NA00879
DNA from Fibroblast
Description:
MUCOPOLYSACCHARIDOSIS TYPE IIIA
N-SULFOGLUCOSAMINE SULFOHYDROLASE; SGSH
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Repository
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NIGMS Human Genetic Cell Repository
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| Subcollection |
Heritable Diseases
Lysosomal Storage Diseases |
| Class |
Disorders of Carbohydrate Metabolism |
| Quantity |
10 µg |
| Quantitation Method |
Please see our FAQ |
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Cell Type
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Fibroblast
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Transformant
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Untransformed
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Sample Source
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DNA from Fibroblast
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Race
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White
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Family Member
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1
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Relation to Proband
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proband
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Confirmation
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Clinical summary/Case history
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Species
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Homo sapiens
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Common Name
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Human
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Remarks
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| PDL at Freeze |
5.89 |
| Passage Frozen |
10 |
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| N-sulfoglucosamine sulfohydrolase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.10.1.1 |
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| Gene |
SGSH |
| Chromosomal Location |
17q25.3 |
| Allelic Variant 1 |
605270.0006; SANFILIPPO SYNDROME A |
| Identified Mutation |
GLU447LYS; In a patient with Sanfilippo syndrome A (252900), Blanch et al. (1997) found a G-to-A transition at nucleotide 1351 of the SGSH gene, which resulted in a glu447-to-lys (E447K) amino acid substitution. They found this mutation in compound heterozygosity with the R245H mutation (605270.0001). |
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| Gene |
SGSH |
| Chromosomal Location |
17q25.3 |
| Allelic Variant 2 |
605270.0001; SANFILIPPO SYNDROME A |
| Identified Mutation |
ARG245HIS; A G-to-A transition at nucleotide position 746 of the sulfamidase gene is responsible for the missense mutation which changes arginine-245 to a histidine (R245H). |
| Remarks |
Deficient heparan sulfate sulfatase; donor subject is a compound heterozygote; one allele carries a missense mutation (G>A) at nucleotide 1351 (1351G>A) in the SGSH gene [Glu447Lys (E447K)]; the other carries a G>A transition at nucleotide 746(746G>A) [Arg245His ( R245H)] |
| Karolina Wiśniewska, Estera Rintz, Magdalena Żabińska, Lidia Gaffke, Magdalena Podlacha, Zuzanna Cyske, Grzegorz Węgrzyn, Karolina Pierzynowska, Comprehensive evaluation of pathogenic protein accumulation in fibroblasts from all subtypes of Sanfilippo disease patients
Biochemical and Biophysical Research Communications733: 2024 |
| PubMed ID: 39305572 |
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| Wisniewska K, Gaffke L, Zabinska M, Wegrzyn G, Pierzynowska K, Cellular Organelle-Related Transcriptomic Profile Abnormalities in Neuronopathic Types of Mucopolysaccharidosis: A Comparison with Other Neurodegenerative Diseases Current issues in molecular biology46:2678-2700 2024 |
| PubMed ID: 38534785 |
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| Gaffke L, Pierzynowska K, Cyske Z, Podlacha M, Wegrzyn G, Contribution of vesicle trafficking dysregulation to the pathomechanism of mucopolysaccharidosis Biochemical and biophysical research communications665:107-117 2023 |
| PubMed ID: 37149983 |
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| Zabinska M, Gaffke L, Bielanska P, Podlacha M, Rintz E, Cyske Z, Wegrzyn G, Pierzynowska K, Decreased Levels of Chaperones in Mucopolysaccharidoses and Their Elevation as a Putative Auxiliary Therapeutic Approach Pharmaceutics15:107-117 2023 |
| PubMed ID: 36840025 |
