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

Solving Glycosylation Disorders: Fundamental Approaches Reveal Complicated Pathways

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

Mannose metabolism: More than meets the eye

(2014) Vandana Sharma et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Mannose supplements induce embryonic lethality and blindness in phosphomannose isomerase hypomorphic mice

(2014) Vandana Sharma et al.   FASEB JOURNAL

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

Phenylalanine Hydroxylase Misfolding and Pharmacological Chaperones

(2013) Jarl Underhaug et al.   CURRENT TOPICS IN MEDICINAL CHEMISTRY

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

TMEM165 Deficiency Causes a Congenital Disorder of Glycosylation

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

Diseases of glycosylation beyond classical congenital disorders of glycosylation

(2012) Thierry Hennet   BIOCHIMICA ET BIOPHYSICA ACTA-GENERAL SUBJECTS

Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects

(2012) Eva Richard et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

A zebrafish model of PMM2-CDG reveals altered neurogenesis and a substrate-accumulation mechanism for N-linked glycosylation deficiency

(2012) Abigail Cline et al.   MOLECULAR BIOLOGY OF THE CELL

Mild Clinical and Biochemical Phenotype in Two Patients with PMM2-CDG (Congenital Disorder of Glycosylation Ia)

(2011) M. Casado et al.   CEREBELLUM

Expression analysis revealing destabilizing mutations in phosphomannomutase 2 deficiency (PMM2-CDG)

(2011) Ana Isabel Vega et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

(2011) Anette Schneider et al.   NATURE MEDICINE

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

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

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