A model of mucopolysaccharidosis type IIIB in pigs
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چکیده
منابع مشابه
Once in a Blue Moon, a Very Rare Coexistence of Glutaric Acidemia Type I and Mucopolysaccharidosis Type IIIB in a Patient
Background: GAI and MPSIIIB are two rare genetic disorders caused by pathogenic variants in two different genes. Here, we report a coexistence of these two different rare disorders in an individual. Methods: A four-year-old Iranian boy born to first-cousin parents suspected to have MPSIIIB and/or GAI was investigated in this study. Targeted genomic enrichment and NGS were used to examine genes ...
متن کاملThe neurobehavioral phenotype in mucopolysaccharidosis Type IIIB: An exploratory study
OBJECTIVES Our goal was to describe the neurobehavioral phenotype in mucopolysaccharidosis Type IIIB (MPS IIIB). Parents report that behavioral abnormalities are a major problem in MPS III posing serious challenges to parenting and quality-of-life for both patient and parent. Our previous research on MPS IIIA identified autistic symptoms, and a Klüver-Bucy-type syndrome as indicated by reduced ...
متن کاملTreatment of the mouse model of mucopolysaccharidosis type IIIB with lentiviral-NAGLU vector.
The Sanfilippo syndrome type B (mucopolysaccharidosis IIIB) is an autosomal recessive disorder due to mutations in the gene encoding NAGLU (alpha-N-acetylglucosaminidase), one of the enzymes required for the degradation of the GAG (glycosaminoglycan) heparan sulphate. No therapy exists for affected patients. We have shown previously the efficacy of lentiviral-NAGLU-mediated gene transfer in cor...
متن کاملElectrophysiological and Histological Characterization of Rod-Cone Retinal Degeneration and Microglia Activation in a Mouse Model of Mucopolysaccharidosis Type IIIB
Sanfilippo syndrome Type B or Mucopolysaccharidosis IIIB (MPS IIIB) is a neurodegenerative autosomal recessive lysosomal storage disorder in which patients suffer severe vision loss from associated retinopathy. Here we sought to study the underlying retinal functional and morphological changes associated with MPS IIIB disease progression using the established model of MPS IIIB, the B6.129S6-Nag...
متن کاملIdentification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).
Sanfilippo syndrome type B or mucopolysaccharidosis type IIIB (MPS IIIB) is an autosomal recessive disorder caused by deficiency of the lysosomal enzyme α-Nacetylglucosaminidase (NAG, EC 3.2.1.50). NAG catalyses the removal of terminal α-N-acetylglucosamine residues from heparan sulphate. In the absence of NAG, partially degraded heparan sulphate accumulates in tissues and is excreted in the ur...
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ژورنال
عنوان ژورنال: Biology Open
سال: 2018
ISSN: 2046-6390
DOI: 10.1242/bio.035386