Results 81 to 90 of about 6,638 (157)

Analysis of Lyso-Globotriaosylsphingosine in Dried Blood Spots

, 2014
Recently, lyso-globotriaosylsphingosine (lyso-Gb3) was found to be elevated in plasma of treatment naive male patients and some female patients with Fabry Disease (FD).
Johnson, Britt;Mascher, Hermann;Mascher, Daniel;Legnini, Elisa;Hung, Christina Y.;Dajnoki, Angela;Chien, Yin-Hsiu;Marodi, Laszlo;Hwu, Wuh-Liang;Bodamer, Olaf A., 胡務亮 ;簡穎秀   +1 more
core  

Cell Transplantation Combined with Recombinant Collagen Peptides for the Treatment of Fabry Disease

Cell Transplantation, 2020
Fabry disease is caused by a decrease in or loss of the activity of alpha-galactosidase, which causes its substrates globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) to accumulate in cells throughout the body. This accumulation results
Daisuke Kami, Masashi Yamanami, Takahiro Tsukimura, Hideki Maeda, Tadayasu Togawa, Hitoshi Sakuraba, Satoshi Gojo   +6 more
doaj   +1 more source

Correlation analyses: Plasma globotriaosylsphingosine (Lyso-Gb3) and plasma α-Gal A activity for males N215S (blue; n = 13), males non-N215S (orange; n = 9) and females N215S (purple; n = 26), females non-N215S (green; n = 36).

, 2018
Correlation analyses: Plasma globotriaosylsphingosine (Lyso-Gb3) and plasma α-Gal A activity for males N215S (blue; n = 13), males non-N215S (orange; n = 9) and females N215S (purple; n = 26), females non-N215S (green; n = 36).
B. Beaton (5066303), D. A. Hughes (5066294), U. Ramaswami (5066297), A. S. Thomas (5066300), H. Ebrahim (5066309), P. Elliott (1293702), M. Reed (4855099), A. B. Mehta (5066306), L. Lavalle (5066291)   +8 more
core   +1 more source

Chinese Expert Consensus on the Diagnosis and Treatment of Adult Fabry Disease Cardiomyopathy

罕见病研究
Fabry disease (FD) is an X-linked genetic disorder caused by mutations in the GLA gene. It leads to reduced or complete deficiency of the activity of α-galactosidase A (α-Gal A), resulting in an accumulation of the metabolic substrate ...
Chinese Society of Cardiology, Chinese Medical Association, Editorial Board of Chinese Journal of Cardiology   +1 more
doaj   +1 more source

Urinary Globotriaosylsphingosine-Related Biomarkers for Fabry Disease Targeted by Metabolomics

, 2016
Fabry disease is a lysosomal storage disorder caused by deficiency of α-galactosidase A, resulting in glycosphingolipid accumulation in organs and tissues, including plasma and urine.
Christiane Auray-Blais (1413886), René Gagnon (2101546), Pamela Lavoie (1996201), Michel Boutin (1413883), Joe T. R. Clarke (2101549), Félix O. Dupont (2101552)   +5 more
core   +3 more sources

Complement activation and cellular inflammation in Fabry disease patients despite enzyme replacement therapy

Frontiers in Immunology
Defective α-galactosidase A (AGAL/GLA) due to missense or nonsense mutations in the GLA gene results in accumulation of the glycosphingolipids globotriaosylceramide (Gb3) and its deacylated derivate globotriaosylsphingosine (lyso-Gb3) in cells and body ...
Björn Laffer, Malte Lenders, Elvira Ehlers-Jeske, Karin Heidenreich, Eva Brand, Jörg Köhl, Jörg Köhl   +6 more
doaj   +1 more source

Plasma concentrations of A) lyso-Gb3 (nM) and B) lyso-Gb3(-2) (area ratio of lyso-Gb3-IS) in classic Fabry males (Cl), later-onset Fabry males (La), Fabry females (Fe), functional variants with E66Q (E66), and healthy subjects (He).

, 2015
Fabry patients harboring M296I (◇) and R112H (□). Other subjects (◆). The lower concentration areas for Lyso-Gb3 and Lyso-Gb3 (-2) are enlarged in the small right graphs.
Hideaki Sueoka (737783), Tadayasu Togawa (278775), Takahiro Tsukimura (337088), Junji Ichihara (737784), Hitoshi Sakuraba (278778)   +4 more
core   +1 more source

The relative abundance of lyso-Gb3 analogues as to lyso-Gb3 in organs and plasma of the wild-type and GLA knockout mice.

, 2015
The relative abundance of lyso-Gb3 analogues as to lyso-Gb3 in organs and plasma of the wild-type and GLA knockout mice.
Hideaki Sueoka (737783), Mikio Aoki (367568), Tadayasu Togawa (278775), Takahiro Tsukimura (337088), Hitoshi Sakuraba (278778)   +4 more
core   +1 more source

Effects of Gb3 and lyso-Gb3 treatments on EMT through PI3K/AKT pathway in HK2 cells.

, 2015
(A–C) Immunoblotting analysis of TGF-β, EMT markers, and phosphorylation of PI3K/AKT following Gb3 (30 μM and 45 μM) treatment of HK2 cells for 72 h. (D–F) Immunoblotting analysis of TGF-β, EMT markers, and phosphorylation of PI3K/AKT following lyso-Gb3 (
Sung-Chul Jung (785337), Hae-Young Park (785336), Joo-Won Park (785335), Namhee Jung (589929), Yeo Jin Jeon (785334)   +4 more
core   +1 more source

Elevated Lyso-Gb3 suggests the R118C GLA mutation is a pathological fabry variant

, 2019
Fabry disease (FD), an X-linked lysosomal storage disease, results from an α-galactosidase A deficiency and altered sphingolipid metabolism. An accumulation of globotriaosylsphingosine (lyso-Gb3) likely triggers the pathological cascade leading to ...
Talbot, A, Nicholls, K
core   +1 more source