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

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

A peptide-linked recombinant glucocerebrosidase for targeted neuronal delivery: Design, production, and assessment

(2016) Paul A. Gramlich et al.   JOURNAL OF BIOTECHNOLOGY

Review of miglustat for clinical management in Gaucher disease type 1

(2016) Can Ficicioglu   Therapeutics and Clinical Risk Management

Sustained Systemic Glucocerebrosidase Inhibition Induces Brain α-Synuclein Aggregation, Microglia and Complement C1q Activation in Mice

(2015) Emily M. Rocha et al.   ANTIOXIDANTS & REDOX SIGNALING

GBA deficiency promotes SNCA/α-synuclein accumulation through autophagic inhibition by inactivated PPP2A

(2015) Ting-Ting Du et al.   Autophagy

Eliglustat: A Review in Gaucher Disease Type 1

(2015) Lesley J. Scott   DRUGS

Fluorescence-Quenched Substrates for Live Cell Imaging of Human Glucocerebrosidase Activity

(2015) Anuj K. Yadav et al.   JOURNAL OF THE AMERICAN CHEMICAL SOCIETY

Selective loss of glucocerebrosidase activity in sporadic Parkinson’s disease and dementia with Lewy bodies

(2015) Davide Chiasserini et al.   Molecular Neurodegeneration

Lentiviral Gene Therapy Using Cellular Promoters Cures Type 1 Gaucher Disease in Mice

(2015) Maria Dahl et al.   MOLECULAR THERAPY

Mutant glucocerebrosidase in Gaucher disease recruits Hsp27 to the Hsp90 chaperone complex for proteasomal degradation

(2015) Chunzhang Yang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Ratiometric Two-Photon Fluorescent Probe for Quantitative Detection of β-Galactosidase Activity in Senescent Cells

(2014) Hyo Won Lee et al.   ANALYTICAL CHEMISTRY

Glucocerebrosidase deficits in sporadic Parkinson disease

(2014) Karen E Murphy et al.   Autophagy

Glucocerebrosidase is shaking up the synucleinopathies

(2014) Marina Siebert 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

Cognitive impairment in carriers of glucocerebrosidase gene mutation in Parkinson disease patients

(2014) Michalina Malec-Litwinowicz et al.   Neurologia i Neurochirurgia Polska

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

(2014) Franziska Richter et al.   Neurotherapeutics

Glucocerebrosidase mutations in Thai patients with Parkinson's disease

(2014) Teeratorn Pulkes et al.   PARKINSONISM & RELATED DISORDERS

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

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

Lysosomal Adaptation: How the Lysosome Responds to External Cues

(2014) C. Settembre et al.   Cold Spring Harbor Perspectives in Biology

Mitochondria and Quality Control Defects in a Mouse Model of Gaucher Disease—Links to Parkinson’s Disease

(2013) Laura D. Osellame et al.   Cell Metabolism

Atp13a2-deficient mice exhibit neuronal ceroid lipofuscinosis, limited α-synuclein accumulation and age-dependent sensorimotor deficits

(2013) Patrick J. Schultheis et al.   HUMAN MOLECULAR GENETICS

TFEB controls cellular lipid metabolism through a starvation-induced autoregulatory loop

(2013) Carmine Settembre et al.   NATURE CELL BIOLOGY

Effects of imiglucerase on the growth and metabolism of Gaucher disease type I patients: a systematic review

(2013) Divair Doneda et al.   Nutrition & Metabolism

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

Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies

(2013) S. Pablo Sardi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disruption of Protein Quality Control in Parkinson's Disease

(2013) C. Cook et al.   Cold Spring Harbor Perspectives in Medicine

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

MTORC1 functions as a transcriptional regulator of autophagy by preventing nuclear transport of TFEB

(2012) Jose A. Martina et al.   Autophagy

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

Velaglucerase Alfa for the Management of Type 1 Gaucher Disease

(2012) Jennifer L. Morris   CLINICAL THERAPEUTICS

A lysosome-to-nucleus signalling mechanism senses and regulates the lysosome via mTOR and TFEB

