PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 34712574-2 2021 It is caused by bi-allelic loss-of-function mutations in SGSH encoding sulphamidase, a lysosomal enzyme required for heparan sulphate glycosaminoglycan (HS GAG) degradation, that results in the progressive build-up of HS GAGs in multiple tissues most notably the central nervous system (CNS). Glycosaminoglycans 156-159 N-sulfoglucosamine sulfohydrolase Homo sapiens 71-83 34712574-2 2021 It is caused by bi-allelic loss-of-function mutations in SGSH encoding sulphamidase, a lysosomal enzyme required for heparan sulphate glycosaminoglycan (HS GAG) degradation, that results in the progressive build-up of HS GAGs in multiple tissues most notably the central nervous system (CNS). Glycosaminoglycans 221-225 N-sulfoglucosamine sulfohydrolase Homo sapiens 71-83 27331076-3 2016 We treated MPS IIIA mice at 1, 2, 3, 6, and 9 months of age with an intravenous injection of scAAV9-U1a-hSGSH vector, leading to restoration of SGSH activity and reduction of glycosaminoglycans (GAG) throughout the central nervous system (CNS) and somatic tissues at a dose of 5E12 vg/kg. Glycosaminoglycans 175-193 N-sulfoglucosamine sulfohydrolase Homo sapiens 104-109 27331076-3 2016 We treated MPS IIIA mice at 1, 2, 3, 6, and 9 months of age with an intravenous injection of scAAV9-U1a-hSGSH vector, leading to restoration of SGSH activity and reduction of glycosaminoglycans (GAG) throughout the central nervous system (CNS) and somatic tissues at a dose of 5E12 vg/kg. Glycosaminoglycans 195-198 N-sulfoglucosamine sulfohydrolase Homo sapiens 104-109 27491210-1 2016 Mucopolysaccharidosis type IIIA (MPS-IIIA) is a childhood metabolic neuropathology caused by the inherited deficiency of the lysosomal enzyme sulfamidase and is characterized by the accumulation of undegraded glycosaminoglycans in the lysosomes of cells and tissues of affected patients. Glycosaminoglycans 209-227 N-sulfoglucosamine sulfohydrolase Homo sapiens 0-31 23863627-3 2013 Mucopolysaccharidosis type IIIA (MPS IIIA) is an autosomic recessive LSD caused by a deficiency in sulfamidase, a sulfatase involved in the stepwise degradation of glycosaminoglycan (GAG) heparan sulfate. Glycosaminoglycans 164-187 N-sulfoglucosamine sulfohydrolase Homo sapiens 0-31