Properties of Neurons Derived from Induced Pluripotent Stem Cells of Gaucher Disease Type 2 Patient Fibroblasts: Potential Role in Neuropathology

Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1

(2014) Evangelos Kiskinis et al.   Cell Stem Cell

Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice

(2014) You-hai Xu et al.   HUMAN MOLECULAR GENETICS

An in vivo model of human small intestine using pluripotent stem cells

(2014) Carey L Watson et al.   NATURE MEDICINE

Gaucher iPSC-Derived Macrophages Produce Elevated Levels of Inflammatory Mediators and Serve as a New Platform for Therapeutic Development

(2014) Leelamma M. Panicker et al.   STEM CELLS

iPSC-derived neurons from GBA1-associated Parkinson’s disease patients show autophagic defects and impaired calcium homeostasis

(2014) David C. Schöndorf et al.   Nature Communications

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

Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice

(2013) Ying Sun et al.   HUMAN MOLECULAR GENETICS

Unfolded protein response in Gaucher disease: from human to Drosophila

(2013) Gali Maor et al.   Orphanet Journal of Rare Diseases

Impaired Neural Differentiation of Induced Pluripotent Stem Cells Generated from a Mouse Model of Sandhoff Disease

(2013) Yasuhiro Ogawa et al.   PLoS One

Substrate Compositional Variation with Tissue/Region and Gba1 Mutations in Mouse Models–Implications for Gaucher Disease

(2013) Ying Sun 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

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

(2013) Takahiro Suzuki et al.   PLoS One

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

Immunological cell type characterization and Th1–Th17 cytokine production in a mouse model of Gaucher disease

(2012) Manoj Kumar Pandey et al.   MOLECULAR GENETICS AND METABOLISM

Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage

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

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

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

Gaucher disease gene GBA functions in immune regulation

(2012) J. Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models

(2011) Y.H. Xu et al.   MOLECULAR GENETICS AND METABOLISM

Lentiviral Vector Design and Imaging Approaches to Visualize the Early Stages of Cellular Reprogramming

(2011) Eva Warlich et al.   MOLECULAR THERAPY

A more efficient method to generate integration-free human iPS cells

(2011) Keisuke Okita et al.   NATURE METHODS

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

Glycosphingolipid studies of visceral tissues and brain from type 1 Gaucher disease variants

(2010) Olle Nilsson et al.   CLINICAL GENETICS

Increased cerebroside concentration in plasma and erythrocytes in Gaucher disease: Significant differences between Type I and Type III

(2010) Olle Nilsson et al.   CLINICAL GENETICS

Neuronopathic Gaucher disease in the mouse: viable combined selective saposin C deficiency and mutant glucocerebrosidase (V394L) mice with glucosylsphingosine and glucosylceramide accumulation and progressive neurological deficits

(2010) Y. Sun et al.   HUMAN MOLECULAR GENETICS

Improved management of lysosomal glucosylceramide levels in a mouse model of type 1 Gaucher disease using enzyme and substrate reduction therapy

(2010) John Marshall et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The Role of the Ceramide Acyl Chain Length in Neurodegeneration: Involvement of Ceramide Synthases

(2010) Oshrit Ben-David et al.   NEUROMOLECULAR MEDICINE

Transcript profiling and lipidomic analysis of ceramide subspecies in mouse embryonic stem cells and embryoid bodies

(2009) Hyejung Park et al.   JOURNAL OF LIPID RESEARCH

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism

(2009) John DePaolo et al.   MOVEMENT DISORDERS

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

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

Disease-Specific Induced Pluripotent Stem Cells

(2008) In-Hyun Park et al.   CELL

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

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