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1

Psychosine-reducing molecules as potential therapies for globoid-cell leukodystrophy or Krabbe disease

Katabuchi, Asaka, Jang, Dae Song, Hernandez, Jairo, Mirabel, Rosa, Fabian, Isabella, Moser, Ann, Maegawa, Gustavo

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 319 KB

2020

2

One-year follow up of Fabry disease patients treated by IV administration of a plant derived alpha-Gal-A enzyme: safety and efficacy

Hughes, Derralynn, Boyd, Simeon, Giraldo, Pilar, Gonzalez, Derlis, Holida, Myrl, Goker-Alpan, Ozlem, Maegawa, Gustavo, Atta, Mohamed, Nicholls, Kathy, Schiffmann, Raphael, Tuffaha, Ahmad, Barisoni, La

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 51 KB

english, 2017

3

Pegunigalsidase alfa, a novel PEGylated ERT for Fabry disease: Two-year safety and efficacy follow up

Hughes, Derralynn, Giraldo, Pilar, Holida, Myrl, Goker-Alpan, Ozlem, Maegawa, Gustavo, Schiffmann, Raphael, Alon, Sari, Filipovich, Margarita, Szlaifer, Mali, Brill-Almon, Einat, Chertkoff, Raul

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 74 KB

english, 2018

4

Substrate reduction therapy in juvenile GM2 gangliosidosis

Gustavo H.B. Maegawa, Brenda L. Banwell, Susan Blaser, Geoffrey Sorge, Maggie Toplak, Cameron Ackerley, Cynthia Hawkins, Jason Hayes, Joe T.R. Clarke

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 1.53 MB

english, 2009

5

Microphthalmia and linear skin defects syndrome: Precise diagnosis guides prognosis

Satcher, Kerrie G., Maegawa, Gustavo H. B., Schoch, Jennifer J.

Journal:

Pediatric Dermatology

Year:

2019

Language:

english

File:

PDF, 431 KB

english, 2019

6

Early axonal loss accompanied by impaired endocytosis, abnormal axonal transport, and decreased microtubule stability occur in the model of Krabbe's disease

Teixeira, Carla Andreia, Miranda, Catarina Oliveira, Sousa, Vera Filipe, Santos, Telma Emanuela, Malheiro, Ana Rita, Solomon, Melani, Maegawa, Gustavo H., Brites, Pedro, Sousa, Mónica Mendes

Journal:

Neurobiology of Disease

Year:

2014

Language:

english

File:

PDF, 1.65 MB

english, 2014

7

Premature Identical Twin Neonates With Sleep Apnea

Ramesh, Anirudh, Diaz, Johanna, Nogee, Lawrence, Duis, Jessica, Jang, Dae Song, Lawson, Cathleen, Maegawa, Gustavo

Journal:

Clinical Pediatrics

Year:

2017

Language:

english

File:

PDF, 353 KB

english, 2017

8

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

Don Mahuran, Gustavo Maegawa, Michael Tropak, Joe Clarke

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 56 KB

english, 2007

9

Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities

Maegawa, Gustavo H.B.

Journal:

Journal of Child Neurology

Year:

2019

Language:

english

File:

PDF, 531 KB

english, 2019

10

Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay

Gustavo H.B. Maegawa, Nicola K. Poplawski, Brage Storstein Andresen, Simon E. Olpin, Gloria Nie, Joe T.R. Clarke, Ikuko Teshima

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 139 KB

english, 2008

11

Screen and identification of small molecules therapies to reduce elevated psychosine levels in globoid-cell leukodystrophy

Maegawa, Gustavo H., Jang, Dae Song, Tian, Guimei, Solomon, Melani, Bongarzone, Ernesto, Moser, Ann, Maegawa, Gustavo

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 65 KB

english, 2016

12

SCIMITAR SYNDROME: A FAMILY MATTER

Mahendran, Arjun, Saidi, Arwa, Maegawa, Gustavo, Peek, Giles, Traub, Eric, Bleiweis, Mark, Gupta, Dipankar

Journal:

Journal of the American College of Cardiology

Year:

2020

File:

PDF, 112 KB

2020

13

88. Brain MRS in patients with juvenile GM2 gangliosidosis receiving substrate reduction therapy

Gustavo Maegawa, Gustavo Maegawa, Benjamin Schmitt, Susan Blaser, Brenda Banwell, Jason Hayes, Joe Clarke

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 42 KB

english, 2010

14

Pharmacokinetics, safety and tolerability of miglustat in the treatment of pediatric patients with GM2 gangliosidosis

