|1.||Cravatt, Benjamin F: 6 articles (07/2015 - 11/2004)|
|2.||van Meel, Eline: 4 articles (01/2015 - 04/2011)|
|3.||Chang, Jae Won: 3 articles (07/2015 - 07/2013)|
|4.||Kornfeld, Stuart: 3 articles (01/2015 - 04/2011)|
|5.||Sandhoff, Konrad: 3 articles (12/2013 - 01/2012)|
|6.||Gieselmann, Volkmar: 3 articles (07/2012 - 04/2009)|
|7.||Matzner, Ulrich: 3 articles (07/2012 - 04/2009)|
|8.||Brunk, Ulf T: 3 articles (04/2008 - 03/2004)|
|9.||Devaki, Thiruvengadam: 3 articles (12/2006 - 05/2003)|
|10.||Zorin, N A: 3 articles (05/2006 - 05/2004)|
06/18/2013 - "These results indicate that the DMAP interaction domain of the α subunit functions in the selective recognition of acid hydrolase substrates and provides an explanation for the impaired phosphorylation of acid hydrolases in a patient with mucolipidosis II."
06/18/2013 - "Second, recombinant GlcNAc-1-phosphotransferase containing a missense mutation in the DMAP interaction domain (Lys732Asn) identified in a patient with mucolipidosis II exhibited full activity toward the simple sugar α-methyl d-mannoside but impaired phosphorylation of acid hydrolases. "
01/01/2010 - "Mutations in these genes result in two severe diseases, mucolipidosis type II (MLII) and III (MLIII), biochemically characterized by the missorting of multiple lysosomal hydrolases due to impaired formation of the M6P recognition marker, and general lysosomal dysfunction. "
12/17/2004 - "We report that fibroblasts isolated from patients affected with inclusion-cell disease (ICD), having a deficient activity of almost all lysosomal hydrolases, are resistant to the toxic effect of TNF. "
07/01/1995 - "The abnormality in the intracellular transport of the acid hydrolases into the lysosomes in I-cell disease is briefly reviewed and discussed."
|2.||Lysosomal Storage Diseases (Lysosomal Storage Disease)
06/01/2015 - "Lysosomal storage diseases (LSDs) are mainly caused by the defective activity of lysosomal hydrolases. "
01/01/2013 - "The lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders caused by the deficiency of any of the lysosomal functions, in most cases of lysosomal hydrolases. "
07/01/2012 - "Most lysosomal storage diseases are caused by defects in genes encoding for acidic hydrolases. "
12/01/2010 - "Gene defects that affect one or more of these hydrolases lead to LSDs (lysosomal storage diseases). "
07/01/2010 - "Specific genetic defects in lysosomal hydrolases disrupt normal GSL and ganglioside metabolism leading to their excess accumulation in cellular compartments, particularly in the lysosome, i.e., lysosomal storage diseases (LSDs). "
09/01/1984 - "Meanwhile protein deficiency did not cause any significant reduction in immune response and completely removed activation of lysosomal hydrolases."
01/01/1989 - "[Activity of lysosomal hydrolases and renewal of proteins in the rat liver, spleen, and thymus during antigenic stimulation and protein deficiency]."
01/01/1979 - "The significance of activator proteins for the proper interaction of lipid substrates and water-soluble hydrolases is illustrated by the fatal glycolipid storage resulting from an activator protein deficiency in the AB variant of GM2-gangliosidosis. "
|5.||Duodenal Ulcer (Curling's Ulcer)
01/01/2002 - "When studying the state of metabolism of the main substance of the connective tissue (glycosaminoglycan (GAG) and one of gag-hydrolases) in case of stomach and duodenal ulcers in patients under in-patient clinic conditions, it was shown that the amount of GAG in the urine approximately doubles in both groups in the state of exacerbation, and the given index reduces to the norm in the state of remission with a insignificant fluctuation of the b-glucuronidase level in the blood serum."
|6.||Sucrase (Sucrose alpha-D-Glucohydrolase)
|9.||Proteins (Proteins, Gene)
|1.||Homologous Transplantation (Allograft)
|2.||Enzyme Replacement Therapy
|4.||Bone Marrow Transplantation (Transplantation, Bone Marrow)