Pompe Disease Results in a Golgi-based Glycosylation Deficit in Human Induced Pluripotent Stem Cell-derived Cardiomyocytes

Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

(2014) Hudson H. Freeze et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Filter-Aided N-Glycan Separation (FANGS): A Convenient Sample Preparation Method for Mass Spectrometric N-Glycan Profiling

(2014) Salina Abdul Rahman et al.   JOURNAL OF PROTEOME RESEARCH

Cohen syndrome is associated with major glycosylation defects

(2013) Laurence Duplomb et al.   HUMAN MOLECULAR GENETICS

TheO-Mannosylation Pathway: Glycosyltransferases and Proteins Implicated in Congenital Muscular Dystrophy

(2013) Lance Wells   JOURNAL OF BIOLOGICAL CHEMISTRY

E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction

(2013) Willem J. De Lange et al.   JOURNAL OF GENERAL PHYSIOLOGY

Expression of the sialyltransferase, ST3Gal4, impacts cardiac voltage-gated sodium channel activity, refractory period and ventricular conduction

(2013) Andrew R. Ednie et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Dysregulation of Multiple Facets of Glycogen Metabolism in a Murine Model of Pompe Disease

(2013) Kristin M. Taylor et al.   PLoS One

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

(2012) François Foulquier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Autophagy and mitochondria in Pompe disease: Nothing is so new as what has long been forgotten

(2012) Nina Raben et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Autophagy in lysosomal storage disorders

(2012) Andrew P. Lieberman et al.   Autophagy

Guidelines for the use and interpretation of assays for monitoring autophagy

(2012) Daniel J. Klionsky et al.   Autophagy

The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII)

(2012) A C Nascimbeni et al.   CELL DEATH AND DIFFERENTIATION

Understanding Cardiomyopathy Phenotypes Based on the Functional Impact of Mutations in the Myosin Motor

(2012) Jeffrey R. Moore et al.   CIRCULATION RESEARCH

Channel sialic acids limit hERG channel activity during the ventricular action potential

(2012) Sarah A. Norring et al.   FASEB JOURNAL

From discrete dilated cardiomyopathy to successful cardiac transplantation in congenital disorders of glycosylation due to dolichol kinase deficiency (DK1-CDG)

(2012) Livia Kapusta et al.   HEART FAILURE REVIEWS

Cozzarelli Prize Winner: Robust cardiomyocyte differentiation from human pluripotent stem cells via temporal modulation of canonical Wnt signaling

(2012) X. Lian et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Dystroglycan Function Requires Xylosyl- and Glucuronyltransferase Activities of LARGE

(2012) K.-i. Inamori et al.   SCIENCE

Neonatal Mouse–Derived Engineered Cardiac Tissue

(2011) W.J. de Lange et al.   CIRCULATION RESEARCH

G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction

(2011) B. Hayee et al.   GLYCOBIOLOGY

Sarcolemma instability during mechanical activity in Large myd cardiac myocytes with loss of dystroglycan extracellular matrix receptor function

(2011) Zhyldyz Kabaeva et al.   HUMAN MOLECULAR GENETICS

Left Ventricular Geometry, Global Function, and Dyssynchrony in Infants and Children With Pompe Cardiomyopathy Undergoing Enzyme Replacement Therapy

(2011) Chun-An Chen et al.   JOURNAL OF CARDIAC FAILURE

Human Engineered Heart Tissue as a Versatile Tool in Basic Research and Preclinical Toxicology

(2011) Sebastian Schaaf et al.   PLoS One

Development of a Drug Screening Platform Based on Engineered Heart Tissue

(2010) Arne Hansen et al.   CIRCULATION RESEARCH

Homozygous deletion of exon 18 leads to degradation of the lysosomal α-glucosidase precursor and to the infantile form of glycogen storage disease type II

(2010) Margreet G. E. M. Ausems et al.   CLINICAL GENETICS

Impaired organization and function of myofilaments in single muscle fibers from a mouse model of Pompe disease

(2010) Sengen Xu et al.   JOURNAL OF APPLIED PHYSIOLOGY

Differences in the predominance of lysosomal and autophagic pathologies between infants and adults with Pompe disease: implications for therapy

(2010) Nina Raben et al.   MOLECULAR GENETICS AND METABOLISM

Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy

(2009) Barry J. Maron   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Cardiomyopathy in the congenital disorders of glycosylation (CDG): a case of late presentation and literature review

(2009) E. J. Footitt et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Reversal of Cardiac Dysfunction after Enzyme Replacement in Patients with Infantile-Onset Pompe Disease

(2009) Lei-Ru Chen et al.   JOURNAL OF PEDIATRICS

Murine muscle cell models for Pompe disease and their use in studying therapeutic approaches

(2009) Shoichi Takikita et al.   MOLECULAR GENETICS AND METABOLISM

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

(2009) Priya S. Kishnani et al.   MOLECULAR GENETICS AND METABOLISM

Regulated and aberrant glycosylation modulate cardiac electrical signaling

(2009) M. L. Montpetit et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human Induced Pluripotent Stem Cells Free of Vector and Transgene Sequences

(2009) J. Yu et al.   SCIENCE

Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease

(2008) Roddy McDowell et al.   GENETICS IN MEDICINE

Suppression of autophagy in skeletal muscle uncovers the accumulation of ubiquitinated proteins and their potential role in muscle damage in Pompe disease

(2008) N. Raben et al.   HUMAN MOLECULAR GENETICS

Pompe's disease

(2008) Ans T van der Ploeg et al.   LANCET