PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 2115154-1 1990 Scheie syndrome is a rare inborn error of metabolism, a mucopolysaccharidosis in which deficiency of the lysosomal enzyme alpha-L-iduronidase leads to tissue accumulation of mucopolysaccharides. Glycosaminoglycans 174-193 alpha-L-iduronidase Homo sapiens 122-141 34746235-2 2021 Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease characterized by the deficiency of alpha-L-iduronidase (IDUA), an enzyme involved in glycosaminoglycan degradation. Glycosaminoglycans 156-173 alpha-L-iduronidase Homo sapiens 106-125 34746235-2 2021 Mucopolysaccharidosis type I (MPS I) is an autosomal recessive disease characterized by the deficiency of alpha-L-iduronidase (IDUA), an enzyme involved in glycosaminoglycan degradation. Glycosaminoglycans 156-173 alpha-L-iduronidase Homo sapiens 127-131 33572941-2 2021 IDUA catalyzes the degradation of the glycosaminoglycans dermatan and heparan sulfate (DS and HS, respectively). Glycosaminoglycans 38-56 alpha-L-iduronidase Homo sapiens 0-4 6412235-4 1983 Fibroblasts cultured from the skin of the affected dogs accumulated excessive 35S-labeled mucopolysaccharide; this accumulation could be decreased to a normal level by exogenous human high-uptake alpha-L-iduronidase (Hurler corrective factor) as well as by secretions of normal human or canine fibroblasts. Glycosaminoglycans 90-108 alpha-L-iduronidase Homo sapiens 196-215 33198351-1 2020 The lysosomal storage disorder, mucopolysaccharidosis I (MPSI), results from mutations in IDUA, the gene that encodes the glycosaminoglycan-degrading enzyme alpha-L-iduronidase. Glycosaminoglycans 122-139 alpha-L-iduronidase Homo sapiens 90-94 33287330-3 2020 The subsequent complete deficiency of alpha l-iduronidase enzyme is directly responsible of a progressive accumulation of glycosaminoglycans (GAG) in lysosomes which affects the functions of many tissues. Glycosaminoglycans 122-140 alpha-L-iduronidase Homo sapiens 38-57 33287330-3 2020 The subsequent complete deficiency of alpha l-iduronidase enzyme is directly responsible of a progressive accumulation of glycosaminoglycans (GAG) in lysosomes which affects the functions of many tissues. Glycosaminoglycans 142-145 alpha-L-iduronidase Homo sapiens 38-57 33198351-1 2020 The lysosomal storage disorder, mucopolysaccharidosis I (MPSI), results from mutations in IDUA, the gene that encodes the glycosaminoglycan-degrading enzyme alpha-L-iduronidase. Glycosaminoglycans 122-139 alpha-L-iduronidase Homo sapiens 157-176 32461912-1 2020 Mucopolysaccharidosis type I (MPS I) is an inherited metabolic disorder caused by deficiency of alpha-L-iduronidase (IDUA), resulting in accumulation of heparan and dermatan sulfate glycosaminoglycans (GAGs). Glycosaminoglycans 202-206 alpha-L-iduronidase Homo sapiens 117-121 33073008-1 2020 The glycosaminoglycans (GAGs), dermatan sulfate (DS) and heparan sulfate (HS) are both substrates for alpha-l-iduronidase (IDUA). Glycosaminoglycans 4-22 alpha-L-iduronidase Homo sapiens 123-127 31544795-1 2019 IDUA contributes to the degradation of the glycosaminoglycans, including heparan sulphate and dermatan sulphate. Glycosaminoglycans 43-61 alpha-L-iduronidase Homo sapiens 0-4 31473686-2 2019 Lack or improper amount of the IDUA enzyme results in the improper metabolism of mucopolysaccharides or glycosaminoglycans (GAGs). Glycosaminoglycans 81-100 alpha-L-iduronidase Homo sapiens 31-35 31473686-2 2019 Lack or improper amount of the IDUA enzyme results in the improper metabolism of mucopolysaccharides or glycosaminoglycans (GAGs). Glycosaminoglycans 104-122 alpha-L-iduronidase Homo sapiens 31-35 31544795-2 2019 Deficient activity of IDUA generates accumulation of glycosaminoglycans in lysosomes leading to MPS I. Glycosaminoglycans 53-71 alpha-L-iduronidase Homo sapiens 22-26 27896125-1 2014 Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by mutations in the gene encoding the lysosomal enzyme alpha-l-iduronidase (IDUA), which is instrumental in the hydrolysis