(2012) Carmine Settembre et al.   EMBO JOURNAL

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

Pharmacological chaperones facilitate the post-ER transport of recombinant N370S mutant β-glucocerebrosidase in plant cells: Evidence that N370S is a folding mutant

(2012) Gholamreza Babajani et al.   MOLECULAR GENETICS AND METABOLISM

Lysosome-dependent pathways as a unifying theme in Parkinson's disease

(2012) George K. Tofaris   MOVEMENT DISORDERS

Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage

(2012) Michael W.J. Cleeter et al.   NEUROCHEMISTRY INTERNATIONAL

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

Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease

(2012) L. M. Panicker et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Transcription Factor TFEB Links mTORC1 Signaling to Transcriptional Control of Lysosome Homeostasis

(2012) A. Roczniak-Ferguson et al.   Science Signaling

Chaperone-mediated autophagy: a unique way to enter the lysosome world

(2012) Susmita Kaushik et al.   TRENDS IN CELL BIOLOGY

Acid β-glucosidase mutants linked to gaucher disease, parkinson disease, and lewy body dementia alter α-synuclein processing

(2011) Valerie Cullen et al.   ANNALS OF NEUROLOGY

Microautophagy in mammalian cells: Revisiting a 40-year-old conundrum

(2011) Dalibor Mijaljica et al.   Autophagy

How I treat Gaucher disease

(2011) A. Zimran   BLOOD

Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies

(2011) Joseph R. Mazzulli et al.   CELL

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

Evaluation of Quinazoline Analogues as Glucocerebrosidase Inhibitors with Chaperone Activity

(2011) Juan J. Marugan et al.   JOURNAL OF MEDICINAL CHEMISTRY

Lysosomal accumulation of Trk protein in brain of GM1-gangliosidosis mouse and its restoration by chemical chaperone

(2011) Ayumi Takamura et al.   JOURNAL OF NEUROCHEMISTRY

Isofagomine In Vivo Effects in a Neuronopathic Gaucher Disease Mouse

(2011) Ying Sun et al.   PLoS One

CNS expression of glucocerebrosidase corrects  -synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy

(2011) S. P. Sardi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

TFEB Links Autophagy to Lysosomal Biogenesis

(2011) C. Settembre et al.   SCIENCE

Type 2 Gaucher disease: Phenotypic variation and genotypic heterogeneity

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

A monozygotic twin pair with highly discordant Gaucher phenotypes

(2010) M. Biegstraaten 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

Chaperone-mediated autophagy in protein quality control

(2010) Esperanza Arias et al.   CURRENT OPINION IN CELL BIOLOGY

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

(2010) Richie Khanna et al.   FEBS Journal

Eaten alive: a history of macroautophagy

(2010) Zhifen Yang et al.   NATURE CELL BIOLOGY

Ultrasensitive in situ visualization of active glucocerebrosidase molecules

(2010) Martin D Witte et al.   Nature Chemical Biology

The delivery of endocytosed cargo to lysosomes: Figure 1

(2009) J. Paul Luzio et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Promising results of the chaperone effect caused by iminosugars and aminocyclitol derivatives on mutant glucocerebrosidases causing Gaucher disease

(2009) Gessamí Sánchez-Ollé et al.   BLOOD CELLS MOLECULES AND DISEASES

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

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

Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: A biological link between Gaucher disease and parkinsonism

(2009) Amy B. Manning-Boğ et al.   NEUROTOXICOLOGY

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

Glycosidase inhibition: assessing mimicry of the transition state

(2009) Tracey M. Gloster et al.   ORGANIC & BIOMOLECULAR CHEMISTRY

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

(2008) Raphael Schiffmann et al.   ANNALS OF NEUROLOGY

Enhanced autophagy and mitochondrial aberrations in murine GM1-gangliosidosis

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

Principles of lysosomal membrane degradation

(2008) Heike Schulze et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA)

(2008) Kathleen S. Hruska et al.   HUMAN MUTATION

Autophagy fights disease through cellular self-digestion

(2008) Noboru Mizushima et al.   NATURE