Regular ArticleExpression and Characterization of Human Recombinant and α-N-Actylglucosaminidase
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Cited by (34)
Brain transplantation of genetically corrected Sanfilippo type B neural stem cells induces partial cross-correction of the disease
2022, Molecular Therapy Methods and Clinical DevelopmentCitation Excerpt :To date, intra-cerebroventricular (ICV) enzyme replacement therapy (ERT),9 gene therapy,10 hematopoietic stem cell gene therapy,11 and substrate reduction12 have all been explored in preclinical studies as potential treatments for this disease. Although systemic ERT has shown promise in promoting functional recovery in MPS subtypes known to induce moderate neurological impairment (MPS I,13 II,14 IVA,15 and VII16), it poorly impacted both neurological deficit and cellular uptake in Sanfilippo type B17 because the recombinant human NAGLU (rhNAGLU) does not cross the blood-brain barrier.18 Currently, there is one ERT-based clinical trial (NCT03784287) testing the effect of the ICV implantation of an infusion port for direct delivery of the NAGLU enzyme to the brain.
Blood-brain barrier delivery for lysosomal storage disorders with IgG-lysosomal enzyme fusion proteins
2022, Advanced Drug Delivery ReviewsCitation Excerpt :M6P is incorporated in nearly all of the lysosomal enzymes, including IDUA, IDS, ASA, SGSH, PPT1, GLB1, ASM, and HEXA [4]. Although NAGLU is predicted to incorporate M6P [4], the M6P content of this enzyme is very low [192,193]. Despite the lack of M6P incorporation into NAGLU, this enzyme is still rapidly cleared from plasma following IV administration in the mouse [194].
Biosynthesis and Degradation of Glycans of the Extracellular Matrix: Sulfated Glycosaminoglycans, Hyaluronan, and Matriglycan
2021, Comprehensive Glycoscience: Second EditionBiochemical evaluation of intracerebroventricular rhNAGLU-IGF2 enzyme replacement therapy in neonatal mice with Sanfilippo B syndrome
2021, Molecular Genetics and MetabolismUpdate of treatment for mucopolysaccharidosis type III (sanfilippo syndrome)
2020, European Journal of PharmacologyCitation Excerpt :Positive results gave manufacture confidence to set up clinical trials for testing SOBI003 as a potential treatment for MPS IIIA patients (NCT03423186 & NCT03811028). Chinese hamster ovary cells or a human cell line could not generate recombinant human alpha-N-acetylglucosaminidase (rhNAGLU) with mannose 6-phosphate during post-translational processing, so rhNAGLU for MPS IIIB patients is limited by inadequate cellular delivery (Weber et al., 2001; Zhao and Neufeld, 2000). BMN 250 is a fusion protein, consisting of human NAGLU fused with insulin-like growth factor 2 (IGF2), which was expressed in Chinese hamster ovary cells (Fig. 1B) (Aoyagi-Scharber et al., 2017).
Lysosomal N-acetyltransferase interacts with ALIX and is detected in extracellular vesicles
2018, Biochimica et Biophysica Acta - Molecular Cell ResearchCitation Excerpt :Not only could this provide a point of interaction between NAGLU and ALIX, but also raises the tantalising prospect of an association between HGSNAT and NAGLU via ALIX, a co-localisation which would provide a kinetic advantage for the HS hydrolysis, and its mediation of exosome biogenesis. Furthermore, both the mannose 6-phosphorylation of NAGLU, and its mannose 6-phosphate-mediated transport, have been reported to be relatively inefficient, so an HGSNAT/NAGLU containing complex may contribute to extracellular transport of NAGLU [54]. A problem for MPS IIIC, and indeed all disorders caused by deficiencies of insoluble, multi-pass transmembrane proteins, is that those approaches used to rescue soluble protein deficiencies (such as receptor-mediated enzyme replacement therapy, and extensions of this, including gene therapy) are not applicable.
- 1
Both authors contributed equally to this paper.
- 2
To whom correspondence should be addressed. Fax: 61 8 8204 7100. E-mail: [email protected].