Gustavo Maegawa

Gustavo Maegawa, MD, PhD, FACMG

Associate Professor

Department: Pediatric Genetics and Metabolism
Business Phone: (352) 294-5050
Business Email: gmaegawa@ufl.edu

Accomplishments

Shanghai Summit Forum on Pediatric Endocrine & Genetic Metabolic Diseases Appreciation Award
2017 · Shanghai Summit Forum on Pediatric Endocrine & Genetic Metabolic Diseases
Honoree for Contributions to LSDs
2016 · The Mathew Forbes Romer Foundation

Board Certifications

  • Biochemical Genetics
    American Board of Medical Genetics and Genomics
  • Clinical Genetics and Genomics
    American Board of Medical Genetics and Genomics
  • Clinical Genetics, Fellow, F.C.C.M.G.
    Canadian College of Medical Genetics
  • Fellow Member, F.A.C.M.G.
    American College of Medical Genetics

Clinical Profile

Specialties
  • Pediatric Genetics and Metabolism
  • Pediatrics
Areas of Interest
  • Inborn errors of metabolism
  • Krabbe disease
  • Metachromatic leukodystrophy

Research Profile

Open Researcher and Contributor ID (ORCID)

0000-0001-6933-4138

Areas of Interest
  • High-throughput Screening Development for Therapeutics
  • Inborn White Matter Diseases
  • Lysosomal Biology
  • Lysosomal Leukodystrophies
  • Lysosomal Storage Diseases
  • Myelin Disorders
  • Small Molecule Therapeutic Discovery

