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

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations

(2010) D Hofer et al.   CLINICAL GENETICS

DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human GM1-gangliosidosis fibroblasts

(2010) Katrin Fantur et al.   MOLECULAR GENETICS AND METABOLISM

Defective CFTR induces aggresome formation and lung inflammation in cystic fibrosis through ROS-mediated autophagy inhibition

(2010) Alessandro Luciani et al.   NATURE CELL BIOLOGY

Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability

(2009) Raquel L. Lieberman et al.   BIOCHEMISTRY

Treating lysosomal storage diseases with pharmacological chaperones: from concept to clinics

(2009) Giancarlo Parenti   EMBO Molecular Medicine

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

Structural aspects of therapeutic enzymes to treat metabolic disorders

(2009) Tse Siang Kang et al.   HUMAN MUTATION

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid β-galactosidase

(2009) Doris Hofer et al.   HUMAN MUTATION

GM1-Ganglioside Accumulation at the Mitochondria-Associated ER Membranes Links ER Stress to Ca2+-Dependent Mitochondrial Apoptosis

(2009) Renata Sano et al.   MOLECULAR CELL

Inhibition of autophagosome formation restores mitochondrial function in mucolipidosis II and III skin fibroblasts

(2009) Takanobu Otomo et al.   MOLECULAR GENETICS AND METABOLISM

Enhanced autophagy and mitochondrial aberrations in murine GM1-gangliosidosis

(2008) Ayumi Takamura et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Structural Basis for Sorting Mechanism of p62 in Selective Autophagy

(2008) Yoshinobu Ichimura et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

GM1 gangliosidosis: Review of clinical, molecular, and therapeutic aspects

(2008) Nicola Brunetti-Pierri et al.   MOLECULAR GENETICS AND METABOLISM