Fuller M et al. |
Rapid, single-phase extraction of glucosylsphingosine from plasma: A universal screening and monitoring tool. |
2015 |
Clin. Chim. Acta |
pmid:26232157
|
Mirzaian M et al. |
Mass spectrometric quantification of glucosylsphingosine in plasma and urine of type 1 Gaucher patients using an isotope standard. |
2015 |
Blood Cells Mol. Dis. |
pmid:25842368
|
Sun Y et al. |
Properties of neurons derived from induced pluripotent stem cells of Gaucher disease type 2 patient fibroblasts: potential role in neuropathology. |
2015 |
PLoS ONE |
pmid:25822147
|
Welford RW et al. |
Plasma lysosphingomyelin demonstrates great potential as a diagnostic biomarker for Niemann-Pick disease type C in a retrospective study. |
2014 |
PLoS ONE |
pmid:25479233
|
Burrow TA et al. |
CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings. |
2015 |
Mol. Genet. Metab. |
pmid:25219293
|
Gopalan V et al. |
Kinetic analysis of the interaction of alkyl glycosides with two human beta-glucosidases. |
1989 |
Biochem. J. |
pmid:2508630
|
Aflaki E et al. |
Macrophage models of Gaucher disease for evaluating disease pathogenesis and candidate drugs. |
2014 |
Sci Transl Med |
pmid:24920659
|
Angka L et al. |
Glucopsychosine increases cytosolic calcium to induce calpain-mediated apoptosis of acute myeloid leukemia cells. |
2014 |
Cancer Lett. |
pmid:24631520
|
Rolfs A et al. |
Glucosylsphingosine is a highly sensitive and specific biomarker for primary diagnostic and follow-up monitoring in Gaucher disease in a non-Jewish, Caucasian cohort of Gaucher disease patients. |
2013 |
PLoS ONE |
pmid:24278166
|
Gaspar P et al. |
Action myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis. |
2014 |
J. Lipid Res. |
pmid:24212238
|
Pavlova EV et al. |
B cell lymphoma and myeloma in murine Gaucher's disease. |
2013 |
J. Pathol. |
pmid:23775597
|
Sun Y et al. |
Substrate compositional variation with tissue/region and Gba1 mutations in mouse models--implications for Gaucher disease. |
2013 |
PLoS ONE |
pmid:23520473
|
Sardi SP et al. |
Augmenting CNS glucocerebrosidase activity as a therapeutic strategy for parkinsonism and other Gaucher-related synucleinopathies. |
2013 |
Proc. Natl. Acad. Sci. U.S.A. |
pmid:23297226
|
Cabrera-Salazar MA et al. |
Systemic delivery of a glucosylceramide synthase inhibitor reduces CNS substrates and increases lifespan in a mouse model of type 2 Gaucher disease. |
2012 |
PLoS ONE |
pmid:22912851
|
Zhang CK et al. |
Genome-wide association study of N370S homozygous Gaucher disease reveals the candidacy of CLN8 gene as a genetic modifier contributing to extreme phenotypic variation. |
2012 |
Am. J. Hematol. |
pmid:22388998
|
Sun Y et al. |
Ex vivo and in vivo effects of isofagomine on acid β-glucosidase variants and substrate levels in Gaucher disease. |
2012 |
J. Biol. Chem. |
pmid:22167193
|
Dekker N et al. |
Elevated plasma glucosylsphingosine in Gaucher disease: relation to phenotype, storage cell markers, and therapeutic response. |
2011 |
Blood |
pmid:21868580
|
Xu YH et al. |
Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models. |
2011 |
Mol. Genet. Metab. |
pmid:21257328
|
Li YT et al. |
Selective extraction and effective separation of galactosylsphingosine (psychosine) and glucosylsphingosine from other glycosphingolipids in pathological tissue samples. |
2011 |
Neurochem. Res. |
pmid:21136152
|
Auray-Blais C et al. |
How well does urinary lyso-Gb3 function as a biomarker in Fabry disease? |
2010 |
Clin. Chim. Acta |
pmid:20716442
|