Gustavo H.B. Maegawa, Paul L.M. van Giersbergen, Sandra Yang, Brenda Banwell, Christopher P. Morgan, Jasper Dingemanse, Cynthia J. Tifft, Joe T.R. Clarke

Journal:

Molecular Genetics and Metabolism

Year:

2009

Language:

english

File:

PDF, 560 KB

english, 2009

15

Impaired P50 sensory gating in Machado-Joseph disease

Eduardo S. Ghisolfi, Gustavo H.B. Maegawa, Jefferson Becker, Ana Paula Zanardo, Ivo M. Strimitzer Jr., Alexandre S. Prokopiuk, Maria Luiza Pereira, Thiago Carvalho, Laura B. Jardim, Diogo R. Lara

Journal:

Clinical Neurophysiology

Year:

2004

Language:

english

File:

PDF, 112 KB

english, 2004

16

Focal dermal hypoplasia associated with split sternum ??? Goltz syndrome

Loguercio Leite, J??lio C??sar, Faermann, Renata, Rodrigues Stein, Nina, Zandon??, Denise, Maegawa, Gustavo

Journal:

Clinical Dysmorphology

Year:

2005

Language:

english

File:

PDF, 115 KB

english, 2005

17

Generation of neurologically relevant disease-cell models for lysosomal diseases

Katabuchi, Asaka, Santostefanos, Katherine, Terada, Naohiro, Maegawa, Gustavo

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 55 KB

english, 2018

18

Clinical Neurogenetics

Pastores, Gregory M., Maegawa, Gustavo H.B.

Journal:

Neurologic Clinics

Year:

2013

Language:

english

File:

PDF, 802 KB

english, 2013

19

Mucopolysaccharidoses type I and II: New neuroimaging findings in the cerebellum

Alqahtani, Eman, Huisman, Thierry A.G.M., Boltshauser, Eugen, Scheer, Ianina, Güngör, Tayfun, Tekes, Aylin, Maegawa, Gustavo H., Poretti, Andrea

Journal:

European Journal of Paediatric Neurology

Year:

2014

Language:

english

File:

PDF, 882 KB

english, 2014

20

Ossificação do ligamento longitudinal posterior na coluna cervical: relato de caso

SCOLA, ROSANA HERMINIA, WERNECK, LINEU CESAR, IWAMOTO, FABIO MASSAITI, CABRAL, NORBERTO LUIS, MAEGAWA, GUSTAVO HENRIQUE BOFF, ROGACHESKI, ENIO

Journal:

Arquivos de Neuro-Psiquiatria

Year:

1998

File:

PDF, 375 KB

1998

21

65. Identification of Ambroxol as a potential enzyme enhancement-agent for Gaucher disease

Don Mahuran, Gustavo Maegawa, Michael Tropak, Justin Butner, Gregory Kornhaber, Brigitte Rigat, Joe Clarke

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

22

Using small molecules to increase the direct conversion of culture fibroblasts from MPS II patients into induced-neuronal (iN) cells

Patil, Shilpa A., Kano, Shin-ichi, Sawa, Akira, Maegawa, Gustavo H.B.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 79 KB

english, 2014

23

GALC-folding assistant molecules as potential therapies for Krabbe disease

Katabuchi, Asaka, Jang, Dae Song, Hernandez, Jairo, Mirabel, Rosa, Ye, Wenjuan, Hu, Xin, Kim, David, Henderson, Mark, Ferrer, Marc, Marugan, Juan, Maegawa, Gustavo

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 324 KB

2020

24

Beare-Stevenson syndrome: Two south american patients with FGFR2 analysis

Rosa Andrea Pardo Vargas, Gustavo Henrique Boff Maegawa, Silvia Castillo Taucher, Júlio César L. Leite, Patricia Sanz, Juan Cifuentes, Mauro Parra, Hernán Muñoz, Carlos Magno Maranduba, Maria R. Passo

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 149 KB

english, 2003

25

Effects of cyclodextrin analogs on psychosine cytotoxicity

Salazar, Diana, Jairo, Hernandez, Fabian, Isabella, Bhardwaj, Kuber, Hanbali, Seif, Rodrigues, Joana, Sousa, Monica M., Gelb, Michael, Maegawa, Gustavo

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 324 KB

2020

26

Isofagomine Induced Stabilization of Glucocerebrosidase

Gregory J. Kornhaber, Michael B. Tropak, Gustavo H. Maegawa, Steven J. Tuske, Stephen J. Coales, Don J. Mahuran, Yoshitomo Hamuro

Journal:

Year:

2008

Language:

english

File:

