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TranscriptomicsTranscription profiling of normal and Mucopolysaccharidosis type VI rat fibroblast-like synoviocytes
Gene expression in 9 month-old Mucopolysaccharidosis type VI rat fibroblast-like synoviocytes (FLS) were compared to age-matched normal rat FLS
ORGANISM(S): Rattus norvegicus 
2007-10-24 | E-TABM-306 | biostudies-arrayexpress
TranscriptomicsMicroarray analysis of Normal and MPS VII mouse aorta
Mucopolysaccharidosis VII (MPS VII) is due to mutations within the gene encoding the lysosomal enzyme beta-glucuronidase, and results in the accumulation of glycosaminoglycans. MPS VII causes aortic dilatation and elastin fragmentation. In this study we performed microarray analysis of ascending ao...
ORGANISM(S): Mus musculus 
2011-10-09 | E-GEOD-30657 | biostudies-arrayexpress
ProteomicsProteomic analysis of mucopolysaccharidosis IIIB mouse brain
Mucopolysaccharidosis IIIB (MPS IIIB) is an inherited metabolic disease due to deficiency of α-N-Acetylglucosaminidase (NAGLU) enzyme with subsequent storage of undegradedheparan sulfate (HS). The main clinical manifestations of the disease are profound intellectual disability and neurodegene...
ORGANISM(S): Mus musculus (Mouse) 
2020-02-26 | PXD017363 | Pride
Mucopolysaccharidosis iiib  quantitative proteomics  naglu  lysosomes 
GenomicsA Drosophila model of mucopolysaccharidosis IIIB
A Drosophila model of mucopolysaccharidosis IIIB
PRJNA1119989 | ENA
ProteomicsProteomic Screening Identifies Novel Biomarkers and Mechanisms of Synovial Joint Disease in a Canine Model of Mucopolysaccharidosis I
Mucopolysaccharidosis I is a lysosomal storage disorder characterized by deficient alpha-L-iduronidase activity, leading to abnormal accumulation of glycosaminoglycans in cells and tissues. Synovial joint disease is prevalent and significantly reduces patient quality of life. There is a critical nee...
ORGANISM(S): Canis familiaris (Dog) (Canis lupus familiaris) 
2024-05-22 | PXD037130 | Pride
Canine model Mucopolysaccharidosis Synovial fluid Serum Synovial joint disease 
TranscriptomicsLCM-based microarray analysis of neuronal vulnerability in the mouse model of Sanfilippo syndrome (MPSIIIB)
Sanfilippo syndrome type B (MPS III B) is an autosomal recessive, neurodegenerative disease of children, characterized by profound mental retardation and dementia. The primary cause is mutation in the NAGLU gene, resulting in deficiency of N-acetylglucosaminidase and lysosomal accumulation of hepara...
ORGANISM(S): Mus musculus 
2009-04-22 | E-GEOD-15758 | biostudies-arrayexpress
UnknownData from subjects receiving intrathecal laronidase for cervical spinal stenosis due to mucopolysaccharidosis type I.
Not available
S-EPMC4573094 | biostudies-literature
TranscriptomicsEstablishment of patient-derived bone organoids to recapitulate and dissect Hurler syndrome's skeletal disease
Mucopolysaccharidosis type I is a disease caused by the mutation of the IDUA gene, encoding the alpha-L-Iduronidase enzyme. Accumulation of glycosamminoglycans (GAGs) due to IDUA deficiency results in a complex skeletal phenotype referred to as dysostosis multiplex. The cellular and molecular pathog...
ORGANISM(S): Homo sapiens 
2024-06-24 | E-MTAB-13129 | biostudies-arrayexpress
GenomicsMolecular Profiling of Failed Endochondral Ossification in Mucopolysaccharidosis VII
Molecular Profiling of Failed Endochondral Ossification in Mucopolysaccharidosis VII
PRJNA533818 | ENA
TranscriptomicsA Drosophila model of mucopolysaccharidosis IIIB
Mucopolysaccharidosis IIIB (MPS IIIB) is a rare genetic disorder caused by defects in α-N-acetylglucosaminidase, which breaks down extracellular heparan sulfate. Symptoms progress from hyperactivity and sleep disruptions during childhood to severe neurodegeneration during adolescence. To generate an...
ORGANISM(S): Drosophila melanogaster 
2025-03-26 | GSE269032 | GEO
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