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

Novel pharmacological chaperones that correct phenylketonuria in mice

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

Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice

(2012) Elfrida R Benjamin et al.   MOLECULAR THERAPY

Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

(2012) David Coelho et al.   NATURE GENETICS

Identification and Characterization of Pharmacological Chaperones to Correct Enzyme Deficiencies in Lysosomal Storage Disorders

(2011) Kenneth J. Valenzano et al.   ASSAY AND DRUG DEVELOPMENT TECHNOLOGIES

Fast docking using the CHARMM force field with EADock DSS

(2011) Aurélien Grosdidier et al.   JOURNAL OF COMPUTATIONAL CHEMISTRY

SwissDock, a protein-small molecule docking web service based on EADock DSS

(2011) A. Grosdidier et al.   NUCLEIC ACIDS RESEARCH

Long-Term Follow-Up of Bezafibrate Treatment in Patients With the Myopathic Form of Carnitine Palmitoyltransferase 2 Deficiency

(2010) J P Bonnefont et al.   CLINICAL PHARMACOLOGY & THERAPEUTICS

The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of β-glucosidase

(2010) Richie Khanna et al.   FEBS Journal

Functional and structural analysis of five mutations identified in methylmalonic aciduria cbIB type

(2010) Ana Jorge-Finnigan et al.   HUMAN MUTATION

Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2

(2010) Ana C. Calvo et al.   JOURNAL OF NEUROCHEMISTRY

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

Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder

(2010) D.S. Froese et al.   MOLECULAR GENETICS AND METABOLISM

Pharmacology and Pharmacogenetics of Chemotherapeutic Agents

(2009) Shaheenah Dawood et al.   CANCER INVESTIGATION

The pharmacological chaperone 1-deoxygalactonojirimycin increases α-galactosidase A levels in Fabry patient cell lines

(2009) E. R. Benjamin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

(2009) Frank Rutsch et al.   NATURE GENETICS

Evidence for catabolic pathway of propionate metabolism in CNS: expression pattern of methylmalonyl-CoA mutase and propionyl-CoA carboxylase alpha-subunit in developing and adult rat brain

(2009) D. Ballhausen et al.   NEUROSCIENCE

Drug development and the cellular quality control system

(2009) P. Michael Conn et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

Functional Characterization and Mutation Analysis of Human ATP:Cob(I)alamin Adenosyltransferase†

(2008) Chenguang Fan et al.   BIOCHEMISTRY

Misfolding of the Cystic Fibrosis Transmembrane Conductance Regulator and Disease†

(2008) Joanne C. Cheung et al.   BIOCHEMISTRY

Causes of and diagnostic approach to methylmalonic acidurias

(2008) B. Fowler et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Adenosyltransferase tailors and delivers coenzyme B12

(2008) Dominique Padovani et al.   Nature Chemical Biology

Gene Identification for the cblD Defect of Vitamin B12Metabolism

(2008) David Coelho et al.   NEW ENGLAND JOURNAL OF MEDICINE