Results 11 to 20 of about 6,638 (157)

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   +2 more sources

Epithelial-Mesenchymal Transition in Kidney Tubular Epithelial Cells Induced by Globotriaosylsphingosine and Globotriaosylceramide. [PDF]

PLoS ONE, 2015
Fabry disease is a lysosomal storage disorder caused by deficiency of alpha-galactosidase A (α-gal A), which results in the deposition of globotriaosylceramide (Gb3) in the vascular endothelium.
Yeo Jin Jeon, Namhee Jung, Joo-Won Park, Hae-Young Park, Sung-Chul Jung   +4 more
doaj   +3 more sources

Globotriaosylsphingosine (Lyso‐Gb₃) as a biomarker for cardiac variant (N215S) Fabry disease

Journal of Inherited Metabolic Disease, 2018
AbstractFabry disease (FD) is a multi‐systemic X‐linked lysosomal disorder caused by the deficient activity of α‐galactosidase‐A enzyme, which leads to accumulation of glycosphingolipids in various body tissues. The N215S mutation is a known variant of FD, with a late onset cardiac phenotype.
Fahad J. Alharbi, Shanat Baig, Christiane Auray‐Blais, Michel Boutin, Douglas G. Ward, Nigel Wheeldon, Rick Steed, Charlotte Dawson, Derralynn Hughes, Tarekegn Geberhiwot   +9 more
openaire   +3 more sources

Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II [PDF]

International Journal of Molecular Sciences
Lysosomal storage diseases are caused by defective lysosomal function, such as impaired lysosomal enzyme activities, which include more than 70 different diseases.
Seigo Terawaki, Norio Sakai, Hiroki Nakanishi   +2 more
exaly   +3 more sources

Globotriaosylsphingosine (lyso-Gb₃) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort

Journal of Medical Genetics, 2020
Introduction Recent studies showed the usefulness of globotriaosylsphingosine (lyso-Gb3) and related analogues, deacylated forms of globotriaosylceramide (Gb3), for high-risk screening, treatment monitoring and follow-up for patients with Fabry disease. Methods
Grigoris Effraimidis, Ulla Feldt-Rasmussen, Åse Krogh Rasmussen, Pamela Lavoie, Mona Abaoui, Michel Boutin, Christiane Auray-Blais   +6 more
openaire   +4 more sources

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

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   +2 more sources

Screening for Fabry disease in patients with left ventricular hypertrophy in China: A multicentre and prospective study

ESC Heart Failure
Aims Left ventricular hypertrophy (LVH) is frequently detected via echocardiography in individuals with Fabry disease (FD), sometimes leading to confusion with hypertrophic cardiomyopathy (HCM) of other aetiologies.
Zongwei Lin, Xinyu Zhang, Yan Liu, Dongxia Miao, Huanyi Zhang, Tao Zhang, Fenglei Zhang, Peng Li, Hongyan Dai, Guihua Jiang, Dongxia Zhang, Lin Zhong, Huixia Lu, Xiaoping Ji   +13 more
doaj   +2 more sources

Evaluation of GLA variants detected in newborn screening for Fabry disease using biomarker analysis [PDF]

Molecular Genetics and Metabolism Reports
Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the GLA gene, resulting in deficient or dysfunctional α-galactosidase A (AGAL) activity. Newborn screening (NBS) enables early detection and management; however,
Takaaki Sawada, Jun Kido, Takahiro Tsukimura, Keishin Sugawara, Tomoko Shiga, Seiji Saito, Tadayasu Togawa, Takahito Inoue, Yoriko Watanabe, Junpei Hamada, Hitoshi Sakuraba, Kimitoshi Nakamura   +11 more
doaj   +2 more sources

Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon-Optimized hGLA cDNA Results in Long-Term Disease Correction. [PDF]

J Inherit Metab Dis
AAV‐mediated gene therapy targets the liver to produce and secrete into circulation functional α‐Gal A, which is taken up by tissues to reduce glycosphingolipid accumulation and prevent disease progression in juvenile Fabry mice, even at low AAV doses. ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA ...
Saxena H, Domenis R, Romano G, Biasizzo J, Ferro M, Ferino D, Vicidomini A, Iaconcig A, Bortolussi G, Zentilin L, Dardis A, Muro AF.   +11 more
europepmc   +2 more sources

Distinctive accumulation of globotriaosylceramide and globotriaosylsphingosine in a mouse model of classic Fabry disease

Molecular Genetics and Metabolism Reports, 2023
Fabry disease (FD) is an inherited disease caused by deficient α-galactosidase A activity that is characterized by the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3).
Atsumi Taguchi, Satoshi Ishii, Mariko Mikame, Hiroki Maruyama   +3 more
doaj   +1 more source