PDF, 892 KB

english, 2008

27

Clinical variability in KBG syndrome: Report of three unrelated families

Gustavo Henrique Boff Maegawa, Júlio Cesar Loguercio Leite, Têmis Maria Félix, Heraldo Luís Dias da Silveira, Heloísa Emília da Silveira

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 136 KB

english, 2004

28

Identification of Pharmacological Chaperones for Gaucher Disease and Characterization of Their Effects on β-Glucocerebrosidase by Hydrogen/Deuterium Exchange Mass Spectrometry

Michael B. Tropak, Gregory J. Kornhaber, Brigitte A. Rigat, Gustavo H. Maegawa, Justin D. Buttner, Jan E. Blanchard, Cecilia Murphy, Steven J. Tuske, Stephen J. Coales, Yoshitomo Hamuro, Eric D. Brown

Journal:

Year:

2008

Language:

english

File:

PDF, 1.28 MB

english, 2008

29

Characterization and application of a disease-cell model for a neurodegenerative lysosomal disease

Ribbens, Jameson J., Moser, Ann B., Hubbard, Walter C., Bongarzone, Ernesto R., Maegawa, Gustavo H.B.

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 2.12 MB

english, 2014

30

Novel Patient Cell-Based HTS Assay for Identification of Small Molecules for a Lysosomal Storage Disease

Geng, Haifeng, Whiteley, Grace, Ribbens, Jameson, Zheng, Wei, Southall, Noel, Hu, Xin, Marugan, Juan J., Ferrer, Marc, Maegawa, Gustavo H. B., Vij, Neeraj

Journal:

Year:

2011

Language:

english

File:

PDF, 1.48 MB

english, 2011

31

Síndrome do desfiladeiro torácico tipo neurogênico verdadeiro: relato de dois casos

SCOLA, ROSANA HERMINIA, WERNECK, LINEU CESAR, IWAMOTO, FABIO MASSAITI, MAEGAWA, GUSTAVO HENRIQUE, FAORO, LEONARDO NERCOLINI, CALDEIRA, FRANCISCO H.

Journal:

Arquivos de Neuro-Psiquiatria

Year:

1999

File:

PDF, 245 KB

1999

32

WITHDRAWN: 91 Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis

Mahuran, Don, Maegawa, Gustavo, Clarke, Joe, Tropak, Michael

Journal:

Molecular Genetics and Metabolism

Year:

2007

File:

PDF, 10 KB

2007

33

Development of a Psychosine Assay to Identify Therapeutic Small Molecules for Krabbe Disease

Gustavo Maegawa, Ann Moser, Walter Hubbard, Ernesto Bongarzone, Jameson Ribbens, Gustavo Maegawa

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 56 KB

english, 2012

34

Duodenal and biliary atresia associated with facial, thyroid and auditory apparatus abnormalities: a new mandibulofacial dysostosis syndrome?

Maegawa, Gustavo H.B., Chitayat, David, Blaser, Susan, Whyte, Hilary, Thomas, Micki, Kim, Peter, Kim, Jae, Taylor, Glen, McNamara, Patrick J.

Journal:

Clinical Dysmorphology

Year:

2006

Language:

english

File:

PDF, 403 KB

english, 2006

35

Serendipitous effects of β-cyclodextrin on murine model of Krabbe disease

Katabuchi, Asaka U., Godoy, Vivian, Shil, Priya, Moser, Ann, Maegawa, Gustavo H.B.

Journal:

Molecular Genetics and Metabolism Reports

Year:

2018

Language:

english

File:

PDF, 627 KB

english, 2018

36

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

Schiffmann, Raphael, Goker-Alpan, Ozlem, Holida, Myrl, Giraldo, Pilar, Barisoni, Laura, Colvin, Robert B., Jennette, J. Charles, Maegawa, Gustavo, Boyadjiev, Simeon A., Gonzalez, Derlis, Nicholls, Kat

Journal:

Journal of Inherited Metabolic Disease

Year:

2019

File:

PDF, 1.26 MB

2019

37

Effects of psychosine-reducing agents in the twitcher murine model for Krabbe disease

Katabuchi, Asaka, Godoy, Vivian, Shil, Priya, Maegawa, Gustavo

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 69 KB

english, 2018

38

Exosomes with unique CNS-targeting properties brings novel therapeutic strategy to neuronopathic LDs

Edelmann, Mariola J., Ou, Mark, Hui, Winnie, Hernandez, Jairo, Mirabel, Rosa, Maegawa, Gustavo

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 340 KB

2020

39

Cover Picture: Identification of Pharmacological Chaperones for Gaucher Disease and Characterization of Their Effects on β-Glucocerebrosidase by Hydrogen/Deuterium Exchange Mass Spectrometry (ChemBioChem 16/2008)

