Pharmacological Chaperoning: A Potential Treatment for PMM2-CDG

The Effects of PMM2-CDG-Causing Mutations on the Folding, Activity, and Stability of the PMM2 Protein

(2015) Patricia Yuste-Checa et al.   HUMAN MUTATION

PAINS in the Assay: Chemical Mechanisms of Assay Interference and Promiscuous Enzymatic Inhibition Observed during a Sulfhydryl-Scavenging HTS

(2015) Jayme L. Dahlin et al.   JOURNAL OF MEDICINAL CHEMISTRY

Phosphomannomutase deficiency (PMM2-CDG): ataxia and cerebellar assessment

(2015) Mercedes Serrano et al.   Orphanet Journal of Rare Diseases

Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

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

The essential roles of chemistry in high-throughput screening triage

(2014) Jayme L Dahlin et al.   Future Medicinal Chemistry

Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators

(2014) Ania C. Muntau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Chemistry: Chemical con artists foil drug discovery

(2014) Jonathan Baell et al.   NATURE

Gaucher iPSC-Derived Macrophages Produce Elevated Levels of Inflammatory Mediators and Serve as a New Platform for Therapeutic Development

(2014) Leelamma M. Panicker et al.   STEM CELLS

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

(2013) Peter D. Stenson et al.   HUMAN GENETICS

Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type

(2013) A. Jorge-Finnigan et al.   HUMAN MOLECULAR GENETICS

Biochemical phenotype of a common disease-causing mutation and a possible therapeutic approach for the phosphomannomutase 2-associated disorder of glycosylation

(2013) Giuseppina Andreotti et al.   Molecular Genetics & Genomic Medicine

Rhodanine as a scaffold in drug discovery: a critical review of its biological activities and mechanisms of target modulation

(2012) Tihomir Tomašić et al.   Expert Opinion on Drug Discovery

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

(2012) Gustavo Tiscornia et al.   HUMAN MOLECULAR GENETICS

Chemical and Biological Properties of Frequent Screening Hits

(2012) Jianwei Che et al.   Journal of Chemical Information and Modeling

Small Molecules That Target Protein Misfolding

(2012) Lori Krim Gavrin et al.   JOURNAL OF MEDICINAL CHEMISTRY

Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade

(2012) C. E. Bulawa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Phosphomannose Isomerase Inhibitors ImproveN-Glycosylation in Selected Phosphomannomutase-deficient Fibroblasts

(2011) Vandana Sharma et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice

(2011) Anette Schneider et al.   NATURE MEDICINE

Congenital disorders of glycosylation

(2010) Jaak Jaeken   Annals of the New York Academy of Sciences

New Substructure Filters for Removal of Pan Assay Interference Compounds (PAINS) from Screening Libraries and for Their Exclusion in Bioassays

(2010) Jonathan B. Baell et al.   JOURNAL OF MEDICINAL CHEMISTRY

Biological and Chemical Approaches to Diseases of Proteostasis Deficiency

(2009) Evan T. Powers et al.   Annual Review of Biochemistry

The clinical spectrum of phosphomannomutase 2 deficiency (CDG-Ia)

(2009) Stephanie Grünewald   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients

(2009) Hudson H. Freeze   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Functional analysis of three splicing mutations identified in the PMM2 gene: Toward a new therapy for congenital disorder of glycosylation type Ia

(2009) Ana I. Vega et al.   HUMAN MUTATION

Chemical and Biological Approaches Synergize to Ameliorate Protein-Folding Diseases

(2008) Ting-Wei Mu et al.   CELL

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

(2008) Angel L. Pey et al.   JOURNAL OF CLINICAL INVESTIGATION

A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity

(2007) Jian-Qiang Fan   BIOLOGICAL CHEMISTRY