NA05093
DNA from Fibroblast
Description:
MUCOPOLYSACCHARIDOSIS TYPE IIID
N-ACETYLGLUCOSAMINE-6-SULFATE; GNS
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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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Asiatic Indian
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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 |
5.82 |
| Passage Frozen |
7 |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by Nucleoside Phosphorylase, Glucose-6-Phosphate Dehydrogenase, and Lactate Dehydrogenase Isoenzyme Electrophoresis and by Chromosome Analysis |
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| Gene |
GNS |
| Chromosomal Location |
12q14 |
| Allelic Variant 1 |
607664.0001; MUCOPOLYSACCHARIDOSIS TYPE IIID |
| Identified Mutation |
ARG355TER |
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| Gene |
GNS |
| Chromosomal Location |
12q14 |
| Allelic Variant 2 |
607664.0001; MUCOPOLYSACCHARIDOSIS TYPE IIID |
| Identified Mutation |
ARG355TER |
| Remarks |
Mentally retarded & characteristic behavioral disturbances; excessive secretion of heparan sulfate & inability to release inorganic sulfate from N-acetylglucosamine-6-sulfate residues of heparan sulfate-derived oligosaccharides; donor subject is homozygous for a C>T transition at nucleotide 1063 in exon 9 of the GNS gene (1063C>T) resulting in the substitution of a termination signal for arginine at codon 355 [ Arg355Ter (R355X)] |
| 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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| Wang F, Moen DR, Sauni C, Kan SH, Li S, Le SQ, Lomenick B, Zhang X, Ekins S, Singamsetty S, Wood J, Dickson PI, Chou TF, Enzyme Replacement Therapy for Mucopolysaccharidosis IIID using Recombinant Human a- Molecular pharmaceutics18:214-227 2020 |
| PubMed ID: 33320673 |
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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 international18:214-227 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 sciences21:214-227 2019 |
| PubMed ID: 32054071 |
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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 sciences21:214-227 2019 |
| PubMed ID: 32050523 |
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| Mok A, Cao H, Hegele RA, Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase. Genomics81(1):1-5 2003 |
| PubMed ID: 12573255 |
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| Kresse H, Paschke E, von Figura K, Gilberg W, Fuchs W, Sanfilippo disease type D: deficiency of N-acetylglucosamine-6-sulfate sulfatase required for heparan sulfate degradation. Proc Natl Acad Sci U S A77:6822-6 1980 |
| PubMed ID: 6450420 |
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