Publications

2021
Antigen-encapsulating host extracellular vesicles derived from Salmonella-infected cells stimulate pathogen-specific Th1-type responses in vivo.
PLoS pathogens. 17(5) [DOI] 10.1371/journal.ppat.1009465. [PMID] 33956909.
2021
Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B.
Human mutation. 42(5):614-625 [DOI] 10.1002/humu.24192. [PMID] 33675270.
2021
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines.
Journal of inherited metabolic disease. 44(3):728-739 [DOI] 10.1002/jimd.12356. [PMID] 33373467.
2021
Potential Disease-Modifying Effects of Lithium Carbonate in Niemann-Pick Disease, Type C1.
Frontiers in pharmacology. 12 [DOI] 10.3389/fphar.2021.667361. [PMID] 34177581.
2020
Ambroxol improves skeletal and hematological manifestations on a child with Gaucher disease.
Journal of human genetics. 65(3):345-349 [DOI] 10.1038/s10038-019-0704-3. [PMID] 31822786.
2020
CNS-Targeting Therapies for Lysosomal Storage Diseases: Current Advances and Challenges.
Frontiers in molecular biosciences. 7 [DOI] 10.3389/fmolb.2020.559804. [PMID] 33304924.
2020
Gaucher disease and SARS-CoV-2 infection: Emerging management challenges.
Molecular genetics and metabolism. 130(3):164-169 [DOI] 10.1016/j.ymgme.2020.05.002. [PMID] 32471800.
2020
Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis.
Pediatric dermatology. 37(1):217-218 [DOI] 10.1111/pde.13946. [PMID] 31373408.
2019
Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.
American journal of human genetics. 104(6):1210-1222 [DOI] 10.1016/j.ajhg.2019.03.021. [PMID] 31079897.
2019
Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities.
Journal of child neurology. 34(6):339-358 [DOI] 10.1177/0883073819828587. [PMID] 30757954.
2019
Pegunigalsidase alfa, a novel PEGylated enzyme replacement therapy for Fabry disease, provides sustained plasma concentrations and favorable pharmacodynamics: A 1-year Phase 1/2 clinical trial.
Journal of inherited metabolic disease. 42(3):534-544 [DOI] 10.1002/jimd.12080. [PMID] 30834538.
2018
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Annals of neurology. 84(5):766-780 [DOI] 10.1002/ana.25351. [PMID] 30295347.
2018
Serendipitous effects of β-cyclodextrin on murine model of Krabbe disease.
Molecular Genetics and Metabolism Reports. 15:98-99 [DOI] 10.1016/j.ymgmr.2018.03.002. [PMID] 30023296.
2017
Long-term Outcome of 4 Patients With Transcobalamin Deficiency Caused by 2 Novel TCN2 Mutations.
Journal of pediatric hematology/oncology. 39(8):e430-e436 [DOI] 10.1097/MPH.0000000000000857. [PMID] 28538514.
2016
Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe’s disease.
Journal of neuroscience research. 94(11):1231-45 [DOI] 10.1002/jnr.23875. [PMID] 27638606.
2016
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
Autophagy. 12(1):1-222 [DOI] 10.1080/15548627.2015.1100356. [PMID] 26799652.
2016
Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
American journal of human genetics. 98(2):347-57 [DOI] 10.1016/j.ajhg.2015.12.008. [PMID] 26805781.
2015
Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy.
Current molecular medicine. 15(2):138-45 [PMID] 25732146.
View on: PubMed
2014
Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease.
Molecular genetics and metabolism. 111(2):172-83 [DOI] 10.1016/j.ymgme.2013.09.011. [PMID] 24094551.
2014
Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe’s disease.
Neurobiology of disease. 66:92-103 [DOI] 10.1016/j.nbd.2014.02.012. [PMID] 24607884.
2014
Mucopolysaccharidoses type I and II: new neuroimaging findings in the cerebellum.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. 18(2):211-7 [DOI] 10.1016/j.ejpn.2013.11.014. [PMID] 24423630.
2013
A high-throughput screening assay using Krabbe disease patient cells.
Analytical biochemistry. 434(1):15-25 [DOI] 10.1016/j.ab.2012.10.034. [PMID] 23138179.
2013
Clinical neurogenetics: neuropathic lysosomal storage disorders.
Neurologic clinics. 31(4):1051-71 [DOI] 10.1016/j.ncl.2013.04.007. [PMID] 24176423.
2013
Developing therapeutic approaches for metachromatic leukodystrophy.
Drug design, development and therapy. 7:729-45 [DOI] 10.2147/DDDT.S15467. [PMID] 23966770.
2013
Novel proton MR spectroscopy findings in adenylosuccinate lyase deficiency.
Journal of magnetic resonance imaging : JMRI. 37(4):974-80 [DOI] 10.1002/jmri.23852. [PMID] 23055421.
2012
GM2 gangliosidosis: the prototype of lysosomal storage disorders.
Developmental medicine and child neurology. 54(2):104-5 [DOI] 10.1111/j.1469-8749.2011.04163.x. [PMID] 22224667.
2011
Novel patient cell-based HTS assay for identification of small molecules for a lysosomal storage disease.
PloS one. 6(12) [DOI] 10.1371/journal.pone.0029504. [PMID] 22216298.
2009
Expanding CEP290 mutational spectrum in ciliopathies.
American journal of medical genetics. Part A. 149A(10):2173-80 [DOI] 10.1002/ajmg.a.33025. [PMID] 19764032.
2009
Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease.
The Journal of biological chemistry. 284(35):23502-16 [DOI] 10.1074/jbc.M109.012393. [PMID] 19578116.
2009
Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence.
Fetal diagnosis and therapy. 25(2):177-82 [DOI] 10.1159/000209385. [PMID] 19321960.
2009
Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis.
Molecular genetics and metabolism. 97(4):284-91 [DOI] 10.1016/j.ymgme.2009.04.013. [PMID] 19447653.
2009
Substrate reduction therapy in juvenile GM2 gangliosidosis.
Molecular genetics and metabolism. 98(1-2):215-24 [DOI] 10.1016/j.ymgme.2009.06.005. [PMID] 19595619.
2008
Identification of pharmacological chaperones for Gaucher disease and characterization of their effects on beta-glucocerebrosidase by hydrogen/deuterium exchange mass spectrometry.
Chembiochem : a European journal of chemical biology. 9(16):2650-62 [DOI] 10.1002/cbic.200800304. [PMID] 18972510.
2008
Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.
American journal of medical genetics. Part A. 146A(12):1581-6 [DOI] 10.1002/ajmg.a.32255. [PMID] 18478588.
2008
Isofagomine induced stabilization of glucocerebrosidase.
Chembiochem : a European journal of chemical biology. 9(16):2643-9 [DOI] 10.1002/cbic.200800249. [PMID] 18932186.
2007
Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.
The Journal of biological chemistry. 282(12):9150-61 [PMID] 17237499.
View on: PubMed
2006
Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?
Clinical dysmorphology. 15(4):191-6 [PMID] 16957470.
View on: PubMed
2006
Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome.
Journal of medical genetics. 43(5) [PMID] 16648375.
View on: PubMed
2006
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.
Pediatrics. 118(5):e1550-62 [PMID] 17015493.
View on: PubMed
2005
Focal dermal hypoplasia associated with split sternum–Goltz syndrome.
Clinical dysmorphology. 14(1):37-9 [PMID] 15602093.
View on: PubMed
2004
Clinical variability in KBG syndrome: report of three unrelated families.
American journal of medical genetics. Part A. 131(2):150-4 [PMID] 15384099.
View on: PubMed
2004
Impaired P50 sensory gating in Machado-Joseph disease.
Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. 115(10):2231-5 [PMID] 15351363.
View on: PubMed
2003
Beare-Stevenson syndrome: Two South American patients with FGFR2 analysis.
American journal of medical genetics. Part A. 121A(1):41-6 [PMID] 12900900.
View on: PubMed
2001
Comparative analysis of PCR-deletion detection and immunohistochemistry in Brazilian Duchenne and Becker muscular dystrophy patients.
American journal of medical genetics. 103(2):115-20 [PMID] 11568916.
View on: PubMed
1999
[True neurogenic outlet syndrome: report of 2 cases].
Arquivos de neuro-psiquiatria. 57(3A):659-65 [PMID] 10667293.
View on: PubMed
1998
[Ossification of the posterior longitudinal ligament in the cervical spine: case report].
Arquivos de neuro-psiquiatria. 56(3A):480-5 [PMID] 9754433.
View on: PubMed
Heterozygous variants in KMT2E cause a spectrum of neurodevelopmental disorders and epilepsy
. [DOI] 10.1101/566091.

