original ) (raw )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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Restoration of β-GC trafficking improves the lysosome function in Gaucher’s disease
Dhwani Radhakrishnan
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Animal model of Gaucher's disease from targeted disruption of the mouse glucocerebrosidase gene
Victor Tybulewicz
Nature, 1992
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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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Neuropathology provides clues to the pathophysiology of Gaucher disease
Carlos Colegial
Molecular Genetics and Metabolism, 2004
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Gaucher's disease: the changing paradigm of a lysosomal disorder
Atul Mehta
Medicina Clínica, 2011
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Progress in Neurobiology, 2015
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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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Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice
Kenneth Setchell
Human Molecular Genetics, 2014
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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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Enhanced calcium release in the acute neuronopathic form of Gaucher disease
selena Bodennec
Neurobiology of Disease, 2005
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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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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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Glycolipid analysis of different tissues and cerebrospinal fluid in type II Gaucher disease
Bruno Bembi
2002
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Glucocerebrosidase gene-deficient mouse recapitulates Gaucher disease displaying cellular and molecular dysregulation beyond the macrophage
James McGrath
Proceedings of the National Academy of Sciences, 2010
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The Annals of pharmacotherapy, 2013
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2014
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Gaucher Disease - An Overview
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2024
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Gaucher disease: Progress and ongoing challenges
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Pathogenesis of lysosomal storage disorders as illustrated by Gaucher disease
Sonja Van Weely
Journal of Inherited Metabolic Disease, 1993
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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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The emerging role of autophagic-lysosomal dysfunction in Gaucher disease and Parkinson's disease
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Neural regeneration research, 2017
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Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
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Molecular genetics and metabolism, 2003
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A biochemical and ultrastructural evaluation of the type 2 Gaucher mouse
Arnold Reuser
Molecular and chemical neuropathology / sponsored by the International Society for Neurochemistry and the World Federation of Neurology and research groups on neurochemistry and cerebrospinal fluid
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Molecular basis and clinical management of Gaucher disease
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Cardiogenetics, 2013
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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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Ultrastructural localization of glucocerebrosidase in cultured Gaucher's disease fibroblasts by immunocytochemistry
Arnold Reuser
Journal of Neurology, 1987
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Neurochemical abnormalities in patients with type 1 Gaucher disease on standard of care therapy
Neal Weinreb
Journal of Inherited Metabolic Disease, 2019
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Gaucher Disease: Exploring the Genetic and Clinical Frontiers of a Multifaceted Condition (Atena Editora)
Atena Editora
Gaucher Disease: Exploring the Genetic and Clinical Frontiers of a Multifaceted Condition (Atena Editora), 2024
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Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal cell death
Hai Bui
Human molecular genetics, 2015
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A Review of Gaucher Disease Pathophysiology, Clinical Presentation and Treatments
T Billette
International journal of molecular sciences, 2017
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Loss of β-Glucocerebrosidase Activity Does Not Affect Alpha-Synuclein Levels or Lysosomal Function in Neuronal Cells
Helen Michelakakis
PLoS ONE, 2013
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