Results 1 to 10 of about 2,063 (198)

A Rapid and Simple UHPLC-MS/MS Method for Quantification of Plasma Globotriaosylsphingosine (lyso-Gb3) [PDF]

Molecules, 2021
Fabry disease (FD) is a rare X-linked lysosomal storage disorder caused by α-galactosidase A gene (GLA) mutations, resulting in loss of activity of the lysosomal hydrolase, α-galactosidase A (α-Gal A).
Alessandro Perrone, Susan Mohamed, Vincenzo Donadio, Rocco Liguori, Manuela Contin   +4 more
doaj   +13 more sources

RIPK3 Contributes to Lyso-Gb3-Induced Podocyte Death [PDF]

Cells, 2021
Fabry disease is a lysosomal storage disease with an X-linked heritage caused by absent or decreased activity of lysosomal enzymes named alpha-galactosidase A (α-gal A).
So-Young Kim, Samel Park, Seong-Woo Lee, Ji-Hye Lee, Eun Soo Lee, Miri Kim, Youngjo Kim, Jeong Suk Kang, Choon Hee Chung, Jong-Seok Moon, Eun Young Lee   +10 more
doaj   +7 more sources

Elucidating the toxic effect and disease mechanisms associated with Lyso-Gb3 in Fabry disease. [PDF]

Hum Mol Genet, 2023
Fabry disease stems from a deficiency of alpha-galactosidase and results in the accumulation of globotriaosylceramide (Gb3). However, the production of its deacylated form globotriaosylsphingosine (lyso-Gb3) is also observed and its plasma levels have ...
Nikolaenko V, Warnock DG, Mills K, Heywood WE.   +3 more
europepmc   +9 more sources

High Lyso-Gb3 Plasma Levels Associated with Decreased miR-29 and miR-200 Urinary Excretion in Young Non-Albuminuric Male Patient with Classic Fabry Disease [PDF]

Case Reports in Nephrology, 2019
Renal involvement is associated with a greater morbidity and mortality in Fabry disease. Pathological albuminuria, the first Fabry nephropathy clinical manifestation, can occur from early childhood, although histological lesions such as tubulo ...
Sebastián Jaurretche, Germán R. Perez, Graciela Venera   +2 more
doaj   +4 more sources

Migalastat HCl reduces globotriaosylsphingosine (lyso-Gb3) in Fabry transgenic mice and in the plasma of Fabry patients. [PDF]

PLoS ONE, 2013
Fabry disease (FD) results from mutations in the gene (GLA) that encodes the lysosomal enzyme α-galactosidase A (α-Gal A), and involves pathological accumulation of globotriaosylceramide (GL-3) and globotriaosylsphingosine (lyso-Gb3).
Brandy Young-Gqamana, Nastry Brignol, Hui-Hwa Chang, Richie Khanna, Rebecca Soska, Maria Fuller, Sheela A Sitaraman, Dominique P Germain, Roberto Giugliani, Derralynn A Hughes, Atul Mehta, Kathy Nicholls, Pol Boudes, David J Lockhart, Kenneth J Valenzano, Elfrida R Benjamin   +15 more
doaj   +11 more sources

Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease. [PDF]

J Med Genet, 2022
Background Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A gene (GLA) leading to deficiency of α-galactosidase A and ultimately in progressive glycosphingolipid accumulation, especially globotriaosylceramide (Gb3) and its deacylated derivative ...
Nowak A, Beuschlein F, Sivasubramaniam V, Kasper D, Warnock DG.   +4 more
europepmc   +6 more sources

Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease. [PDF]

PLoS ONE, 2015
Biomarkers useful for diagnosis and evaluation of treatment for patients with Fabry disease are urgently needed. Recently, plasma globotriaosylsphingosine (lyso-Gb3) and lyso-Gb3-related analogues have attracted attention as promising biomarkers of Fabry
Hideaki Sueoka, Junji Ichihara, Takahiro Tsukimura, Tadayasu Togawa, Hitoshi Sakuraba   +4 more
doaj   +5 more sources

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

Separations
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).
Gennaro Battaglia, Gabriella Pinto, Carolina Fontanarosa, Michele Spinelli, Anna Illiano, Stefania Serpico, Lorenzo Chiariotti, Roberta Risoluti, Stefano Materazzi, Angela Amoresano   +9 more
doaj   +4 more sources

Les biomarqueurs dans la maladie de Fabry: relation entre Sphingosine-1 phosphate et Lyso-Gb3 [PDF]

, 2012
Problématique : La maladie de Fabry est une maladie métabolique à stockage lysosomal. C'est une maladie héreditaire à transmission récessive qui concerne l'enzyme alpha-Galactosidase A. Le gène de l'alpha-Galactosidase A (GLA) se trouve au niveau du bras
Daniela Herrera Moro Chao
core   +5 more sources

Case Report: Novel GLA mutation in a Chinese female with renal-predominant Fabry disease and cardiac hypertrophy [PDF]

Frontiers in Genetics
BackgroundFabry disease (FD) is a rare X-linked lysosomal storage disorder caused by GLA gene mutations, leading to deficient α-galactosidase A (α-Gal A) activity and progressive accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine ...
Lanxin Li, Tianyu Chang, Xichen Li, Yinglu Hao, Min Deng, Yanping Li   +5 more
doaj   +2 more sources