Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations

Late-onset Krabbe disease is predominant in Japan and its mutant precursor protein undergoes more effective processing than the infantile-onset form

(2013) Mohammad Arif Hossain et al.   GENE

A high-throughput screening assay using Krabbe disease patient cells

(2012) Jameson Ribbens et al.   ANALYTICAL BIOCHEMISTRY

Therapeutic chaperone effect of N-Octyl 4-Epi-β-valienamine on murine GM1-gangliosidosis

(2012) Yoshiyuki Suzuki et al.   MOLECULAR GENETICS AND METABOLISM

Pharmacological chaperone therapy for Fabry disease

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

A high throughput glucocerebrosidase assay using the natural substrate glucosylceramide

(2011) Omid Motabar et al.   ANALYTICAL AND BIOANALYTICAL CHEMISTRY

Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency

(2011) Katsumi Higaki et al.   HUMAN MUTATION

Biochemical and structural study on a S529V mutant acid α-glucosidase responsive to pharmacological chaperones

(2011) Youichi Tajima et al.   JOURNAL OF HUMAN GENETICS

Evaluation of Quinazoline Analogues as Glucocerebrosidase Inhibitors with Chaperone Activity

(2011) Juan J. Marugan et al.   JOURNAL OF MEDICINAL CHEMISTRY

Insights into Krabbe disease from structures of galactocerebrosidase

(2011) J. E. Deane et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular Characterization of Mutations That Cause Globoid Cell Leukodystrophy and Pharmacological Rescue Using Small Molecule Chemical Chaperones

(2010) W. C. Lee et al.   JOURNAL OF NEUROSCIENCE

An open-label Phase I/II clinical trial of pyrimethamine for the treatment of patients affected with chronic GM2 gangliosidosis (Tay–Sachs or Sandhoff variants)

(2010) Joe T.R. Clarke et al.   MOLECULAR GENETICS AND METABOLISM

Identification and Characterization of Ambroxol as an Enzyme Enhancement Agent for Gaucher Disease

(2009) Gustavo H. B. Maegawa et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Molecular interaction of imino sugars with human α-galactosidase: Insight into the mechanism of complex formation and pharmacological chaperone action in Fabry disease

(2009) Kanako Sugawara et al.   MOLECULAR GENETICS AND METABOLISM

Chemical and Biological Approaches Synergize to Ameliorate Protein-Folding Diseases

(2008) Ting-Wei Mu et al.   CELL