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Increased globotriaosylceramide on plasma membranes of synchronized familial dysautonomia cells
Journal of Molecular Neuroscience, 1994Familial dysautonomia is an autosomal recessive genetic disease found almost exclusively among Ashkenazi Jews, characterized by deficits in autonomic, sensory, and central functions. Although the gene has been localized to chromosome 9, the biochemical defect remains elusive.
J, Pereira +4 more
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Use of urinary globotriaosylceramide for fabry disease screening in Canada
Clinical Therapeutics, 20082008 S79 Clin Ther. 2008;30(Suppl C):S79–S80 © 2008 Excerpta Medica Inc. All rights reserved. 0149-2918/$32.00 Use of Urinary Globotriaosylceramide for Fabry Disease Screening in Canada Christiane Auray-Blais, LLM, PhD1; Denis Cyr, MSc1; Regen Drouin, MD, PhD1; Joe T.R. Clarke, MD, PhD1; and David S.
C AURAYBLAIS +4 more
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Monitoring enzyme replacement therapy in Fabry disease—Role of urine globotriaosylceramide
Journal of Inherited Metabolic Disease, 2005SummaryAnderson‐Fabry disease (referred to as Fabry disease) is an X‐linked disorder characterized by a deficiency of the lysosomal enzyme α‐galactosidase A and the subsequent accumulation in various tissues of globotriaosylceramide (Gb3), the main substrate of the defective enzyme.
Whitfield, Phillip D. +10 more
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Expression of the glycolipid globotriaosylceramide (Gb3) in testicular carcinoma in situ
Virchows Archiv, 1995Changes in the cell membrane glycolipid composition and metabolism are frequently associated with carcinogenesis. The accumulation of globo-series glycolipids is the most notable change of the germ cell glycolipid composition observed in testicular tumours.
J L, Kang +3 more
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Clinical & Experimental Ophthalmology, 2006
AbstractBackground: Fabry disease is an X‐linked disorder due to a deficiency of α‐galactosidase A and leads to the accumulation of globotriaosylceramide (Gb3) in various cells. The detection of Gb3 deposits may help in the diagnosis. To date, no immunofluorescence‐specific detection of Gb3 in conjunctival biopsies has been reported.
Paula A, Rozenfeld +3 more
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AbstractBackground: Fabry disease is an X‐linked disorder due to a deficiency of α‐galactosidase A and leads to the accumulation of globotriaosylceramide (Gb3) in various cells. The detection of Gb3 deposits may help in the diagnosis. To date, no immunofluorescence‐specific detection of Gb3 in conjunctival biopsies has been reported.
Paula A, Rozenfeld +3 more
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Journal of Chromatography B, 2004
Globotriaosylceramide (GL3) is a heterogeneous glycosphingolipid that is elevated in the blood plasma of patients diagnosed with Fabry disease. GL3 consists of numerous isoforms, some of which are distinctly specific to human plasma. An electrospray-ionization LC/MS/MS method has been developed that has the capacity to monitor the GL3 isoform profiles ...
Bryant C, Nelson +7 more
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Globotriaosylceramide (GL3) is a heterogeneous glycosphingolipid that is elevated in the blood plasma of patients diagnosed with Fabry disease. GL3 consists of numerous isoforms, some of which are distinctly specific to human plasma. An electrospray-ionization LC/MS/MS method has been developed that has the capacity to monitor the GL3 isoform profiles ...
Bryant C, Nelson +7 more
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Analytical Biochemistry, 2002
Self-assembled monolayers (SAMs) of Gb3 mimics having different lengths of alkyl chains were prepared on gold surfaces, and their interactions with galactose-specific lectin (RCA(120)) and Shiga toxins (Stxs) were investigated by a quartz crystal microbalance (QCM) in aqueous solutions. Their interaction with RCA(120) was enhanced owing to the "cluster
Yoshiko, Miura +4 more
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Self-assembled monolayers (SAMs) of Gb3 mimics having different lengths of alkyl chains were prepared on gold surfaces, and their interactions with galactose-specific lectin (RCA(120)) and Shiga toxins (Stxs) were investigated by a quartz crystal microbalance (QCM) in aqueous solutions. Their interaction with RCA(120) was enhanced owing to the "cluster
Yoshiko, Miura +4 more
openaire +2 more sources
Restricted accumulation of globotriaosylceramide in the hearts of atypical cases of Fabry's disease
Human Pathology, 1990Immunohistochemical and biochemical analyses of several tissues were performed in two unusual cases of Fabry's disease which showed accumulation of globotriaosylceramide (Gal alpha 1-4Gal beta 1-4 Glc-Cer, Gb3Cer) only in the hearts, but no clinical signs of the disease. Immunohistochemical study revealed that the hearts from our cases (cases no. 1 and
K, Ogawa +6 more
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Molecular Genetics and Metabolism, 2013
Fabry disease is an X-linked lysosomal disorder (LD) due to deficiency of the enzyme α-galactosidase A (αGal), which leads to the accumulation of neutral glycosphingolipids, mainly globotriaosylceramide (Gb3). Several mechanisms contribute to the diverse physiopathological alterations observed in this disease, and it has been suggested that an ...
Pablo N, De Francesco +4 more
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Fabry disease is an X-linked lysosomal disorder (LD) due to deficiency of the enzyme α-galactosidase A (αGal), which leads to the accumulation of neutral glycosphingolipids, mainly globotriaosylceramide (Gb3). Several mechanisms contribute to the diverse physiopathological alterations observed in this disease, and it has been suggested that an ...
Pablo N, De Francesco +4 more
openaire +2 more sources