Development of targeted therapies for Parkinson’s disease and related synucleinopathies

Gangliosides protection against lysosomal pathology of synucleinopathies

(2014) Jianshe Wei et al.   Autophagy

Eliglustat tartrate

(2014) J.A. Shayman   DRUGS OF THE FUTURE

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

(2014) Franziska Richter et al.   Neurotherapeutics

β-Glucosidase 2 (GBA2) Activity and Imino Sugar Pharmacology

(2013) Christina M. Ridley et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification of Niemann-Pick C1 disease biomarkers through sphingolipid profiling

(2013) Martin Fan et al.   JOURNAL OF LIPID RESEARCH

Parkinsonism syndrome in heterozygotes for Niemann–Pick C1

(2013) Hans H. Kluenemann et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Ethylenedioxy-PIP2 Oxalate Reduces Ganglioside Storage in Juvenile Sandhoff Disease Mice

(2013) Julian R. Arthur et al.   NEUROCHEMICAL RESEARCH

Expression of Human Gaucher Disease Gene GBA Generates Neurodevelopmental Defects and ER Stress in Drosophila Eye

(2013) Takahiro Suzuki et al.   PLoS One

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

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

Long-term efficacy of miglustat in paediatric patients with Niemann-Pick disease type C

(2012) Y. H. Chien et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

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

Miglustat Improves Purkinje Cell Survival and Alters Microglial Phenotype in Feline Niemann-Pick Disease Type C

(2012) Veronika M. Stein et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Deficiency of ganglioside GM1 correlates with Parkinson's disease in mice and humans

(2012) Gusheng Wu et al.   JOURNAL OF NEUROSCIENCE RESEARCH

A randomized, controlled, delayed start trial of GM1 ganglioside in treated Parkinson's disease patients

(2012) Jay S. Schneider et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Iminosugar-based inhibitors of glucosylceramide synthase prolong survival but paradoxically increase brain glucosylceramide levels in Niemann–Pick C mice

(2012) Jennifer B. Nietupski et al.   MOLECULAR GENETICS AND METABOLISM

Membrane-bound α-synuclein interacts with glucocerebrosidase and inhibits enzyme activity

(2012) Thai Leong Yap et al.   MOLECULAR GENETICS AND METABOLISM

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

Systemic Delivery of a Glucosylceramide Synthase Inhibitor Reduces CNS Substrates and Increases Lifespan in a Mouse Model of Type 2 Gaucher Disease

(2012) Mario A. Cabrera-Salazar et al.   PLoS One

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

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

Property-based design of a glucosylceramide synthase inhibitor that reduces glucosylceramide in the brain

(2011) Scott D. Larsen et al.   JOURNAL OF LIPID RESEARCH

Molecular Basis for the Glycosphingolipid-Binding Specificity of α-Synuclein: Key Role of Tyrosine 39 in Membrane Insertion

(2011) Jacques Fantini et al.   JOURNAL OF MOLECULAR BIOLOGY

 -Syn Suppression Reverses Synaptic and Memory Defects in a Mouse Model of Dementia with Lewy Bodies

(2011) Y. Lim et al.   JOURNAL OF NEUROSCIENCE

Therapeutic Strategies for Gaucher Disease: Miglustat (NB-DNJ) as a Pharmacological Chaperone for Glucocerebrosidase and the Different Thermostability of Velaglucerase Alfa and Imiglucerase

(2011) Olga Abian et al.   MOLECULAR PHARMACEUTICS

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond

(2011) Tamar Shachar et al.   MOVEMENT DISORDERS

Parkinson's disease and α-synuclein expression

(2011) Michael J. Devine et al.   MOVEMENT DISORDERS

Iminosugar-Based Inhibitors of Glucosylceramide Synthase Increase Brain Glycosphingolipids and Survival in a Mouse Model of Sandhoff Disease

(2011) Karen M. Ashe et al.   PLoS One

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

Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders

(2010) Ozlem Goker-Alpan et al.   ACTA NEUROPATHOLOGICA

Clearance of Mutant Proteins as a Therapeutic Target in Neurodegenerative Diseases

(2010) Dimitri Krainc   ARCHIVES OF NEUROLOGY

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1

(2010) E. Lukina et al.   BLOOD

Improvement in hematological, visceral, and skeletal manifestations of Gaucher disease type 1 with oral eliglustat tartrate (Genz-112638) treatment: 2-year results of a phase 2 study

(2010) E. Lukina et al.   BLOOD

Characterization of the ERAD process of the L444P mutant glucocerebrosidase variant

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

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

(2010) Richie Khanna et al.   FEBS Journal

Pathophysiology of neuropathic lysosomal storage disorders

(2010) Cinzia Maria Bellettato et al.   JOURNAL OF INHERITED METABOLIC DISEASE

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

Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs

(2010) Etty Osher et al.   MOLECULAR GENETICS AND METABOLISM

Protective Role of Endogenous Gangliosides for Lysosomal Pathology in a Cellular Model of Synucleinopathies

(2009) Jianshe Wei et al.   AMERICAN JOURNAL OF PATHOLOGY

Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability

(2009) Raquel L. Lieberman et al.   BIOCHEMISTRY

Design, Synthesis, and Biological Evaluation of Enantiomeric β-N-Acetylhexosaminidase Inhibitors LABNAc and DABNAc as Potential Agents against Tay-Sachs and Sandhoff Disease

(2009) J. S. Shane Rountree et al.   ChemMedChem

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment

(2009) Barbara E Shapiro et al.   GENETICS IN MEDICINE

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

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

Substrate deprivation therapy in juvenile Sandhoff disease

(2009) S. B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

Chronic Cyclodextrin Treatment of Murine Niemann-Pick C Disease Ameliorates Neuronal Cholesterol and Glycosphingolipid Storage and Disease Progression

(2009) Cristin D. Davidson et al.   PLoS One

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

(2008) Raphael Schiffmann et al.   ANNALS OF NEUROLOGY

Autophagy in the Pathogenesis of Disease

(2008) Beth Levine et al.   CELL

Isofagomine Induced Stabilization of Glucocerebrosidase

(2008) Gregory J. Kornhaber et al.   CHEMBIOCHEM