Title: Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation.
Journal: American journal of hematology 20120401
Title: Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease.
Journal: The Journal of biological chemistry 20120203
Title: Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease.
Journal: PloS one 20120101
Title: Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response.
Journal: Blood 20111020
Title: Selective extraction and effective separation of galactosylsphingosine (psychosine) and glucosylsphingosine from other glycosphingolipids in pathological tissue samples.
Journal: Neurochemical research 20110901
Title: Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models.
Journal: Molecular genetics and metabolism 20110401
Title: How well does urinary lyso-Gb3 function as a biomarker in Fabry disease?
Journal: Clinica chimica acta; international journal of clinical chemistry 20101214
Title: 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.
Journal: Human molecular genetics 20100315
Title: A possible mechanism underlying the ceramide deficiency in atopic dermatitis: expression of a deacylase enzyme that cleaves the N-acyl linkage of sphingomyelin and glucosylceramide.
Journal: Journal of dermatological science 20090701
Title: Sphingosylphosphorylcholine antagonizes proton-sensing ovarian cancer G-protein-coupled receptor 1 (OGR1)-mediated inositol phosphate production and cAMP accumulation.
Journal: Journal of pharmacological sciences 20051001
Title: Sphingolipids as bioactive regulators of thrombin generation.
Journal: The Journal of biological chemistry 20040326
Title: Toxicity of glucosylsphingosine (glucopsychosine) to cultured neuronal cells: a model system for assessing neuronal damage in Gaucher disease type 2 and 3.
Journal: Neurobiology of disease 20031201
Title: Lyso-glycosphingolipids mobilize calcium from brain microsomes via multiple mechanisms.
Journal: The Biochemical journal 20031101
Title: Simultaneous quantification of lyso-neutral glycosphingolipids and neutral glycosphingolipids by N-acetylation with [3H]acetic anhydride.
Journal: Journal of lipid research 20030701
Title: Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms.
Journal: The Journal of biological chemistry 20030627
Title: Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
Journal: Molecular genetics and metabolism 20030601
Title: Myoclonic epilepsy in Gaucher disease: genotype-phenotype insights from a rare patient subgroup.
Journal: Pediatric research 20030301
Title: Abnormal expression of the novel epidermal enzyme, glucosylceramide deacylase, and the accumulation of its enzymatic reaction product, glucosylsphingosine, in the skin of patients with atopic dermatitis.
Journal: Laboratory investigation; a journal of technical methods and pathology 20030301
Title: Sphingosylphosphorylcholine is upregulated in the stratum corneum of patients with atopic dermatitis.
Journal: Journal of lipid research 20030101
Title: Glucosylceramide modulates membrane traffic along the endocytic pathway.
Journal: Journal of lipid research 20021101
Title: Apoptotic positive cells in Krabbe brain and induction of apoptosis in rat C6 glial cells by psychosine.
Journal: Neuroscience letters 20020920
Title: Glucosylsphingosine accumulation in tissues from patients with Gaucher disease: correlation with phenotype and genotype.
Journal: Molecular genetics and metabolism 20020801
Title: Apoptosis of Neuro2a cells induced by lysosphingolipids with naturally occurring stereochemical configurations.
Journal: Journal of lipid research 20010801
Title: Lysosphingolipid receptor-mediated diuresis and natriuresis in anaesthetized rats.
Journal: British journal of pharmacology 20010401
