30 results on '"LeBowitz, Jonathan H."'
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2. Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix
3. Identifying therapeutic drug targets using bidirectional effect genes
4. Translational studies of intravenous and intracerebroventricular routes of administration for CNS cellular biodistribution for BMN 250, an enzyme replacement therapy for the treatment of Sanfilippo type B
5. Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB
6. Intracerebroventricular dosing of N-sulfoglucosamine sulfohydrolase in mucopolysaccharidosis IIIA mice reduces markers of brain lysosomal dysfunction
7. Additional file 4 of Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix
8. Additional file 12 of Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix
9. Haploinsufficiency underlies the neurodevelopmental consequences ofSLC6A1/GAT-1 variants
10. Correction: Intermittent enzyme replacement therapy prevents Neu1 deficiency
11. Intracerebroventricular enzyme replacement therapy with β-galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice
12. Intermittent enzyme replacement therapy with recombinant human β-galactosidase prevents neuraminidase 1 deficiency
13. Identifying therapeutic drug targets for rare and common forms of short stature
14. Inhibition of endogenous miR‐23a/miR‐377 in CHO cells enhances difficult‐to‐express recombinant lysosomal sulfatase activity
15. Characterization of glycan substrates accumulating in GM1 Gangliosidosis
16. Assessment of predicted enzymatic activity of α‐ N ‐acetylglucosaminidase variants of unknown significance for CAGI 2016
17. Differential Uptake of NAGLU-IGF2 and Unmodified NAGLU in Cellular Models of Sanfilippo Syndrome Type B
18. BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis
19. BMN 250, a fusion of lysosomal alpha-N-acetylglucosaminidase with IGF2, exhibits different patterns of cellular uptake into critical cell types of Sanfilippo syndrome B disease pathogenesis
20. Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence
21. Clearance of Heparan Sulfate and Attenuation of CNS Pathology by Intracerebroventricular BMN 250 in Sanfilippo Type B Mice
22. Cellular Uptake and Delivery of Myeloperoxidase to Lysosomes Promote Lipofuscin Degradation and Lysosomal Stress in Retinal Cells
23. Immunohistochemical analysis of mannose 6-phosphate/insulin-like growth factor 2 receptor in murine wild-type and mucopolysaccharidosis IIIB mutant central nervous system vasculature and implications for trans-blood brain barrier (BBB) transport
24. Histologic characterization of the progression of central nervous system pathology in the mucopolysaccharidosis IIIB (MPS IIIB, Sanfilippo syndrome type B) mouse model and bio-distribution and efficacy of the intracerebroventricular enzyme replacement therapy, BMN 250
25. Utilizing activity assays and population-wide allele frequencies to assess the contribution of novel mutations in NAGLU to MPS IIIB incidence
26. Glycosylation independent lysosomal targeting of alpha-n-acetylglucosaminidase confers highly efficient enzyme uptake into critical cellular targets of disease pathogenesis in mucopolysaccharidosis type IIIB
27. Evaluation of myeloperoxidase as a targeted enzymatic approach for the elimination of retinal A2E in Stargardt disease
28. Time- and dose-dependent normalization of pathological lysosomal storage and biochemistry in the mucopolysaccharidosis ΙΙΙΒ (MPS ΙΙΙΒ, Sanfilippo syndrome type Β) mouse model by intracerebroventricular enzyme replacement therapy with ΒΜΝ 250, a ΝAGLU-ΙGF2 fusion pro
29. Differential Uptake of NAGLU-IGF2 and Unmodified NAGLU in Cellular Models of Sanfilippo Syndrome Type B.
30. Clearance of Heparan Sulfate and Attenuation of CNS Pathology by Intracerebroventricular BMN 250 in Sanfilippo Type B Mice.
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