|1.||McCarty, Douglas M: 5 articles (12/2015 - 03/2009)|
|2.||Fu, Haiyan: 5 articles (12/2015 - 03/2009)|
|3.||Di Natale, Paola: 5 articles (01/2015 - 06/2002)|
|4.||Sanberg, Paul R: 5 articles (01/2014 - 12/2003)|
|5.||Willing, Alison E: 4 articles (01/2014 - 12/2003)|
|6.||Di Domenico, Carmela: 4 articles (04/2010 - 06/2002)|
|7.||Garbuzova-Davis, Svitlana: 4 articles (07/2009 - 12/2003)|
|8.||Di Napoli, Daniele: 3 articles (01/2015 - 07/2009)|
|9.||Heldermon, Coy D: 3 articles (09/2014 - 01/2007)|
|10.||Villani, Guglielmo R D: 3 articles (07/2009 - 06/2002)|
07/01/2010 - "The treatment slowed the disease progression by mediating widespread recombinant NaGlu expression in the CNS, resulting in the reduction of brain lysosomal storage pathology, significantly improved cognitive function and prolonged survival. "
01/01/2015 - "Here we sought to study the underlying retinal functional and morphological changes associated with MPS IIIB disease progression using the established model of MPS IIIB, the B6.129S6-Naglu(tm1Efn)/J mouse line. "
|2.||Mucopolysaccharidosis III (Sanfilippo Syndrome)
12/07/1999 - "The phenotype of the alpha-N-acetylglucosaminidase-deficient mice is sufficiently similar to that of patients with the Sanfilippo syndrome type B to make these mice a good model for study of pathophysiology and for development of therapy."
05/01/2010 - "Over 100 different mutations in the NAGLU gene have been identified in Sanfilippo syndrome type B patients; however, no large deletions have been reported. "
07/01/2009 - "Our results demonstrate the advantages of intravenously administering hUCB cells into a mouse model of Sanfilippo Syndrome type B, the advantages probably a result of Naglu delivery to enzyme-deficient organs."
01/01/2008 - "These data demonstrated the essential function in Arabidopsis consistent with the contribution of NAGLU to the Sanfilippo syndrome in human. "
12/01/2003 - "A mouse model of Sanfilippo syndrome type B was created by targeted disruption of the gene encoding Naglu, providing a powerful tool for understanding pathogenesis and developing novel therapeutic strategies. "
|3.||Brain Diseases (Brain Disorder)
04/01/2007 - "A mouse model with disruption of the Naglu gene allows detailed study of brain pathology. "
02/18/2003 - "Alpha-N-acetylglucosaminidase deficiency (mucopolysaccharidosis IIIB, MPS IIIB) and alpha-l-iduronidase deficiency (MPS I) are heritable lysosomal storage diseases; neurodegeneration is prominent in MPS IIIB and in severe cases of MPS I. We have obtained morphologic and molecular evidence for the involvement of microglia in brain pathology of mouse models of the two diseases. "
05/01/2013 - "A novel mutation (c.200T>C) in the NAGLU gene of a Korean patient with mucopolysaccharidosis IIIB."
04/18/2013 - "Mucopolysaccharidosis type IIIB (MPS IIIB) is a lysosomal storage disorder caused by over 130 mutations in NAGLU gene. "
04/18/2013 - "Mucopolysaccharidosis type IIIB mutations in Chinese patients: identification of two novel NAGLU mutations and analysis of two cases involving prenatal diagnosis."
01/01/2013 - "NAG activity is deficient in cells from patients with Mucopolysaccharidosis type IIIB (MPS IIIB) due to mutations in NAGLU, the gene that encodes NAG. "
07/01/2010 - "Restoration of central nervous system alpha-N-acetylglucosaminidase activity and therapeutic benefits in mucopolysaccharidosis IIIB mice by a single intracisternal recombinant adeno-associated viral type 2 vector delivery."
|5.||Lysosomal Storage Diseases (Lysosomal Storage Disease)
11/01/2009 - "Mucopolysaccharidosis type IIIB (Sanfilippo syndrome) is a lysosomal storage disease caused by a genetic defect in the production of alpha-N-acetylglucosaminidase. "
07/07/2009 - "Sanfilippo B syndrome (Mucopolysaccharidosis IIIB, MPS IIIB) is a lysosomal storage disease due to mutations in the gene encoding alpha-N-acetylglucosaminidase and is characterized by a severe neurological disorder. "
12/01/2015 - "No treatment is currently available for mucopolysaccharidosis (MPS) IIIB, a neuropathic lysosomal storage disease due to defect in α-N-acetylglucosaminidase (NAGLU). "
06/01/2014 - "No treatment is currently available for mucopolysaccharidosis (MPS) IIIB, a neuropathic lysosomal storage disease caused by autosomal recessive defect in α-N-acetylglucosaminidase (NAGLU). "
05/01/2010 - "Sanfilippo syndrome type B (MPS IIIB) is a lysosomal storage disease resulting from a deficiency of N-acetyl-glucosaminidase (NAGLU) activity. "
|3.||Heparitin Sulfate (Heparan Sulfate)
|7.||Lysergic Acid Diethylamide (LSD)
|9.||Acetyl Coenzyme A (Acetyl-CoA)
|10.||Calcium-Calmodulin-Dependent Protein Kinase Type 2