Tetrahydrobiopterin deficiency in the pathogenesis of Fabry disease

Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

(2016) Dominique P. Germain et al.   NEW ENGLAND JOURNAL OF MEDICINE

Blocking hyperactive androgen receptor signaling ameliorates cardiac and renal hypertrophy in Fabry mice

(2015) Jin-Song Shen et al.   HUMAN MOLECULAR GENETICS

Increased oxidative stress contributes to cardiomyocyte dysfunction and death in patients with Fabry disease cardiomyopathy

(2015) Cristina Chimenti et al.   HUMAN PATHOLOGY

Mannose receptor-mediated delivery of moss-made α-galactosidase A efficiently corrects enzyme deficiency in Fabry mice

(2015) Jin-Song Shen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Establishing 3-nitrotyrosine as a biomarker for the vasculopathy of Fabry disease

(2014) Liming Shu et al.   KIDNEY INTERNATIONAL

Endothelial nitric oxide synthase uncoupling and microvascular dysfunction in the mesentery of mice deficient in α-galactosidase A

(2013) Justin J. Kang et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Tetrahydrobiopterin in Cardiovascular Health and Disease

(2013) Jennifer K. Bendall et al.   ANTIOXIDANTS & REDOX SIGNALING

Cardiomyocyte GTP Cyclohydrolase 1 and Tetrahydrobiopterin Increase NOS1 Activity and Accelerate Myocardial Relaxation

(2012) Ricardo Carnicer et al.   CIRCULATION RESEARCH

Cardiomyopathy and Response to Enzyme Replacement Therapy in a Male Mouse Model for Fabry Disease

(2012) Aurelie Nguyen Dinh Cat et al.   PLoS One

Systemic Delivery of a Glucosylceramide Synthase Inhibitor Reduces CNS Substrates and Increases Lifespan in a Mouse Model of Type 2 Gaucher Disease

(2012) Mario A. Cabrera-Salazar et al.   PLoS One

Globotriaosylceramide is correlated with oxidative stress and inflammation in Fabry patients treated with enzyme replacement therapy

(2011) Giovana B. Biancini et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Validation of high-performance liquid chromatography–boron-doped diamond detection for assessing hepatic glutathione redox status

(2010) Hea Jin Park et al.   ANALYTICAL BIOCHEMISTRY

eNOS uncoupling and endothelial dysfunction in aged vessels

(2009) Yang-Ming Yang et al.   AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY

Kidney Androgen-Regulated Protein Transgenic Mice Show Hypertension and Renal Alterations Mediated by Oxidative Stress

(2009) O. Tornavaca et al.   CIRCULATION

Decreased Nitric Oxide Bioavailability in a Mouse Model of Fabry Disease

(2009) L. Shu et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Fabry disease

(2009) Raphael Schiffmann   PHARMACOLOGY & THERAPEUTICS

Reversal of Cardiac Hypertrophy and Fibrosis From Pressure Overload by Tetrahydrobiopterin

(2008) An L. Moens et al.   CIRCULATION

Globotriaosylceramide induces oxidative stress and up-regulates cell adhesion molecule expression in Fabry disease endothelial cells

(2008) Jin-Song Shen et al.   MOLECULAR GENETICS AND METABOLISM

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

(2008) J. M. Aerts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA