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Gustavo Maegawa

Researcher at University of Florida

Publications -  71
Citations -  7234

Gustavo Maegawa is an academic researcher from University of Florida. The author has contributed to research in topics: Medicine & Fabry disease. The author has an hindex of 23, co-authored 62 publications receiving 6414 citations. Previous affiliations of Gustavo Maegawa include Johns Hopkins University School of Medicine & University of Toronto.

Papers
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Journal ArticleDOI

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

Daniel J. Klionsky, +2522 more
- 21 Jan 2016 - 
TL;DR: In this paper, the authors present a set of guidelines for the selection and interpretation of methods for use by investigators who aim to examine macro-autophagy and related processes, as well as for reviewers who need to provide realistic and reasonable critiques of papers that are focused on these processes.
Journal ArticleDOI

Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease.

Gustavo Maegawa, +10 more
- 28 Aug 2009 - 
TL;DR: Ambroxol (ABX), a drug used to treat airway mucus hypersecretion and hyaline membrane disease in newborns, was identified and found to be a pH-dependent, mixed-type inhibitor of GCase, and modeling studies indicated that ABX interacts with both active and non-active site residues.
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The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.

Gustavo Maegawa, +8 more
- 01 Nov 2006 - 
TL;DR: The genotype-phenotype correlation revealed that in patients with the Tay-Sachs variant, the presence of R178H and R499H mutations was predictive of an early onset and rapidly progressive course of juvenile GM2 gangliosidosis.
Journal ArticleDOI

Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis

Gustavo Maegawa, +6 more
- 23 Mar 2007 - 
TL;DR: It is concluded that PYR functions as a mutation-specific PC, variably enhancing residual lysosomal Hex A levels in late-onset GM2 gangliosidosis patient cells.
Journal ArticleDOI

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Seema R. Lalani, +59 more
- 04 Feb 2016 - 
TL;DR: The results show that the c.460G>A (p.Gly154Arg) mutation and the exons 3-9 heterozygous deletion in TANGO2 are recurrent pathogenic alleles present in the Latino/Hispanic and European populations, respectively, causing considerable morbidity in the homozygotes in these populations.