Small Molecule Chaperones for the Treatment of Gaucher Disease and GBA1-Associated Parkinson Disease

Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations

(2020) Stephen Mullin et al.   JAMA Neurology

Ambroxol as a novel disease-modifying treatment for Parkinson’s disease dementia: protocol for a single-centre, randomized, double-blind, placebo-controlled trial

(2019) C. R. A. Silveira et al.   BMC Neurology

Drosophila melanogaster Mutated in its GBA1b Ortholog Recapitulates Neuronopathic Gaucher Disease

(2019) Cabasso et al.   Journal of Clinical Medicine

Pharmacologic properties of high-dose ambroxol in four patients with Gaucher disease and myoclonic epilepsy

(2019) Yoon-Myung Kim et al.   JOURNAL OF MEDICAL GENETICS

Substrate reduction therapy for GBA1 ‐associated Parkinsonism: Are we betting on the wrong mouse?

(2019) Ellen Sidransky et al.   MOVEMENT DISORDERS

A modulator of wild-type glucocerebrosidase improves pathogenic phenotypes in dopaminergic neuronal models of Parkinson’s disease

(2019) Lena F. Burbulla et al.   Science Translational Medicine

The additive effect on the antiepileptic treatment of ambroxol in type 3 Gaucher patient. The early observation

(2018) Lukasz Pawlinski et al.   BLOOD CELLS MOLECULES AND DISEASES

Should eliglustat be first line therapy for patients with type 1 Gaucher disease? Definitions of safety and efficacy

(2018) Ari Zimran et al.   BLOOD CELLS MOLECULES AND DISEASES

Safety, efficacy, and authorization of eliglustat as a first-line therapy in Gaucher disease type 1

(2018) Pramod K. Mistry et al.   BLOOD CELLS MOLECULES AND DISEASES

Glucocerebrosidase and Parkinson Disease: Molecular, Clinical, and Therapeutic Implications

(2018) Roberta Balestrino et al.   NEUROSCIENTIST

Three-Dimensional in Vitro Cell Culture Models in Drug Discovery and Drug Repositioning

(2018) Sigrid A. Langhans   Frontiers in Pharmacology

Outcomes after 8 Years of Eliglustat Therapy for Gaucher Disease Type 1: Final Results from the Phase 2 Trial

(2018) Elena Lukina et al.   AMERICAN JOURNAL OF HEMATOLOGY

Neurological effects of glucocerebrosidase gene mutations

(2018) S. Mullin et al.   EUROPEAN JOURNAL OF NEUROLOGY

Glucosylsphingosine Promotes α-Synuclein Pathology in Mutant GBA-Associated Parkinson's Disease

(2017) Yumiko V. Taguchi et al.   JOURNAL OF NEUROSCIENCE

Parkinson's Disease Is Not Simply a Prion Disorder

(2017) D. James Surmeier et al.   JOURNAL OF NEUROSCIENCE

Oral ambroxol increases brain glucocerebrosidase activity in a nonhuman primate

(2017) Anna Migdalska-Richards et al.   SYNAPSE

Parkinson disease

(2017) Werner Poewe et al.   Nature Reviews Disease Primers

Ambroxol effects in glucocerebrosidase and α-synuclein transgenic mice

(2016) Anna Migdalska-Richards et al.   ANNALS OF NEUROLOGY

Inhibitor versus chaperone behaviour of d -fagomine, DAB and LAB sp 2 -iminosugar conjugates against glycosidases: A structure–activity relationship study in Gaucher fibroblasts

(2016) Teresa Mena-Barragán et al.   EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY

Progress and potential of non-inhibitory small molecule chaperones for the treatment of Gaucher disease and its implications for Parkinson disease

(2016) Olive Jung et al.   Expert Review of Proteomics

A New Glucocerebrosidase Chaperone Reduces  -Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism

(2016) E. Aflaki et al.   JOURNAL OF NEUROSCIENCE

Activation of  -Glucocerebrosidase Reduces Pathological  -Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons

(2016) J. R. Mazzulli et al.   JOURNAL OF NEUROSCIENCE

Docking study and biological evaluation of pyrrolidine-based iminosugars as pharmacological chaperones for Gaucher disease

(2016) Atsushi Kato et al.   ORGANIC & BIOMOLECULAR CHEMISTRY

α-Synuclein–induced lysosomal dysfunction occurs through disruptions in protein trafficking in human midbrain synucleinopathy models

(2016) Joseph R. Mazzulli et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Role of Chaperone-Mediated Autophagy Dysfunctions in the Pathogenesis of Parkinson’s Disease