Michael B. Tropak, Gregory J. Kornhaber, Brigitte A. Rigat, Gustavo H. Maegawa, Justin D. Buttner, Jan E. Blanchard, Cecilia Murphy, Steven J. Tuske, Stephen J. Coales, Yoshitomo Hamuro, Eric D. Brown

Journal:

Year:

2008

Language:

english

File:

PDF, 1.07 MB

english, 2008

40

PRX-102 for treating Fabry disease: immunogenicity and PK results from a phase 1-2 study

Warnock, David, Hughes, Derralynn, Boyd, Simeon, Giraldo, Pilar, Gonzalez, Derlis, Holida, Myrl, Goker-Alpan, Ozlem, Maegawa, Gustavo, Atta, Mohamed, Nicholls, Kathy, Schiffmann, Raphael, Tuffaha, Ahm

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 62 KB

english, 2017

41

Identification of psychosine-reducing small molecule agents for Krabbe disease

Jang, Dae Song, Katabuchi, Asaka, Solomon, Melani, Moser, Ann, Maegawa, Gustavo

Journal:

Molecular Genetics and Metabolism

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

42

Comparative analysis of PCR-deletion detection and immunohistochemistry in Brazilian Duchenne and Becker muscular dystrophy patients

Lineu Cesar Werneck, Rosana Herminia Scola, Gustavo Henrique Boff Maegawa, Maurício Cesar Moura Werneck

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 95 KB

english, 2001

43

GM2 gangliosidosis: the prototype of lysosomal storage disorders

GUSTAVO MAEGAWA

Journal:

Developmental Medicine & Child Neurology

Year:

2012

Language:

english

File:

PDF, 54 KB

english, 2012

44

Generation of neurologically relevant disease-cell models for lysosomal diseases

Katabuchi, Asaka, Santostefanos, Katherine, Terada, Naohiro, Maegawa, Gustavo

Journal:

Molecular Genetics and Metabolism

Year:

2018

File:

PDF, 55 KB

2018

45

Effects of psychosine-reducing agents in the twitcher murine model for Krabbe disease

Katabuchi, Asaka, Godoy, Vivian, Shil, Priya, Maegawa, Gustavo

Journal:

Molecular Genetics and Metabolism

Year:

2018

File:

PDF, 69 KB

2018

46

Pegunigalsidase alfa, PEGylated Î±-galactosidase-A enzyme in development for the treatment of Fabry disease, shows correlation between renal GB3 inclusion clearance and reduction of plasma Lyso-GB3

Hughes, Derralynn, Boyd, Simeon, Giraldo, Pilar, Gonzales, Derlis, Holida, Myrl, Goker-Alpan, Ozlem, Atta, Mohamed G., Nicholls, Kathy, Schiffmann, Raphael, Tuffaha, Ahmad, Maegawa, Gustavo, Barisoni,

Journal:

Molecular Genetics and Metabolism

Year:

2020

File:

PDF, 355 KB

2020

47

100. Effects of novel β-glucocerebrosidase enhancers and pharmacological chaperones on protein stability/dynamics probed by hydrogen–deuterium exchange mass spectrometry

Michael Tropak, Greg Kornhaber, Gustavo Maegawa, Justin Buttner, Jan Blancharrd, Brigitte Rigat, Eric Brown, Don Mahuran

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 44 KB

english, 2008

48

A high-throughput screening assay using Krabbe disease patient cells

Ribbens, Jameson, Whiteley, Grace, Furuya, Hirokazu, Southall, Noel, Hu, Xin, Marugan, Juan, Ferrer, Marc, Maegawa, Gustavo H.B.

Journal:

Analytical Biochemistry

Year:

2013

Language:

english

File:

PDF, 1.17 MB

english, 2013

49

Cell-based high-throughput screening identifies galactocerebrosidase enhancers as potential small-molecule therapies for Krabbe's disease

Jang, Dae Song, Ye, Wenjuan, Guimei, Tian, Solomon, Melani, Southall, Noel, Hu, Xin, Marugan, Juan, Ferrer, Marc, Maegawa, Gustavo H.B.

Journal:

Journal of Neuroscience Research

Year:

2016

Language:

english

File:

PDF, 1.41 MB

english, 2016

50

Developing of cell-based high-throughput screening assay for the identification of potential therapeutic small molecules for metachromatic leukodystrophy

Gustavo Maegawa, Cassandra Obie, Jameson Ribbens, Grace Whiteley, George Thomas, Marc Ferrer, Wei Zheng, Gustavo Maegawa

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 61 KB

english, 2011

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