular aspects and regulation of intestinal lactase-phlorizin hydrolase.
Structure of the chromosomal gene and cDNAs coding for lactase-phlorizin hydrolase in humans with adult-type hypolactasia or persistence of lactase.
T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro.
The C/C_????? and G/G_????? Genotypes for Adult-type Hypolactasia are not Associated with Inflammatory Bowel Disease.
The effects of adult-type hypolactasia on body height growth and dietary calcium intake from childhood into young adulthood: a 21-year follow-up study--the Cardiovascular Risk in Young Finns Study.
The myth of increased lactose intolerance in African-Americans.
Transcriptional regulation of the lactase-phlorizin hydrolase gene by polymorphisms associated with adult-type hypolactasia.
Proteinuria
Systemic AL amyloidosis in Gaucher disease. A case report and review of the literature.
Vesicular Stomatitis
A novel type of detergent-resistant membranes may contribute to an early protein sorting event in epithelial cells.