Innovative strategies to treat protein misfolding in inborn errors of metabolism: pharmacological chaperones and proteostasis regulators

The Role of Protein Denaturation Energetics and Molecular Chaperones in the Aggregation and Mistargeting of Mutants Causing Primary Hyperoxaluria Type I

(2014) Noel Mesa-Torres et al.   PLoS One

Molecular Chaperone Functions in Protein Folding and Proteostasis

(2013) Yujin E. Kim et al.   Annual Review of Biochemistry

Gly161 mutations associated with Primary Hyperoxaluria Type I induce the cytosolic aggregation and the intracellular degradation of the apo-form of alanine:glyoxylate aminotransferase

(2013) Elisa Oppici et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Multiple mechanisms of action of pyridoxine in primary hyperoxaluria type 1

(2013) Sonia Fargue et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Autophagy Enhancer Carbamazepine Alleviates Memory Deficits and Cerebral Amyloid-β Pathology in a Mouse Model of Alzheimer's Disease

(2013) Lixi Li et al.   Current Alzheimer Research

Phenylbutyrate is a Multifaceted Drug that Exerts Neuroprotective Effects and Reverses the Alzheimer´s Disease-like Phenotype of a Commonly Used Mouse Model

(2013) Mar Cuadrado-Tejedor et al.   CURRENT PHARMACEUTICAL DESIGN

Phenylalanine Hydroxylase Misfolding and Pharmacological Chaperones

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

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

(2013) A. Jorge-Finnigan et al.   HUMAN MOLECULAR GENETICS

TFEB regulates lysosomal proteostasis

(2013) Wensi Song et al.   HUMAN MOLECULAR GENETICS

Correction of Cystathionine β-Synthase Deficiency in Mice by Treatment with Proteasome Inhibitors

(2013) Sapna Gupta et al.   HUMAN MUTATION

VX-809 corrects folding defects in cystic fibrosis transmembrane conductance regulator protein through action on membrane-spanning domain 1

(2013) Hong Yu Ren et al.   MOLECULAR BIOLOGY OF THE CELL

A Phase 2 study of migalastat hydrochloride in females with Fabry disease: Selection of population, safety and pharmacodynamic effects

(2013) R. Giugliani et al.   MOLECULAR GENETICS AND METABOLISM

Mechanism-based corrector combination restores ΔF508-CFTR folding and function

(2013) Tsukasa Okiyoneda et al.   Nature Chemical Biology

Diversity in the origins of proteostasis networks — a driver for protein function in evolution

(2013) Evan T. Powers et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Lysosomal storage diseases—the horizon expands

(2013) Rose-Mary Naaman Boustany   Nature Reviews Neurology

Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines

(2013) Heidi M Sampson et al.   Orphanet Journal of Rare Diseases

Migalastat HCl Reduces Globotriaosylsphingosine (Lyso-Gb3) in Fabry Transgenic Mice and in the Plasma of Fabry Patients

(2013) Brandy Young-Gqamana et al.   PLoS One

Remodeling the Proteostasis Network to Rescue Glucocerebrosidase Variants by Inhibiting ER-Associated Degradation and Enhancing ER Folding

(2013) Fan Wang et al.   PLoS One

Histone deacetylase inhibitors increase glucocerebrosidase activity in Gaucher disease by modulation of molecular chaperones

(2013) C. Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Human cystathionine β-synthase (CBS) contains two classes of binding sites forS-adenosylmethionine (SAM): complex regulation of CBS activity and stability by SAM

(2012) Angel L. Pey et al.   BIOCHEMICAL JOURNAL

Effect of the Disease-Causing R266K Mutation on the Heme and PLP Environments of Human Cystathionine β-Synthase

(2012) Aaron T. Smith et al.   BIOCHEMISTRY

Novel pharmacological chaperones that correct phenylketonuria in mice

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

Four of the Most Common Mutations in Primary Hyperoxaluria Type 1 Unmask the Cryptic Mitochondrial Targeting Sequence of Alanine:glyoxylate Aminotransferase Encoded by the Polymorphic Minor Allele

(2012) Sonia Fargue et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Pharmacological Enhancement of α-Glucosidase by the Allosteric Chaperone N-acetylcysteine

(2012) Caterina Porto et al.   MOLECULAR THERAPY

Structural characterization of a eukaryotic chaperone—the ribosome-associated complex

(2012) Christoph Leidig et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Safety and pharmacodynamic effects of a pharmacological chaperone on α-galactosidase A activity and globotriaosylceramide clearance in Fabry disease: report from two phase 2 clinical studies

(2012) Dominique P Germain et al.   Orphanet Journal of Rare Diseases

Chemical Chaperones Improve Protein Secretion and Rescue Mutant Factor VIII in Mice with Hemophilia A