(2016) Gessica Sala et al.   Frontiers in Molecular Neuroscience

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

(2016) Aya Narita et al.   Annals of Clinical and Translational Neurology

Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models

(2016) Alvaro Sanchez-Martinez et al.   Scientific Reports

Lysosomal storage and impaired autophagy lead to inflammasome activation in Gaucher macrophages

(2015) Elma Aflaki et al.   AGING CELL

Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model

(2015) Nupur Dasgupta et al.   HUMAN MOLECULAR GENETICS

The clinical management of type 2 Gaucher disease

(2015) Karin Weiss et al.   MOLECULAR GENETICS AND METABOLISM

Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells

(2015) Giulia Ambrosi et al.   NEUROBIOLOGY OF DISEASE

Eliglustat tartrate for the treatment of adults with type 1 Gaucher disease

(2015) Lunawati Bennett et al.   Drug Design Development and Therapy

Pharmacological Chaperones and Coenzyme Q10 Treatment Improves Mutant β-Glucocerebrosidase Activity and Mitochondrial Function in Neuronopathic Forms of Gaucher Disease

(2015) Mario de la Mata et al.   Scientific Reports

Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson’s disease

(2014) Karen E. Murphy et al.   BRAIN

Augmentation of phenotype in a transgenic Parkinson mouse heterozygous for a Gaucher mutation

(2014) Ianai Fishbein et al.   BRAIN

Ambroxol improves lysosomal biochemistry in glucocerebrosidase mutation-linked Parkinson disease cells

(2014) Alisdair McNeill et al.   BRAIN

The NCS-LSD cohort study: a description of the methods and analyses used to assess the long-term effectiveness of enzyme replacement therapy and substrate reduction therapy in patients with lysosomal storage disorders

(2014) W. E. Henley et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A GCase Chaperone Improves Motor Function in a Mouse Model of Synucleinopathy

(2014) Franziska Richter et al.   Neurotherapeutics

Macrophage Models of Gaucher Disease for Evaluating Disease Pathogenesis and Candidate Drugs

(2014) E. Aflaki et al.   Science Translational Medicine

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

A Multicenter Study of Glucocerebrosidase Mutations in Dementia With Lewy Bodies

(2013) Michael A. Nalls et al.   JAMA Neurology

Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains

(2012) Matthew E. Gegg et al.   ANNALS OF NEUROLOGY

Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease

(2012) Ari Zimran et al.   BLOOD CELLS MOLECULES AND DISEASES

Ambroxol as a pharmacological chaperone for mutant glucocerebrosidase

(2012) Inna Bendikov-Bar et al.   BLOOD CELLS MOLECULES AND DISEASES

The chaperone activity and toxicity of ambroxol on Gaucher cells and normal mice

(2012) Zhuo Luan et al.   BRAIN & DEVELOPMENT

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds

(2012) Gustavo Tiscornia et al.   HUMAN MOLECULAR GENETICS

Discovery, Structure–Activity Relationship, and Biological Evaluation of Noninhibitory Small Molecule Chaperones of Glucocerebrosidase

(2012) Samarjit Patnaik et al.   JOURNAL OF MEDICINAL CHEMISTRY

The link between the GBA gene and parkinsonism

(2012) Ellen Sidransky et al.   LANCET NEUROLOGY

High Throughput Screening for Small Molecule Therapy for Gaucher Disease Using Patient Tissue as the Source of Mutant Glucocerebrosidase

(2012) Ehud Goldin et al.   PLoS One

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

α-Synuclein Interacts with Glucocerebrosidase Providing a Molecular Link between Parkinson and Gaucher Diseases

(2011) Thai Leong Yap et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Isofagomine In Vivo Effects in a Neuronopathic Gaucher Disease Mouse

(2011) Ying Sun et al.   PLoS One

Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease

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

Type 2 Gaucher disease: Phenotypic variation and genotypic heterogeneity

(2010) N. Gupta et al.   BLOOD CELLS MOLECULES AND DISEASES

A Fluorescent sp2-Iminosugar With Pharmacological Chaperone Activity for Gaucher Disease: Synthesis and Intracellular Distribution Studies

(2010) Zhuo Luan  et al.   CHEMBIOCHEM

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

(2010) Richie Khanna et al.   FEBS Journal

Chaperone Activity of Bicyclic Nojirimycin Analogues for Gaucher Mutations in Comparison withN-(n-nonyl)Deoxynojirimycin

(2009) Zhuo Luan et al.   CHEMBIOCHEM

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

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

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

(2009) E. Sidransky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Randomized, controlled trial of miglustat in Gaucher's disease type 3

(2008) Raphael Schiffmann et al.   ANNALS OF NEUROLOGY