Grants

May 2021 ACTIVE
Characterization of Small Molecule Therapeutic Agents for a Lysosomal Leukodystrophy
Role: Principal Investigator
Funding: NATL INST OF HLTH NINDS
May 2020 ACTIVE
Host enzymes as targets of novel host-directed antimicrobial therapies
Role: Co-Investigator
Funding: US ARMY MED RES ACQUISITION
Feb 2020 – Jul 2021
Developing a target-assay for substrate reduction agents for Krabbe disease
Role: Principal Investigator
Funding: LEGACY OF ANGELS FOUNDATION
Jul 2019 ACTIVE
Exososomal CNS-Delivery of Therapies for a Lysosomal Disorder
Role: Principal Investigator
Funding: NATL INST OF HLTH NINDS
May 2019 ACTIVE
Lysosomal Storage Disorders Educational program for Future Health Care Professionals at The UF Shands Hospital
Role: Principal Investigator
Funding: PFIZER INC
Mar 2018 – Feb 2019
Leukodystrophy Care Network at UF Health Shands Hospital
Role: Principal Investigator
Funding: Hunter's Hope Foundation
Oct 2015 – Feb 2018
DEVELOPMENT OF A HTS ASSAY FOR A NEUROLOGICAL LYSOSOMALDISEASE
Role: Principal Investigator
Funding: NATL INST OF HLTH NINDS
Aug 2015 – Jul 2016
A Novel Cell-Based Assay to Identify Small Molecules for B-Galactocerebrosidase
Role: Principal Investigator
Funding: JOHNS HOPKINS UNIVERSITY via NATL INST OF HLTH NIMH

Education

Biochemical Genetics Fellowship
2008 · Hospital for Sick Children (SickKids), University of Toronto, Toronto, ON, Canada
Fellowship – Biochemical Genetics
2008 · Hospital for Sick Children (SickKids), University of Toronto, Toronto, ON, Canada
Ph.D.
2008 · University of Toronto, Institute of Medical Sciences, Faculty of Medicine, Toronto, ON, Canada
Fellowship – Clinical and Metabolic Genetics
2005 · Hospital for Sick Children (SickKids), University of Toronto, Toronto, ON, Canada
Residency – Pediatrics/Medical Genetics
2003 · Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil
M.D.
2000 · Universidade Federal do Parana, Curitiba, PR, Brazil

Teaching Profile

Courses Taught
2015
GMS7794 Neuroscience Seminar

Contact Details

Phones:
Business:
(352) 294-5050
Emails:
Business:
gmaegawa@ufl.edu