original ) (raw )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
Charles Vorhees
Human Molecular Genetics, 2010
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Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease
Bruno Bembi
2002
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Neuronal accumulation of glucosylceramide in a mouse model of neuronopathic Gaucher disease leads to neurodegeneration
Jessica Bame
Human Molecular Genetics, 2014
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Glucosylsphingosine Accumulation in Mice and Patients with Type 2 Gaucher Disease Begins Early in Gestation
Brian Martin , Ellen Sidransky
Pediatric Research, 2000
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Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3
Miles Herkenham
Neurobiology of Disease, 2003
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Non-neuronopathic Gaucher disease due to saposin C deficiency
Marie Vanier
Clinical Genetics, 2007
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Sphingolipids—Their Metabolic Pathways and the Pathobiochemistry of Neurodegenerative Diseases
Thomas Kolter
Angewandte Chemie International Edition, 1999
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Neuronopathic Gaucher disease: Beyond lysosomal dysfunction
Silvana Zanlungo
Frontiers in Molecular Neuroscience
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Monogenic neurological disorders of sphingolipid metabolism
Leonardo ASTUDILLO
Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids, 2015
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A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse
Victor Tybulewicz , R. Willemsen
Molecular and chemical …, 1995
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A new glucocerebrosidase deficient neuronal cell model provides a tool to probe pathophysiology and therapeutics for Gaucher disease
Amalia Dutra
Disease Models & Mechanisms, 2016
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Saposin C mutations in Gaucher disease patients resulting in lysosomal lipid accumulation, saposin C deficiency, but normal prosaposin processing and sorting
Marie Vanier
Human Molecular Genetics, 2010
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Drastically abnormal gluco- and galactosylceramide composition does not affect ganglioside metabolism in the brain of mice deficient in galactosylceramide synthase
Marie Vanier
Neurochemical research, 1999
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Clinical phenotype of Gaucher disease in relation to properties of mutant glucocerebrosidase in cultured fibroblasts
Ineke Jansen
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1991
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Optimization of ultra-high pressure liquid chromatography - tandem mass spectrometry determination in plasma and red blood cells of four sphingolipids and their evaluation as biomarker candidates of Gaucher's disease
Sylvie Héron
Journal of chromatography. A, 2017
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Mutations of glucocerebrosidase: discrimination of neurologic and non-neurologic phenotypes of Gaucher disease
Samuel Pirruccello
Proceedings of the National Academy of Sciences, 1982
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Alterations in the properties of the cell membrane due to glycosphingolipid accumulation in a model of Gaucher disease
Tamás Bozó
Scientific reports, 2018
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Neuropathology provides clues to the pathophysiology of Gaucher disease
Carlos Colegial
Molecular Genetics and Metabolism, 2004
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Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency
Simona Fecarotta
Orphanet Journal of Rare Diseases, 2023
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Gaucher-related synucleinopathies: The examination of sporadic neurodegeneration from a rare (disease) angle
Lamya Shihabuddin
Progress in Neurobiology, 2015
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Gaucher disease due to saposin C deficiency, previously described as non-neuronopathic form — No positive effects after 2-years of miglustat therapy
Agnieszka Ługowska
Molecular Genetics and Metabolism, 2011
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Disorders of Sphingolipid Metabolism
Marie Vanier
Inborn Metabolic Diseases, 2006
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Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)
Fernando Scaglia
American Journal of Medical Genetics, 2002
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Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice
Kenneth Setchell
Human Molecular Genetics, 2014
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Murine models of acute neuronopathic Gaucher disease
Ida Enquist , Eva Nilsson
Proceedings of the National Academy of Sciences of the United States of America, 2007
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Secondary sphingolipid accumulation in a macrophage model of Gaucher disease
Leanne Hein
Molecular Genetics and Metabolism, 2007
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Lipid composition of microdomains is altered in a cell model of Gaucher disease
Stephen Duplock , Leanne Hein
The Journal of Lipid Research, 2008
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Characterization of glucocerebrosidase in Greek Gaucher disease patients: mutation analysis and biochemical studies
Helen Michelakakis
Journal of Inherited Metabolic Disease, 1995
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Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response
Maria Lucia G Ferraz
Blood, 2011
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