Results 101 to 110 of about 5,162 (179)

Clearing of GB3 From Endothelial Vessels of Ocular Conjunctiva in Fabry Patients Treated with Agalsidase-Alfa

, 2006
Fabry\u27s disease is an X-linked inborn metabolic error caused by a deficiency of lysosomal ?- galactosidase A. Globotriaosylceramide (Gb3) accumulates in lysosomes of various cells.
R. Ebner; P. Rozenfeld; O. Croxatto; C. Fossati
core  

Gb3 accumulations in FD skin cells and gene expression analysis of FD keratinocytes.

Keratinocytes of FD patients were incubated with DAPI, Stx 647, and antibodies against CytK 10 and α-tubulin to visualize Gb3 deposits within cells. A) There were no Gb3 accumulations detectable within the cytoplasm of FD hEK.
Nurcan Üçeyler (226246), Katharina Klug (9577277), Laura Wagenhäuser (18334133), Lukas Hofmann (3348650), Erhard Wischmeyer (158589), Maximilian Breyer (18334127), Thomas Klein (121443), Julia Grüner (18334124), Vanessa Hochheimer (18334130)   +8 more
core   +1 more source

Scatter plots illustrate quantification of Gb3 load in CD77 stains of skin punch biopsy specimens from the lower leg of patients with Fabry disease (FD) compared to controls.

, 2016
Skin Gb3 load is higher in male FD patients than in female patients and male healthy controls. Similarly, some female FD patients have a higher skin Gb3 load than female controls, while group medians are not different.
Daniela Kramer (233707), Nurcan Üçeyler (226246), Frank Weidemann (387062), Nils Schröter (3350150), Waldemar Kafke (616103), Christoph Wanner (156898), Claudia Sommer (230646)   +6 more
core   +1 more source

Determination of Gb3 and Lyso-Gb3 in Fabry Disease-Affected Patients by LC-MRM/MS

Limited or absent activity of the enzyme α-galactosidase A (α-Gal A), due to mutation in the related gene on the X chromosome, leads to the development of a rare hereditary and genetic disease known as Fabry disease (FD).
Stefano Materazzi, Stefania Serpico, Chiariotti, Lorenzo, Angela Amoresano, Materazzi, Stefano, Pinto, Gabriella, Spinelli, Michele, Gennaro Battaglia, Risoluti, Roberta, Amoresano, Angela, Michele Spinelli, Anna Illiano, Illiano, Anna, Gabriella Pinto, Lorenzo Chiariotti, Fontanarosa, Carolina, Roberta Risoluti, Battaglia, Gennaro, Serpico, Stefania, Carolina Fontanarosa   +19 more
core   +1 more source

Developmentally regulated Gb3 galactosyltransferase and alpha-galactosidase determine Shiga toxin receptors in intestine

, 1994
The receptor for Shiga toxin on rabbit intestinal microvillus membranes (MVMs) has been identified as a developmentally regulated glycolipid, globotriaosylceramide [galactose alpha 1-4 galactose beta 1-4 glucose beta 1-1 ceramide (Gb3)].
K. Mishra, M. Mobassaleh, G. T. Keusch, R. H. McCluer, O. Koul   +4 more
core   +1 more source

Renal globotriaosylceramide deposits for Fabry disease linked to uncertain pathogenicity gene variant c.352C>T/p.Arg118Cys: A family study

Molecular Genetics & Genomic Medicine, 2019
Background Fabry disease (FD) has an extensive phenotypic expression associated with GLA gene variants. The GLA gene variant c.352C>T/p.Arg118Cys was considered with uncertain pathogenicity because of the finding of high residual alpha‐galactosidase A (α‐
Magdalena Cerón‐Rodríguez, Guillermo Ramón‐García, Edgar Barajas‐Colón, Isidro Franco‐Álvarez, Juan L. Salgado‐Loza   +4 more
doaj   +1 more source

Analysis of Globotriaosylceramide (Gb₃) in Liquid Urine: A Straightforward Assay Using Tandem Mass Spectrometry

Current Protocols
AbstractFabry disease (FD) is a lysosomal storage disorder caused by variants in the GLA gene encoding α‐galactosidase A, an enzyme required for catabolism of globotriaosylceramide (Gb3). Accumulation of Gb3 in patients’ cells, tissues, and biological fluids causes clinical manifestations including ventricular hypertrophy, renal insufficiency, and ...
Michel Boutin, Bruno Maranda, Paula J. Waters   +2 more
openaire   +2 more sources

Lyso-Gb3 analogues and Gb3 Isoforms.

, 2015
(A) Chemical structure of Lyso-Gb3 and sphingosine modification of lyso-Gb3 analogues. (B) Chemical structure of Gb3(d18:1-C16:0) and ceramide modification of Gb3 isoforms having various fatty acids linked with various sphingosine moieties corresponding ...
Hideaki Sueoka (737783), Mikio Aoki (367568), Tadayasu Togawa (278775), Takahiro Tsukimura (337088), Hitoshi Sakuraba (278778)   +4 more
core   +1 more source

Development of a Globotriaosylceramide (Gb3) detection system for disease diagnosis

La Globotriaosilceramida (Gb3) es un tipo de glucolípido neutro presente en la superficie de células preneoplásicas y en células malignas en el cáncer de cabeza y cuello, por ello, actúa como un biomarcador muy temprano de este cáncer.
Balbontín Bengoechea, Jesús
core  

Characterization of Fabry disease-associated lyso-Gb3 on mouse colonic ion transport and motility

: Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by a deficiency in α-galactosidase A leading to the accumulation of globotriaosylceramide (Gb3) and subsequent increase in globotriaosylsphingosine (lyso-Gb3) in different cells ...
Uhlig, Friederike, Delprete, Cecilia, Caprini, Marco, Hyland, Niall P   +3 more
core   +1 more source