|1.||Lysosomal Storage Diseases (Lysosomal Storage Disease)
|1.||Castelnovo, Giovanni: 2 articles (01/2009 - 01/2009)|
|2.||Sabourdy, Frédérique: 2 articles (01/2009 - 01/2009)|
|3.||Renard, Dimitri: 2 articles (01/2009 - 01/2009)|
|4.||Labauge, Pierre: 2 articles (01/2009 - 01/2009)|
|5.||Levade, Thierry: 2 articles (01/2009 - 01/2009)|
|6.||de Champfleur, Nicolas: 2 articles (01/2009 - 01/2009)|
|7.||Paciotti, Silvia: 2 articles (08/2008 - 06/2008)|
|8.||Bibi, Lucia: 2 articles (08/2008 - 06/2008)|
|9.||Beccari, Tommaso: 2 articles (08/2008 - 06/2008)|
|10.||Balducci, Chiara: 2 articles (08/2008 - 06/2008)|
07/01/2003 - "Morphological and biochemical studies of human beta-mannosidosis: identification of a novel beta-mannosidase gene mutation."
04/10/1982 - "These studies suggest that goat liver contains both lysosomal beta-mannosidase (acidic form; deficient in beta-mannosidosis) and nonlysosomal beta-mannosidase (neutral) activity."
01/01/2009 - "beta-Mannosidosis (OMIM 248510) is a rare inborn lysosomal storage disorder caused by the deficient activity of beta-mannosidase, an enzyme encoded by a single gene (MANBA) located on chromosome 4q22-25. "
01/01/2009 - "Beta-mannosidosis (OMIM 248510) is an inborn lysosomal storage disorder caused by deficiency of beta-mannosidase activity. "
08/01/2008 - "We propose that the milder phenotype described in some beta-mannosidosis patients with missense mutations in the MANBA gene is not due to residual beta-mannosidase activity, but rather caused by epigenetic and/or environmental factors."
09/01/1995 - "Thin layer chromatography of amniotic and allantoic fluids was performed to detect oligosaccharides that accumulate in beta-mannosidosis. "
01/01/1993 - "Kidney, brain grey matter and brain white matter contained 33%, 12% and 4%, respectively, of the oligosaccharides expected in the organs of beta-mannosidosis animals. "
06/01/1992 - "Determination of sequence and linkage of tissue oligosaccharides in caprine beta-mannosidosis by fast atom bombardment, collisionally activated dissociation tandem mass spectrometry."
01/01/1992 - "The accumulating oligosaccharides in tissue were thus identical in bovine and caprine beta-mannosidosis; however, the source of the novel oligosaccharides remains to be determined."
01/01/1992 - "This investigation was designed to characterize accumulated kidney oligosaccharides in bovine beta-mannosidosis. "
09/01/1991 - "beta-Mannosidosis, an inherited defect of glycoprotein catabolism previously identified in goats and humans, has been recently diagnosed in Salers cattle. "
01/01/1984 - "Caprine beta-mannosidosis, an autosomal recessive disorder of glycoprotein catabolism, as yet undetected in man, was expressed in a 96/150 day gestation goat fetus. "
01/01/1983 - "Central nervous system (CNS) morphological changes were delineated in goats affected with beta-mannosidosis to determine the extent and distribution of lesions associated with this inherited glycoprotein metabolic perturbation. "
12/01/1984 - "We studied 22 cases of glycoprotein storage diseases and differentiated histochemically between alpha- and beta-mannosidosis, fucosidosis, and sialisidosis. "
05/01/1983 - "beta-Mannosidosis, not yet identified in man or other species, is characterized by distinctive neonatal clinical, pathological and biochemical features which differentiate it from the alpha-mannosidosis and other inherited diseases of glycoprotein catabolism."
|5.||Complementary DNA (cDNA)IBA
12/01/1999 - "To more fully understand the molecular pathology of this disease, the mutation associated with bovine beta-mannosidosis was identified by sequence analysis of cDNA from an affected calf. "
10/01/1996 - "A single-base deletion at position 1398 of the coding sequence was identified in the cDNA isolated from a goat affected with beta-mannosidosis. "
01/01/1998 - "Human beta-mannosidase cDNA characterization and first identification of a mutation associated with human beta-mannosidosis."
10/01/1996 - "The complete sequence of the caprine beta-mannosidase cDNA coding region has been determined, and a mutation that is associated with caprine beta-mannosidosis has been identified. "
10/01/1996 - "Caprine beta-mannosidase: sequencing and characterization of the cDNA and identification of the molecular defect of caprine beta-mannosidosis."
01/01/1992 - "Caprine beta-mannosidosis: regional differences in deficits of CNS myelin proteins."
01/22/1996 - "mRNA levels for central nervous system myelin proteins in myelin deficiency of caprine beta-mannosidosis."
08/20/1993 - "Since myelin-associated glycoprotein (MAG) is glycosylated and its metabolism could be directly affected in this disease, we investigated the possibility of a differential treatment of MAG in caprine beta-mannosidosis in comparison to non-glycosylated myelin proteins. "
04/15/1987 - "beta-D-Mannosidase activity in selected normal adult, neonatal and foetal goat tissues and in tissues from animals affected with caprine beta-mannosidosis was examined with the use of 4-methylumbelliferyl beta-D-mannopyranoside as substrate. "
01/01/1992 - "As in caprine beta-mannosidosis, oligosaccharides with terminal beta-mannose residues and cleaved as well as uncleaved chitobiose linkages were identified in bovine beta-mannosidosis kidney. "
08/20/1993 - "Caprine beta-mannosidosis is an inherited lysosomal storage disorder due to a deficiency of beta-mannosidase which cleaves beta-linked mannose residues from the ends of N-asparagine linked oligosaccharides of glycoproteins. "
10/08/1999 - "This review provides details on clinical features, genotype-phenotype correlations, enzymology and biochemical storage of four human glycoprotein lysosomal storage disorders, respectively alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency. "
10/08/1999 - "Glycoprotein lysosomal storage disorders: alpha- and beta-mannosidosis, fucosidosis and alpha-N-acetylgalactosaminidase deficiency."
01/01/1990 - "This paper presents an overview of the biochemistry and the clinical spectrum of this group of diseases including sialidosis, galactosialidosis, alpha- and beta-mannosidosis, fucosidosis, aspartylglucosaminuria, and alpha-N-acetylgalactosaminidase deficiency (Schindler disease). "
|9.||Messenger RNA (mRNA)IBA