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| Cyske Z, Gaffke L, Pierzynowska K, Wegrzyn G, Complex Changes in the Efficiency of the Expression of Many Genes in Monogenic Diseases, Mucopolysaccharidoses, May Arise from Significant Disturbances in the Levels of Factors Involved in the Gene Expression Regulation Processes Genes13:107-117 2022 |
| PubMed ID: 35456399 |
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| Rintz E, Podlacha M, Cyske Z, Pierzynowska K, Wegrzyn G, Gaffke L, Activities of (Poly)phenolic Antioxidants and Other Natural Autophagy Modulators in the Treatment of Sanfilippo Disease: Remarkable Efficacy of Resveratrol in Cellular and Animal Models Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics13:107-117 2022 |
| PubMed ID: 36344724 |
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| Gaffke L, Szczudlo Z, Podlacha M, Cyske Z, Rintz E, Mantej J, Krzelowska K, Wegrzyn G, Pierzynowska K, Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies Metabolic brain disease37:299-310 2021 |
| PubMed ID: 34928474 |
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| Pierzynowska K, Zabinska M, Gaffke L, Cyske Z, Wegrzyn G, Changes in expression of signal transduction-related genes, and formation of aggregates of GPER1 and OXTR receptors in mucopolysaccharidosis cells European journal of cell biology101:151232 2021 |
| PubMed ID: 35537249 |
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| Wisniewska K, Gaffke L, Krzelowska K, Wegrzyn G, Pierzynowska K, Differences in gene expression patterns, revealed by RNA-seq analysis, between various Sanfilippo and Morquio disease subtypes Gene812:146090 2021 |
| PubMed ID: 34896230 |
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| Gaffke L, Pierzynowska K, Krzelowska K, Piotrowska E, Wegrzyn G, Changes in expressions of genes involved in the regulation of cellular processes in mucopolysaccharidoses as assessed by fibroblast culture-based transcriptomic analyses Metabolic brain disease812:146090 2020 |
| PubMed ID: 32886284 |
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| Gaffke L, Pierzynowska K, Rintz E, Cyske Z, Giecewicz I, Wegrzyn G, Gene Expression-Related Changes in Morphologies of Organelles and Cellular Component Organization in Mucopolysaccharidoses International journal of molecular sciences22:146090 2020 |
| PubMed ID: 33803318 |
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| Brokowska J, Pierzynowska K, Gaffke L, Rintz E, Wegrzyn G, Expression of genes involved in apoptosis is dysregulated in mucopolysaccharidoses as revealed by pilot transcriptomic analyses Cell biology international22:146090 2019 |
| PubMed ID: 32125037 |
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| Gaffke L, Pierzynowska K, Podlacha M, Hoinkis D, Rintz E, Brokowska J, Cyske Z, Wegrzyn G, Underestimated Aspect of Mucopolysaccharidosis Pathogenesis: Global Changes in Cellular Processes Revealed by Transcriptomic Studies International journal of molecular sciences21:146090 2019 |
| PubMed ID: 32054071 |
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| Gustavsson S, Ohlin Sjöström E, Tjernberg A, Janson J, Westermark U, Andersson T, Makower Å, Arnelöf E, Andersson G, Svartengren J, Ekholm C, Svensson Gelius S, Intravenous delivery of a chemically modified sulfamidase efficiently reduces heparan sulfate storage and brain pathology in mucopolysaccharidosis IIIA mice Molecular genetics and metabolism reports21:100510 2019 |
| PubMed ID: 31528541 |
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| Pierzynowska K, Gaffke L, Podlacha M, Wegrzyn G, Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies International journal of molecular sciences21:100510 2019 |
| PubMed ID: 32050523 |
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| Vallejo S, Fleischer A, Martín JM, Sánchez A, Palomino E, Bachiller D, Generation of two induced pluripotent stem cells lines from Mucopolysaccharydosis IIIA patient: IMEDEAi004-A and IMEDEAi004-B Stem Cell Research32:110-114 2018 |
| PubMed ID: 30269021 |
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| Blanch L, Weber B, Guo XH, Scott HS, Hopwood JJ, Molecular defects in Sanfilippo syndrome type A. Hum Mol Genet6:787-91 1997 |
| PubMed ID: 9158154 |
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| Weber B, Guo XH, Wraith JE, Cooper A, Kleijer WJ, Bunge S, Hopwood JJ, Novel mutations in Sanfilippo A syndrome: implications for enzyme function. Hum Mol Genet6:1573-1579 1997 |
| PubMed ID: 9285796 |
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