(2012) Stefanie D. Roth et al.   PLoS One

The Pharmacological Chaperone AT2220 Increases Recombinant Human Acid α-Glucosidase Uptake and Glycogen Reduction in a Mouse Model of Pompe Disease

(2012) Richie Khanna et al.   PLoS One

Molecular mechanisms used by chaperones to reduce the toxicity of aberrant protein oligomers

(2012) B. Mannini et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Tafamidis, a potent and selective transthyretin kinetic stabilizer that inhibits the amyloid cascade

(2012) C. E. Bulawa et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Ribosome-associated chaperones as key players in proteostasis

(2012) Steffen Preissler et al.   TRENDS IN BIOCHEMICAL SCIENCES

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

Natural phenylalanine hydroxylase variants that confer a mild phenotype affect the enzyme's conformational stability and oligomerization equilibrium

(2011) Monica Cerreto et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Cofactors and metabolites as potential stabilizers of mitochondrial acyl-CoA dehydrogenases

(2011) Tânia G. Lucas et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Lacidipine Remodels Protein Folding and Ca2+ Homeostasis in Gaucher's Disease Fibroblasts: A Mechanism to Rescue Mutant Glucocerebrosidase

(2011) Fan Wang et al.   CHEMISTRY & BIOLOGY

Identification of a NBD1-Binding Pharmacological Chaperone that Corrects the Trafficking Defect of F508del-CFTR

(2011) Heidi M. Sampson et al.   CHEMISTRY & BIOLOGY

Advances in Characterization of Neuroprotective Peptide, Humanin

(2011) T. Arakawa et al.   CURRENT MEDICINAL CHEMISTRY

A pharmacogenetic approach to identify mutant forms of α-galactosidase a that respond to a pharmacological chaperone for Fabry disease

(2011) Xiaoyang Wu et al.   HUMAN MUTATION

Ex Vivoandin VivoEffects of Isofagomine on Acid β-Glucosidase Variants and Substrate Levels in Gaucher Disease

(2011) Ying Sun et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cyanoquinolines with Independent Corrector and Potentiator Activities Restore  Phe508-Cystic Fibrosis Transmembrane Conductance Regulator Chloride Channel Function in Cystic Fibrosis

(2011) P.-W. Phuan et al.   MOLECULAR PHARMACOLOGY

Small-molecule proteostasis regulators for protein conformational diseases

(2011) Barbara Calamini et al.   Nature Chemical Biology

Isofagomine In Vivo Effects in a Neuronopathic Gaucher Disease Mouse

(2011) Ying Sun et al.   PLoS One

Selective Inhibition of a Regulatory Subunit of Protein Phosphatase 1 Restores Proteostasis

(2011) P. Tsaytler et al.   SCIENCE

Results of a phase IIa study of VX-809, an investigational CFTR corrector compound, in subjects with cystic fibrosis homozygous for theF508del-CFTRmutation

(2011) J P Clancy et al.   THORAX

Role of low native state kinetic stability and interaction of partially unfolded states with molecular chaperones in the mitochondrial protein mistargeting associated with primary hyperoxaluria

(2010) Angel L. Pey et al.   AMINO ACIDS

Metabolic analysis of 13C-labeled pyruvate for noninvasive assessment of mitochondrial function

(2010) I-Chien Wu et al.   Annals of the New York Academy of Sciences

Phenylketonuria as a protein misfolding disease: The mutation pG46S in phenylalanine hydroxylase promotes self-association and fibril formation

(2010) João Leandro et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Human liver peroxisomal alanine:glyoxylate aminotransferase: Characterization of the two allelic forms and their pathogenic variants

(2010) Barbara Cellini et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant

(2010) Inna Bendikov-Bar et al.   BLOOD CELLS MOLECULES AND DISEASES

Induction of Molecular Chaperones as a Therapeutic Strategy for the Polyglutamine Diseases

(2010) Yoshitaka Nagai et al.   CURRENT PHARMACEUTICAL BIOTECHNOLOGY

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations

(2010) S E Flanagan et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

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

(2010) Richie Khanna et al.   FEBS Journal

Pah enu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo

(2010) Søren W. Gersting et al.   HUMAN MOLECULAR GENETICS

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

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

Rescue of Cystathionine β-Synthase (CBS) Mutants with Chemical Chaperones

(2010) Tomas Majtan et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Phenylketonuria as a model for protein misfolding diseases and for the development of next generation orphan drugs for patients with inborn errors of metabolism

(2010) Ania C. Muntau et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones

(2010) Jana Kopecká et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Pharmacological Chaperones Restore Function to MC4R Mutants Responsible for Severe Early-Onset Obesity