of the glycosaminoglycans, dermatan and heparan sulfate. Glycosaminoglycans 212-230 alpha-L-iduronidase Homo sapiens 137-156 30170069-1 2018 Mucopolysaccharidosis type I (MPS I) is a multisystemic disorder caused by the deficiency of alpha-L-iduronidase (IDUA) that leads to intracellular accumulation of glycosaminoglycans (GAG). Glycosaminoglycans 164-182 alpha-L-iduronidase Homo sapiens 93-112 30170069-1 2018 Mucopolysaccharidosis type I (MPS I) is a multisystemic disorder caused by the deficiency of alpha-L-iduronidase (IDUA) that leads to intracellular accumulation of glycosaminoglycans (GAG). Glycosaminoglycans 164-182 alpha-L-iduronidase Homo sapiens 114-118 30170069-1 2018 Mucopolysaccharidosis type I (MPS I) is a multisystemic disorder caused by the deficiency of alpha-L-iduronidase (IDUA) that leads to intracellular accumulation of glycosaminoglycans (GAG). Glycosaminoglycans 184-187 alpha-L-iduronidase Homo sapiens 93-112 30170069-1 2018 Mucopolysaccharidosis type I (MPS I) is a multisystemic disorder caused by the deficiency of alpha-L-iduronidase (IDUA) that leads to intracellular accumulation of glycosaminoglycans (GAG). Glycosaminoglycans 184-187 alpha-L-iduronidase Homo sapiens 114-118 32165899-1 2019 Mucopolysaccharidosis type I (MPS I or Hurler syndrome) is a multisystem genetic disorder caused by alpha-L-iduronidase (IDUA) deficiency, which leads to widespread accumulation of glycosaminoglycans triggering tissue damage and organ dysfunction. Glycosaminoglycans 181-199 alpha-L-iduronidase Homo sapiens 100-119 32165899-1 2019 Mucopolysaccharidosis type I (MPS I or Hurler syndrome) is a multisystem genetic disorder caused by alpha-L-iduronidase (IDUA) deficiency, which leads to widespread accumulation of glycosaminoglycans triggering tissue damage and organ dysfunction. Glycosaminoglycans 181-199 alpha-L-iduronidase Homo sapiens 121-125 25134498-1 2015 Hurler syndrome is a disorder of mucopolysaccharide metabolism caused due to inherited deficiencies of lysosomal alpha-l-iduronidase activity. Glycosaminoglycans 33-51 alpha-L-iduronidase Homo sapiens 113-132 25459762-1 2014 Human alpha-L-iduronidase (IDUA) is a member of glycoside hydrolase family and is involved in the catabolism of glycosaminoglycans (GAGs), heparan sulfate (HS) and dermatan sulfate (DS). Glycosaminoglycans 112-130 alpha-L-iduronidase Homo sapiens 6-25 25459762-1 2014 Human alpha-L-iduronidase (IDUA) is a member of glycoside hydrolase family and is involved in the catabolism of glycosaminoglycans (GAGs), heparan sulfate (HS) and dermatan sulfate (DS). Glycosaminoglycans 112-130 alpha-L-iduronidase Homo sapiens 27-31 27896125-1 2014 Mucopolysaccharidosis type I (MPSI) is a rare autosomal recessive disorder caused by mutations in the gene encoding the lysosomal enzyme alpha-l-iduronidase (IDUA), which is instrumental in the hydrolysis of the glycosaminoglycans, dermatan and heparan sulfate. Glycosaminoglycans 212-230 alpha-L-iduronidase Homo sapiens 158-162 25267637-1 2014 Patients with mucopolysaccharidosis type I (MPS I), a genetic deficiency of the lysosomal enzyme alpha-l-iduronidase (IDUA), exhibit accumulation of glycosaminoglycans in tissues, with resulting diverse clinical manifestations including neurological, ocular, skeletal, and cardiac disease. Glycosaminoglycans 149-167 alpha-L-iduronidase Homo sapiens 97-116 25267637-1 2014 Patients with mucopolysaccharidosis type I (MPS I), a genetic deficiency of the lysosomal enzyme alpha-l-iduronidase (IDUA), exhibit accumulation of glycosaminoglycans in tissues, with resulting diverse clinical manifestations including neurological, ocular, skeletal, and cardiac disease. Glycosaminoglycans 149-167 alpha-L-iduronidase Homo sapiens 118-122 24411223-4 2014 alpha-L-iduronidase participates in glycosaminoglycan (GAG) catabolism and its insufficiency causes progressive GAG accumulation and onset of the MPS I-H phenotype, which consists of multiple somatic and neurological defects. Glycosaminoglycans 55-58 alpha-L-iduronidase Homo