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

Novel pharmacological chaperones that correct phenylketonuria in mice

(2012) Sandra Santos-Sierra et al.   HUMAN MOLECULAR GENETICS

Pharmacological chaperone therapy for Fabry disease

(2012) Satoshi ISHII   PROCEEDINGS OF THE JAPAN ACADEMY SERIES B-PHYSICAL AND BIOLOGICAL SCIENCES

Pharmacological chaperone therapy for Gaucher disease: a patent review

(2011) Juan M Benito et al.   EXPERT OPINION ON THERAPEUTIC PATENTS

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

Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

(2011) Giuseppina Andreotti et al.   Orphanet Journal of Rare Diseases

Prediction of the responsiveness to pharmacological chaperones: lysosomal human alpha-galactosidase, a case of study

(2010) Giuseppina Andreotti et al.   Orphanet Journal of Rare Diseases

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

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

The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

(2009) John J. Flanagan et al.   HUMAN MUTATION

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

Mammalian Phosphomannomutase PMM1 Is the Brain IMP-sensitive Glucose-1,6-bisphosphatase

(2008) Maria Veiga-da-Cunha et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Pharmacological Inhibition of AMP-Deaminase in Rat Cardiac Myocytes

(2008) T. Borkowski et al.   NUCLEOSIDES NUCLEOTIDES & NUCLEIC ACIDS