(2010) P. Rene et al.   JOURNAL OF PHARMACOLOGY AND EXPERIMENTAL THERAPEUTICS

Phenylketonuria

(2010) Nenad Blau et al.   LANCET

The Heat Shock Response: Life on the Verge of Death

(2010) Klaus Richter et al.   MOLECULAR CELL

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

Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population

(2010) Steven F. Dobrowolski et al.   MOLECULAR GENETICS AND METABOLISM

Correction of the  Phe508 Cystic Fibrosis Transmembrane Conductance Regulator Trafficking Defect by the Bioavailable Compound Glafenine

(2010) R. Robert et al.   MOLECULAR PHARMACOLOGY

Enhancement of proteasome activity by a small-molecule inhibitor of USP14

(2010) Byung-Hoon Lee et al.   NATURE

Molecular defects of the glycine 41 variants of alanine glyoxylate aminotransferase associated with primary hyperoxaluria type I

(2010) B. Cellini et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Protein Folding in the Cytoplasm and the Heat Shock Response

(2010) R. M. Vabulas et al.   Cold Spring Harbor Perspectives in Biology

Activation of Mutant Enzyme Function In Vivo by Proteasome Inhibitors and Treatments that Induce Hsp70

(2010) Laishram R. Singh et al.   PLoS Genetics

Biological and Chemical Approaches to Diseases of Proteostasis Deficiency

(2009) Evan T. Powers et al.   Annual Review of Biochemistry

Structure and Mechanism of Protein Stability Sensors: Chaperone Activity of Small Heat Shock Proteins

(2009) Hassane S. Mchaourab et al.   BIOCHEMISTRY

Structure and function of archaeal prefoldin, a co-chaperone of group II chaperonin

(2009) Akashi Ohtaki   Frontiers in Bioscience-Landmark

Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate

(2009) Lieke M. van der Velden et al.   HEPATOLOGY

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

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

Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

(2009) Friedrich K. Trefz et al.   JOURNAL OF PEDIATRICS

Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria

(2009) D.S. Froese et al.   MOLECULAR GENETICS AND METABOLISM

Reduced histone deacetylase 7 activity restores function to misfolded CFTR in cystic fibrosis

(2009) Darren M Hutt et al.   Nature Chemical Biology

Converging concepts of protein folding in vitro and in vivo

(2009) F Ulrich Hartl et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Loss of Function in Phenylketonuria Is Caused by Impaired Molecular Motions and Conformational Instability

(2008) Søren W. Gersting et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria

(2008) Phillip Lee et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

CFTR Function and Prospects for Therapy

(2008) John R. Riordan   Annual Review of Biochemistry

Correctors promote folding of the CFTR in the endoplasmic reticulum

(2008) Tip W. Loo et al.   BIOCHEMICAL JOURNAL

Chemical and Biological Approaches Synergize to Ameliorate Protein-Folding Diseases

(2008) Ting-Wei Mu et al.   CELL

Isofagomine Induced Stabilization of Glucocerebrosidase

(2008) Gregory J. Kornhaber et al.   CHEMBIOCHEM

Pharmacokinetics of Sapropterin in Patients with Phenylketonuria

(2008) François Feillet et al.   CLINICAL PHARMACOKINETICS

The potential action of galactose as a “chemical chaperone”: Increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient

(2008) Anna Caciotti et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Pyruvate dehydrogenase deficiency: identification of a novel mutation in the PDHA1 gene which responds to amino acid supplementation

(2008) Maria João Silva et al.   EUROPEAN JOURNAL OF PEDIATRICS

The unfolded protein response in hereditary haemochromatosis

(2008) S.F. de Almeida et al.   JOURNAL OF CELLULAR AND MOLECULAR MEDICINE

Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria

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

Protein Misfolding in Conformational Disorders: Rescue of Folding Defects and Chemical Chaperoning

(2008) Paula Leandro et al.   MINI-REVIEWS IN MEDICINAL CHEMISTRY

The structure of CCT–Hsc70NBD suggests a mechanism for Hsp70 delivery of substrates to the chaperonin

(2008) Jorge Cuéllar et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Modulation of the Activity of Newly Synthesized Human Phenylalanine Hydroxylase Mutant Proteins by Low-Molecular-Weight Compounds

(2008) Cátia Nascimento et al.   PROTEIN JOURNAL

Adapting Proteostasis for Disease Intervention

(2008) William E. Balch et al.   SCIENCE

A counterintuitive approach to treat enzyme deficiencies: use of enzyme inhibitors for restoring mutant enzyme activity

(2007) Jian-Qiang Fan   BIOLOGICAL CHEMISTRY

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

(2007) Marcel R. Zurflüh et al.   HUMAN MUTATION