Description:
MUCOPOLYSACCHARIDOSIS TYPE IVA
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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 |
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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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Race
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White
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Ethnicity
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MEXICAN
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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 |
5 |
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| N-acetylgalactosamine-6-sulfatase |
According to the submitter, biochemical test results for this subject showed decreased enzyme activity. EC Number: 3.1.6.4; <1% activity. |
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| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin Confirmed by LINE assay |
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| Remarks |
Less than 1% of normal N-acetylgalactosamine 6-sulfate sulfatase; normal B-galactosidase and B-glucuronidase activity |
| 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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| Leal AF, Alméciga-Díaz CJ, Efficient CRISPR/Cas9 nickase-mediated genome editing in an in vitro model of mucopolysaccharidosis IVA Gene therapy13:107-117 2022 |
| PubMed ID: 35581402 |
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| Leal AF, Cifuentes J, Torres CE, Suárez D, Quezada V, Gómez SC, Cruz JC, Reyes LH, Espejo-Mojica AJ, Alméciga-Díaz CJ, Delivery and assessment of a CRISPR/nCas9-based genome editing system on in vitro models of mucopolysaccharidoses IVA assisted by magnetite-based nanoparticles Scientific Reports12:107-117 2022 |
| PubMed ID: 36057729 |
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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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| Puentes-Tellez MA, Sánchez OF, Rojas-Rodriguez F, Benincore-Flórez E, Barbosa H, Alméciga Díaz CJ, Evaluation of HIV-1 derived lentiviral vectors as transductors of Mucopolysaccharidosis type IV a fibroblasts Gene780:145527 2020 |
| PubMed ID: 33636292 |
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| Alméciga-Diaz CJ, Hidalgo OA, Olarte-Avellaneda S, Rodríguez-López A, Guzman E, Garzón R, Pimentel-Vera LN, Puentes-Tellez MA, Rojas-Rodriguez AF, Gorshkov K, Li R, Zheng W, Identification of Ezetimibe and Pranlukast as Pharmacological Chaperones for the Treatment of the Rare Disease Mucopolysaccharidosis Type IVA Journal of medicinal chemistry62:6175-6189 2019 |
| PubMed ID: 31188588 |
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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 international62:6175-6189 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 sciences21:6175-6189 2019 |
| PubMed ID: 32054071 |
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| Lawrence R, Prill H, Vachali PP, Adintori EG, de Hart G, Wang RY, Burton BK, Pasquali M, Crawford BE, Characterization of disease-specific chondroitin sulfate non-reducing end accumulation in mucopolysaccharidosis IVA Glycobiology21:6175-6189 2019 |
| PubMed ID: 31897472 |
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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 sciences21:6175-6189 2019 |
| PubMed ID: 32050523 |
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| Pshezhetsky AV, Potier M, Association of N-acetylgalactosamine-6-sulfate sulfatase with the multienzyme lysosomal complex of beta-galactosidase, cathepsin A, and neuraminidase. Possible implication for intralysosomal catabolism of keratan sulfate. J Biol Chem271:28359-65 1996 |
| PubMed ID: 8910459 |
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| Singh J, Di Ferrante N, Niebes P, Tavella D, N-acetylgalactosamine-6-sulfate sulfatase in man. Absence of the enzyme in Morquio disease. J Clin Invest57:1036-40 1976 |
| PubMed ID: 820716 |
| Passage Frozen |
5 |
| Split Ratio |
1:3 |
| Temperature |
37 C |
| Percent CO2 |
5% |
| Percent O2 |
AMBIENT |
| Medium |
Eagle's Minimum Essential Medium with Earle's salts and non-essential amino acids with 2mM L-glutamine or equivalent |
| Serum |
15% fetal bovine serum Not inactivated |
| Substrate |
None specified |
| Supplement |
- |
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