Detalhe da pesquisa
1.
Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants.
Am J Hum Genet
; 111(6): 1222-1238, 2024 Jun 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-38781976
2.
Intracerebroventricular dosing of N-sulfoglucosamine sulfohydrolase in mucopolysaccharidosis IIIA mice reduces markers of brain lysosomal dysfunction.
J Biol Chem
; 298(12): 102625, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36306823
3.
Intermittent enzyme replacement therapy with recombinant human ß-galactosidase prevents neuraminidase 1 deficiency
J Biol Chem
; 295(39): 13556-13569, 2020 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-32727849
4.
Intracerebroventricular enzyme replacement therapy with ß-galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice.
J Biol Chem
; 295(39): 13532-13555, 2020 09 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481471
5.
Assessment of predicted enzymatic activity of α-N-acetylglucosaminidase variants of unknown significance for CAGI 2016.
Hum Mutat
; 40(9): 1519-1529, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31342580
6.
Cellular Uptake and Delivery of Myeloperoxidase to Lysosomes Promote Lipofuscin Degradation and Lysosomal Stress in Retinal Cells.
J Biol Chem
; 292(10): 4255-4265, 2017 03 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28115520
7.
Delivery of an enzyme-IGFII fusion protein to the mouse brain is therapeutic for mucopolysaccharidosis type IIIB.
Proc Natl Acad Sci U S A
; 111(41): 14870-5, 2014 Oct 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-25267636
8.
Correction: Intermittent enzyme replacement therapy prevents Neu1 deficiency.
J Biol Chem
; 295(46): 15794, 2020 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33188082
9.
Glycosylation-independent lysosomal targeting of acid α-glucosidase enhances muscle glycogen clearance in pompe mice.
J Biol Chem
; 288(3): 1428-38, 2013 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-23188827
10.
Predicting disease severity in metachromatic leukodystrophy using protein activity and a patient phenotype matrix.
Genome Biol
; 24(1): 172, 2023 07 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37480112
11.
Identifying therapeutic drug targets using bidirectional effect genes.
Nat Commun
; 12(1): 2224, 2021 04 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33850126
12.
Inhibition of endogenous miR-23a/miR-377 in CHO cells enhances difficult-to-express recombinant lysosomal sulfatase activity.
Biotechnol Prog
; 36(3): e2974, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31990124
13.
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.
Drug Deliv Transl Res
; 10(2): 425-439, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31942701
14.
Characterization of glycan substrates accumulating in GM1 Gangliosidosis.
Mol Genet Metab Rep
; 21: 100524, 2019 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-31720227
15.
Differential Uptake of NAGLU-IGF2 and Unmodified NAGLU in Cellular Models of Sanfilippo Syndrome Type B.
Mol Ther Methods Clin Dev
; 14: 56-63, 2019 Sep 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-31309128
16.
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.
PLoS One
; 14(1): e0207836, 2019.
Artigo
em Inglês
| MEDLINE | ID: mdl-30657762
17.
Coordinate regulation of a family of promastigote-enriched mRNAs by the 3'UTR PRE element in Leishmania mexicana.
Mol Biochem Parasitol
; 157(1): 54-64, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-18023890
18.
Utilizing ExAC to assess the hidden contribution of variants of unknown significance to Sanfilippo Type B incidence.
PLoS One
; 13(7): e0200008, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29979746
19.
Clearance of Heparan Sulfate and Attenuation of CNS Pathology by Intracerebroventricular BMN 250 in Sanfilippo Type B Mice.
Mol Ther Methods Clin Dev
; 6: 43-53, 2017 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28664165
20.
The two cytoplasmic dynein-2 isoforms in Leishmania mexicana perform separate functions.
Mol Biochem Parasitol
; 143(2): 216-25, 2005 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-16054709