Proteostasis regulators modulate proteasomal activity and gene expression to attenuate multiple phenotypes in Fabry disease

Mutation-specific Fabry disease patient-derived cell model to evaluate the amenability to chaperone therapy

(2019) Malte Lenders et al.   JOURNAL OF MEDICAL GENETICS

Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment

(2018) S.J. van der Veen et al.   MOLECULAR GENETICS AND METABOLISM

Population Pharmacokinetic Analysis of Bortezomib in Pediatric Leukemia Patients: Model-Based Support for Body Surface Area-Based Dosing Over the 2- to 16-Year Age Range

(2017) Michael J. Hanley et al.   JOURNAL OF CLINICAL PHARMACOLOGY

Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease

(2017) Albina Nowak et al.   MOLECULAR GENETICS AND METABOLISM

Regulating Secretory Proteostasis through the Unfolded Protein Response: From Function to Therapy

(2017) Lars Plate et al.   TRENDS IN CELL BIOLOGY

Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises

(2017) Fedah E. Mohamed et al.   Frontiers in Pharmacology

Migalastat: First Global Approval

(2016) Anthony Markham   DRUGS

Lysosomal glycosphingolipid catabolism by acid ceramidase: formation of glycosphingoid bases during deficiency of glycosidases

(2016) Maria J. Ferraz et al.   FEBS LETTERS

The validation of pharmacogenetics for the identification of Fabry patients to be treated with migalastat

(2016) Elfrida R. Benjamin et al.   GENETICS IN MEDICINE

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

(2016) Derralynn A Hughes et al.   JOURNAL OF MEDICAL GENETICS

A systems biology approach reveals new endoplasmic reticulum-associated targets for the correction of the ATP7B mutant causing Wilson disease

(2016) Mafalda Concilli et al.   Metallomics

Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses

(2016) Thomas Kirkegaard et al.   Science Translational Medicine

Small molecule proteostasis regulators that reprogram the ER to reduce extracellular protein aggregation

(2016) Lars Plate et al.   eLife

Lyso-globotriaosylceramide downregulates KCa3.1 channel expression to inhibit collagen synthesis in fibroblasts

(2015) Ju Yeon Choi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Increased glycolipid storage produced by the inheritance of a complex intronic haplotype in the α-galactosidase A (GLA) gene

(2015) Javier Gervas-Arruga et al.   BMC GENETICS

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease

(2015) Jan Lukas et al.   HUMAN MUTATION

Ibuprofen rescues mutant cystic fibrosis transmembrane conductance regulator trafficking

(2015) Graeme W. Carlile et al.   Journal of Cystic Fibrosis

Enzyme Enhancers for the Treatment of Fabry and Pompe Disease

(2015) Jan Lukas et al.   MOLECULAR THERAPY

Amino-terminal arginylation targets endoplasmic reticulum chaperone BiP for autophagy through p62 binding

(2015) Hyunjoo Cha-Molstad et al.   NATURE CELL BIOLOGY

WikiPathways: capturing the full diversity of pathway knowledge

(2015) Martina Kutmon et al.   NUCLEIC ACIDS RESEARCH

Unravelling druggable signalling networks that control F508del-CFTR proteostasis

(2015) Ramanath Narayana Hegde et al.   eLife

Gene Mutations Versus Clinically Relevant Phenotypes: Lyso-Gb3 Defines Fabry Disease

(2014) M. Niemann et al.   Circulation-Cardiovascular Genetics

The proteasome inhibitor bortezomib reduced cholesterol accumulation in fibroblasts from Niemann-Pick type C patients carrying missense mutations

(2014) Judit Macías-Vidal et al.   FEBS Journal

An intronic haplotype in α galactosidase A is associated with reduced mRNA expression in males with cryptogenic stroke

(2014) David A. Zeevi et al.   GENE

Endoplasmic Reticulum-associated Degradation of Niemann-Pick C1

(2014) Naoe Nakasone et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Lysosomal exocytosis and lipid storage disorders

(2014) Mohammad Ali Samie et al.   JOURNAL OF LIPID RESEARCH

Role of Nrf2 in Oxidative Stress and Toxicity

(2013) Qiang Ma   Annual Review of Pharmacology and Toxicology

Targeting unfolded protein response signaling pathways to ameliorate protein misfolding diseases

