|1.||Hopwood, John J: 17 articles (01/2012 - 02/2002)|
|2.||Hemsley, Kim M: 10 articles (01/2012 - 08/2004)|
|3.||Fuller, Maria: 6 articles (01/2014 - 02/2006)|
|4.||Hopwood, J J: 6 articles (12/2012 - 06/2000)|
|5.||Hassiotis, Sofia: 5 articles (01/2012 - 03/2009)|
|6.||King, Barbara: 5 articles (08/2011 - 02/2006)|
|7.||Beard, Helen: 4 articles (01/2012 - 03/2009)|
|8.||Rozaklis, Tina: 4 articles (01/2012 - 03/2009)|
|9.||Byers, Sharon: 4 articles (09/2010 - 09/2007)|
|10.||Ballabio, Andrea: 3 articles (06/2014 - 11/2007)|
02/01/2012 - "Liver production of sulfamidase reverses peripheral and ameliorates CNS pathology in mucopolysaccharidosis IIIA mice."
06/01/2014 - "Mucopolysaccharidosis type IIIA is a severe degenerative disease caused by an autosomal recessive defect of a gene encoding a lysosomal heparan-N-sulfamidase, the N-sulfoglycosamine sulfohydrolase (SGSH), the catalytic site of which is activated by a sulfatase-modifying factor (SUMF1). "
05/01/2014 - "Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA."
05/01/2013 - "A highly secreted sulphamidase engineered to cross the blood-brain barrier corrects brain lesions of mice with mucopolysaccharidoses type IIIA."
12/27/2012 - "Mucopolysaccharidosis IIIA (MPS IIIA) is a lysosomal storage disorder caused by a deficiency in the activity of the lysosomal hydrolase, sulphamidase, an enzyme involved in the degradation of heparan sulphate. "
|2.||Mucopolysaccharidosis III (Sanfilippo Syndrome)
01/01/2010 - "These diseases exhibit widespread pathology yet result from a single gene deficiency, in the case of Sanfilippo syndrome the lysosomal enzyme sulfamidase. "
01/01/2001 - "This spontaneous mouse mutant is an excellent model for MPS III A in humans as this disease often arises due to a missense mutation in lysosomal sulfamidase."
01/01/2001 - "We now show that the sulfamidase gene of the MPS III A mouse carries a novel mutation (G91A) that gives an amino acid change (D31N) likely to interfere with the coordination of a divalent metal ion in the active site of this sulfatase. "
01/01/2001 - "We have previously identified a mouse with low sulfamidase activity and symptoms and pathologies typical of MPS III A (Bhaumik, M., Muller, V. J., Rozaklis, T., Johnson, L., Dobrenis, K., Bhattacharyya, R., Wurzelmann, S., Finamore, P., Hopwood, J. "
01/01/2001 - "A novel missense mutation in lysosomal sulfamidase is the basis of MPS III A in a spontaneous mouse mutant."
|3.||Lysosomal Storage Diseases (Lysosomal Storage Disease)
04/01/2015 - "Mucopolysaccharidosis (MPS) IIIA is a neuropathic lysosomal storage disease caused by deficiency in N-sulfoglucosamine sulfohydrolase (SGSH). "
01/01/2015 - "Mucopolysaccharidosis type IIIA (MPS-IIIA, Sanfilippo syndrome) is a Lysosomal Storage Disease caused by cellular deficiency of N-sulfoglucosamine sulfohydrolase (SGSH). "
02/01/2012 - "Mucopolysaccharidosis type IIIA (MPSIIIA) is an inherited lysosomal storage disease caused by deficiency of sulfamidase, resulting in accumulation of the glycosaminoglycan (GAG) heparan sulfate. "
12/01/1999 - "Mucopolysaccharidosis type III A (MPS III A, Sanfilippo syndrome) is a rare, autosomal recessive, lysosomal storage disease characterized by accumulation of heparan sulfate secondary to defective function of the lysosomal enzyme heparan N- sulfatase (sulfamidase). "
06/01/2004 - "Mucopolysaccharidosis type IIIA (MPSIIIA) is an autosomal recessive lysosomal storage disease caused by mutations in the N-sulfoglucosamine sulfohydrolase gene (SGSH; encoding sulfamidase, also sulphamidase) leading to the lysosomal accumulation and urinary excretion of heparan sulfate. "
|4.||Neurodegenerative Diseases (Neurodegenerative Disease)
05/01/1997 - "Sanfilippo A syndrome (mucopolysaccharidosis type IIIA, MPS-IIIA) is an autosomal recessive neurodegenerative disorder due to an enzymatic defect of the lysosomal enzyme sulphamidase (EC 22.214.171.124) required for the degradation of heparan sulphate. "
08/01/2012 - "Mucopolysaccharidosis IIIA (MPS IIIA or Sanfilippo disease) is a neurodegenerative disorder caused by a deficiency in the lysosomal enzyme sulfamidase (SGSH), catabolizing heparan sulfate (HS). "
05/01/2014 - "Mucopolysaccharidosis type IIIA (Sanfilippo A syndrome), a fatal childhood-onset neurodegenerative disease with mild facial, visceral and skeletal abnormalities, is caused by an inherited deficiency of the enzyme N-sulfoglucosamine sulfohydrolase (SGSH; sulfamidase). "
|5.||Multiple Sulfatase Deficiency Disease (Mucosulfatidosis)
|1.||Heparitin Sulfate (Heparan Sulfate)
|2.||N-sulfoglucosamine sulfohydrolase (sulfamidase)
|3.||Lysergic Acid Diethylamide (LSD)
|6.||heparan sulfate sulfatase
|9.||Staphylococcal Protein A (A, Protein)