sapiens 0-19 24411223-6 2014 We previously showed that 2-week treatment with the designer aminoglycoside NB84 restored enough alpha-L-iduronidase function via PTC suppression to reduce tissue GAG accumulation in the Idua(tm1Kmke) MPS I-H mouse model, which carries a PTC homologous to the human IDUA-W402X nonsense mutation. Glycosaminoglycans 163-166 alpha-L-iduronidase Homo sapiens 187-191 23917744-1 2013 Mucopolysaccharidosis type-I is caused by a deficiency of the lysosomal enzyme alpha-L-iduronidase, resulting in gradual deposition of glycosaminoglycans in multiple body organs, affecting physical appearance and system functioning. Glycosaminoglycans 135-153 alpha-L-iduronidase Homo sapiens 79-98 22402327-1 2012 Previous work shows that MPS I dogs receiving enzyme replacement with recombinant human alpha-l-iduronidase into the cisterna magna showed normal brain glycosaminoglycan (GAG) storage after three or four doses. Glycosaminoglycans 152-169 alpha-L-iduronidase Homo sapiens 88-107 21749451-1 2011 Intrathecal (IT) recombinant human alpha-l-iduronidase (rhIDU) has been shown to reduce mean brain glycosaminoglycans (GAGs) to normal levels in mucopolysaccharidosis I (MPS I) dogs. Glycosaminoglycans 99-117 alpha-L-iduronidase Homo sapiens 35-54 22030348-1 2011 Mucopolysaccharidosis I (MPS I) is a lysosomal storage disease due to an alpha-L-iduronidase deficiency, which leads to an accumulation of glycosaminoglycans in the lysosomes of most cells, resulting in tissue and organ dysfunction. Glycosaminoglycans 139-157 alpha-L-iduronidase Homo sapiens 73-92 21749451-1 2011 Intrathecal (IT) recombinant human alpha-l-iduronidase (rhIDU) has been shown to reduce mean brain glycosaminoglycans (GAGs) to normal levels in mucopolysaccharidosis I (MPS I) dogs. Glycosaminoglycans 119-123 alpha-L-iduronidase Homo sapiens 35-54 17044753-1 2006 Mucopolysaccharidosis type I (MPS I) due to deficient alpha-L-iduronidase (IDUA) activity results in the accumulation of glycosaminoglycans (GAGs) in many of the cells of affected patients. Glycosaminoglycans 121-139 alpha-L-iduronidase Homo sapiens 54-73 21624210-3 2011 The deficiency of IDUA leads to widespread accumulation of partially degraded mucopolysaccharides inside lysosomes, resulting in progressive cellular and multiorgan dysfunction. Glycosaminoglycans 78-97 alpha-L-iduronidase Homo sapiens 18-22 21037085-1 2011 Mucopolysaccharidosis type I (MPS IH; Hurler syndrome) is a congenital deficiency of alpha-L-iduronidase, leading to lysosomal storage of glycosaminoglycans that is ultimately fatal following an insidious onset after birth. Glycosaminoglycans 138-156 alpha-L-iduronidase Homo sapiens 85-104 21786328-1 2011 BACKGROUND: Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the alpha-L-iduronidase (IDUA), which leads to the accumulation of glycosaminoglycans in lysosomes. Glycosaminoglycans 145-163 alpha-L-iduronidase Homo sapiens 82-101 21786328-1 2011 BACKGROUND: Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the alpha-L-iduronidase (IDUA), which leads to the accumulation of glycosaminoglycans in lysosomes. Glycosaminoglycans 145-163 alpha-L-iduronidase Homo sapiens 103-107 20455661-1 2010 In mucopolysaccharidosis type I (MPS I; alpha-L-iduronidase deficiency), glycosaminoglycans (GAGs) accumulate in different cell types, causing characteristic vacuolization. Glycosaminoglycans 73-91 alpha-L-iduronidase Homo sapiens 40-59 20455661-1 2010 In mucopolysaccharidosis type I (MPS I; alpha-L-iduronidase deficiency), glycosaminoglycans (GAGs) accumulate in different cell types, causing characteristic vacuolization. Glycosaminoglycans 93-97 alpha-L-iduronidase Homo sapiens 40-59 17044753-1 2006 Mucopolysaccharidosis type I (MPS I) due to deficient alpha-L-iduronidase (IDUA) activity results in the accumulation of glycosaminoglycans (GAGs) in many of the cells of affected patients. Glycosaminoglycans 141-145 alpha-L-iduronidase Homo sapiens 54-73 16718701-1 2006 OBJECTIVE: A defect of the lysosomal enzyme alpha-L-iduronidase (IDUA) interrupts the degradation of glycosaminoglycans in mucopolysaccharidosis type I, causing severe neurological manifestations in children with Hurler"s syndrome. Glycosaminoglycans 101-119 alpha-L-iduronidase Homo sapiens 44-63 16718701-1 2006 OBJECTIVE: A defect of the lysosomal enzyme alpha-L-iduronidase (IDUA) interrupts the degradation of glycosaminoglycans in mucopolysaccharidosis type I, causing severe neurological manifestations in children with Hurler"s syndrome. Glycosaminoglycans 101-119 alpha-L-iduronidase Homo sapiens 65-69 15947088-1 2005 In mucopolysaccharidosis-I (MPS-I), alpha-L-iduronidase deficiency leads to progressive heparan sulfate (HS) and dermatan sulfate (DS) glycosaminoglycan (GAG) accumulation. Glycosaminoglycans 135-152 alpha-L-iduronidase Homo sapiens 36-55 15947088-1 2005 In mucopolysaccharidosis-I (MPS-I), alpha-L-iduronidase deficiency leads to progressive heparan sulfate (HS) and dermatan sulfate (DS) glycosaminoglycan (GAG) accumulation. Glycosaminoglycans 154-157 alpha-L-iduronidase Homo sapiens 36-55 16435198-2 2005 The deficiency of alpha-L-iduronidase (EC 1.2.3.76), one of the enzymes responsible for the degradation of glycosaminoglycans, results in accumulation of heparan and dermatan sulphate in these patients. Glycosaminoglycans 107-125 alpha-L-iduronidase Homo sapiens 18-37 14718373-2 2004 In a lysosomal storage disorder known as mucopolysaccharidosis I, caused by a deficiency of the exohydrolase alpha-l-iduronidase, fragments of two different glycosaminoglycans, dermatan sulfate and heparan sulfate, have been shown to accumulate. Glycosaminoglycans 157-175 alpha-L-iduronidase Homo sapiens 109-128 15081804-2 2004 A deficiency in alpha-L-iduronidase results in the lysosomal accumulation and urinary secretion of partially degraded glycosaminoglycans and is the cause of the lysosomal storage disorder mucopolysaccharidosis type I (MPS I; Hurler and Scheie syndromes; McKusick 25280). Glycosaminoglycans 118-136 alpha-L-iduronidase Homo sapiens 16-35 8554071-9 1996 Notably, a new IDUA mutation A300T was also identified in the proband, his sister, and his mother, accounting for reduced IDUA activity in these individuals; the asymptomatic sister, whose cells demonstrated normal glycosaminoglycan metabolism, is thus a compound heterozygote for W402X and the new allele. Glycosaminoglycans 215-232 alpha-L-iduronidase Homo sapiens 15-19 11159948-1 2001 Hurler syndrome is the most severe form of a lysosomal storage disease caused by loss of the enzyme alpha-L-iduronidase (encoded by the IDUA gene), which participates in the degradation of glycosaminoglycans (GAGs) within the lysosome. Glycosaminoglycans 189-207 alpha-L-iduronidase Homo sapiens 136-140 9425437-1 1997 Hurler syndrome (mucopolysaccharidosis IH or MPS IH) is a congenital mucopolysaccharide storage disorder resulting from a genetic deficiency of alpha-L-iduronidase (IDUA), which is required for lysosomal degradation of glycosaminoglycans heparan sulfate and dermatan sulfate. Glycosaminoglycans 219-237 alpha-L-iduronidase Homo sapiens 144-163 9425437-1 1997 Hurler syndrome (mucopolysaccharidosis IH or MPS IH) is a congenital mucopolysaccharide storage disorder resulting from a genetic deficiency of alpha-L-iduronidase (IDUA), which is required for lysosomal degradation of glycosaminoglycans heparan sulfate and dermatan sulfate. Glycosaminoglycans 219-237 alpha-L-iduronidase Homo sapiens 165-169 1525210-9 1992 Surprisingly, increasing over-expression of IDUA resulted in reduced phenotypic correction of these cells as assayed by intracellular accumulation of 35S-labeled glycosaminoglycan. Glycosaminoglycans 162-179 alpha-L-iduronidase Homo sapiens 44-48 8664897-1 1996 alpha-L-Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I; MPS-I) is an inborn error of lysosomal degradation of glycosaminoglycans that results in storage of undegraded glycosaminoglycans in lysosomes. Glycosaminoglycans 123-141 alpha-L-iduronidase Homo sapiens 0-19 8664897-1 1996 alpha-L-Iduronidase (IDUA) deficiency (mucopolysaccharidosis type I; MPS-I) is an inborn error of lysosomal degradation of glycosaminoglycans that results in storage of undegraded glycosaminoglycans in lysosomes. Glycosaminoglycans 123-141 alpha-L-iduronidase Homo sapiens 21-25 8680403-2 1995 These mutations lead to a deficiency of the glycosidase alpha-L-iduronidase (IDUA), which is required for the degradation of heparan sulphate and dermatan sulphate and thus the storage of these glycosaminoglycans in the lysosome. Glycosaminoglycans 194-212 alpha-L-iduronidase Homo sapiens 56-75 8680403-2 1995 These mutations lead to a deficiency of the glycosidase alpha-L-iduronidase (IDUA), which is required for the degradation of heparan sulphate and dermatan sulphate and thus the storage of these glycosaminoglycans in the lysosome. Glycosaminoglycans 194-212 alpha-L-iduronidase Homo sapiens 77-81 1505961-1 1992 In humans, a deficiency of the lysosomal hydrolase alpha-L-iduronidase (IDUA;EC 3.2.1.76) results in the lysosomal storage of the glycosaminoglycans heparan sulfate and dermatan sulfate, thereby causing the lysosomal storage disorder mucopolysaccharidosis type I. Glycosaminoglycans 130-148 alpha-L-iduronidase Homo sapiens 51-70 1505961-1 1992 In humans, a deficiency of the lysosomal hydrolase alpha-L-iduronidase (IDUA;EC 3.2.1.76) results in the lysosomal storage of the glycosaminoglycans heparan sulfate and dermatan sulfate, thereby causing the lysosomal storage disorder mucopolysaccharidosis type I. Glycosaminoglycans 130-148 alpha-L-iduronidase Homo sapiens 72-76 1550122-1 1992 alpha-L-Iduronidase activity is deficient in mucopolysaccharidosis type I (MPS I; Hurler syndrome, Scheie syndrome) patients and results in the disruption of the sequential degradation of the glycosaminoglycans dermatan sulfate and heparan sulfate. Glycosaminoglycans 192-210 alpha-L-iduronidase Homo sapiens 0-19 1301196-1 1992 Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive genetic disease caused by a deficiency of the glycosidase alpha-L-iduronidase which is required for the lysosomal degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. Glycosaminoglycans 196-214 alpha-L-iduronidase Homo sapiens 121-140 1301941-1 1992 Mucopolysaccharidosis type I (MPS-I) is an autosomal recessive genetic disease caused by a deficiency of the glycosidase alpha-L-iduronidase which is required for the lysosomal degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. Glycosaminoglycans 196-214 alpha-L-iduronidase Homo sapiens 121-140 1946389-1 1991 alpha-L-Iduronidase (IDUA; EC 3.2.1.76) is a lysosomal hydrolase in the metabolic pathway responsible for the degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. Glycosaminoglycans 129-147 alpha-L-iduronidase Homo sapiens 0-19 1946389-1 1991 alpha-L-Iduronidase (IDUA; EC 3.2.1.76) is a lysosomal hydrolase in the metabolic pathway responsible for the degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. Glycosaminoglycans 129-147 alpha-L-iduronidase Homo sapiens 21-25 1946389-2 1991 A deficiency of IDUA in humans leads to the accumulation of these glycosaminoglycans and results in the lysosomal storage disorder mucopolysaccharidosis type I. Glycosaminoglycans 66-84 alpha-L-iduronidase Homo sapiens 16-20 2220820-1 1990 The lysosomal hydrolase alpha-L-iduronidase (IDUA) is one of the enzymes in the metabolic pathway responsible for the degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. Glycosaminoglycans 137-155 alpha-L-iduronidase Homo sapiens 24-43 2220820-1 1990 The lysosomal hydrolase alpha-L-iduronidase (IDUA) is one of the enzymes in the metabolic pathway responsible for the degradation of the glycosaminoglycans heparan sulfate and dermatan sulfate. Glycosaminoglycans 137-155 alpha-L-iduronidase Homo sapiens 45-49 2220820-2 1990 In humans a deficiency of IDUA leads to the accumulation of glycosaminoglycans, resulting in the lysosomal storage disorder mucopolysaccharidosis type I. Glycosaminoglycans 60-78 alpha-L-iduronidase Homo sapiens 26-30