(2013) Lisa M Ryno et al.   CURRENT OPINION IN CHEMICAL BIOLOGY

Fabry_CEP: a tool to identify Fabry mutations responsive to pharmacological chaperones

(2013) Marco Cammisa et al.   Orphanet Journal of Rare Diseases

Pioglitazone Improves Reversal Learning and Exerts Mixed Cerebrovascular Effects in a Mouse Model of Alzheimer’s Disease with Combined Amyloid-β and Cerebrovascular Pathology

(2013) Panayiota Papadopoulos et al.   PLoS One

hLGDB: a database of human lysosomal genes and their regulation

(2013) Alessandro Brozzi et al.   Database-The Journal of Biological Databases and Curation

Stress-Independent Activation of XBP1s and/or ATF6 Reveals Three Functionally Diverse ER Proteostasis Environments

(2013) Matthew D. Shoulders et al.   Cell Reports

Functional Characterisation of Alpha-Galactosidase A Mutations as a Basis for a New Classification System in Fabry Disease

(2013) Jan Lukas et al.   PLoS Genetics

Development of proteasome inhibitors as research tools and cancer drugs

(2012) Alfred L. Goldberg   JOURNAL OF CELL BIOLOGY

IRE1 directs proteasomal and lysosomal degradation of misfolded rhodopsin

(2012) Wei-Chieh Chiang et al.   MOLECULAR BIOLOGY OF THE CELL

Inhibition of Endoplasmic Reticulum-associated Degradation Rescues Native Folding in Loss of Function Protein Misfolding Diseases

(2011) Fan Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Defining human ERAD networks through an integrative mapping strategy

(2011) John C. Christianson et al.   NATURE CELL BIOLOGY

Small-molecule proteostasis regulators for protein conformational diseases

(2011) Barbara Calamini et al.   Nature Chemical Biology

Histone deacetylase inhibitor treatment dramatically reduces cholesterol accumulation in Niemann-Pick type C1 mutant human fibroblasts

(2011) N. H. Pipalia et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Chemical and Biological Approaches for Adapting Proteostasis to Ameliorate Protein Misfolding and Aggregation Diseases-Progress and Prognosis

(2011) S. L. Lindquist et al.   Cold Spring Harbor Perspectives in Biology

Ca2+Homeostasis Modulation Enhances the Amenability of L444P Glucosylcerebrosidase to Proteostasis Regulation in Patient-Derived Fibroblasts

(2010) Fan Wang et al.   ACS Chemical Biology

The proteasome and its regulatory roles in gene expression

(2010) Jaechan Kwak et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

Feedback regulation of proteasome gene expression and its implications in cancer therapy

(2010) Youming Xie   CANCER AND METASTASIS REVIEWS

Pharmacokinetic and pharmacodynamic study of two doses of bortezomib in patients with relapsed multiple myeloma

(2010) Donna E. Reece et al.   CANCER CHEMOTHERAPY AND PHARMACOLOGY

Endoplasmic Reticulum Stress As a Therapeutic Target in Cardiovascular Disease

(2010) Tetsuo Minamino et al.   CIRCULATION RESEARCH

Globotriaosylsphingosine actions on human glomerular podocytes: implications for Fabry nephropathy

(2010) M. D. Sanchez-Nino et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Fabry disease

(2010) Dominique P Germain   Orphanet Journal of Rare Diseases

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

(2009) Giancarlo Parenti   EMBO Molecular Medicine

Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onsetGLAmutation c.936+919G>A (IVS4+919G>A)

(2009) Wuh-Liang Hwu et al.   HUMAN MUTATION

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

Rescue of mutant α-galactosidase A in the endoplasmic reticulum by 1-deoxygalactonojirimycin leads to trafficking to lysosomes

(2008) Ryoji Hamanaka et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Chemical and Biological Approaches Synergize to Ameliorate Protein-Folding Diseases

(2008) Ting-Wei Mu et al.   CELL

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

(2008) J. M. Aerts et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Partial Restoration of Mutant Enzyme Homeostasis in Three Distinct Lysosomal Storage Disease Cell Lines by Altering Calcium Homeostasis

(2008) Ting-Wei Mu et al.   PLOS BIOLOGY