Results 41 to 50 of about 7,193 (177)

Lyso-Gb3 Indicates that the Alpha-Galactosidase A Mutation D313Y is not Clinically Relevant for Fabry Disease [PDF]

, 2012
The X-chromosomal-linked lysosomal storage disorder Fabry disease can lead to life-threatening manifestations. The pathological significance of the Fabry mutation D313Y is doubted, because, in general, D313Y patients do not present clinical manifestations conformable with Fabry disease.
Markus, Niemann, Arndt, Rolfs, Anne, Giese, Hermann, Mascher, Frank, Breunig, Georg, Ertl, Christoph, Wanner, Frank, Weidemann   +7 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

MS/MS spectra of lyso-Gb3, lyso-Gb3-IS and lyso-Gb3 analogues acquired from a classical Fabry patient with a Q-Exactive.

, 2015
(A) Lyso-Gb3, (B) Lyso-Gb3-IS, (C) Lyso-Gb3(-28), (D) Lyso-Gb3(-12), (E) Lyso-Gb3(-2), (F) Lyso-Gb3(+14), (G) Lyso-Gb3(+16), (H) Lyso-Gb3(+18), (I) Lyso-Gb3(+34), and (J) Lyso-Gb3(+50). Triangles (▼) indicate the target fragments used for quantification.
Hideaki Sueoka (737783), Tadayasu Togawa (278775), Takahiro Tsukimura (337088), Junji Ichihara (737784), Hitoshi Sakuraba (278778)   +4 more
core   +1 more source

Plasma Lyso-Gb3 quantification.

, 2018
Plasma Lyso-Gb3 quantification.
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

Plasma mutant α-galactosidase A protein and globotriaosylsphingosine level in Fabry disease

Molecular Genetics and Metabolism Reports, 2014
Fabry disease is an X-linked genetic disorder characterized by deficient activity of α-galactosidase A (GLA) and accumulation of glycolipids, and various GLA gene mutations lead to a wide range of clinical phenotypes from the classic form to the later ...
Takahiro Tsukimura, Sachie Nakano, Tadayasu Togawa, Toshie Tanaka, Seiji Saito, Kazuki Ohno, Futoshi Shibasaki, Hitoshi Sakuraba   +7 more
doaj   +1 more source

Effect of SB525334 on the expression of EMT markers induced by Gb3 and lyso-Gb3.

, 2015
(A) Immunoblotting analysis of expression of EMT markers induced by Gb3 in HK2 cells with or without SB525334 (30 μM and 45 μM, respectively). (B) Immunoblotting analysis of expression of EMT markers induced by lyso-Gb3 in HK2 cells with or without ...
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

SGLT2 Inhibitors and Cardiovascular Outcomes in Patients With Fabry Disease: Observations From a Federated Research Network

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Background and Aim Fabry disease (FD) is frequently complicated by renal impairment and cardiovascular events; however, evidence on sodium–glucose cotransporter‐2 inhibitors (SGLT2i) in this population is scarce. Accordingly, we assessed the association between SGLT2i exposure and cardiovascular outcomes in adults with FD. Methods We conducted
Leandra Serio, Michele Rossi, Amir Askarinejad, Enrico Tartaglia, Tommaso Bucci, Enrica Marrone, Dinesh K. Kalra, Claudio Ferri, Gregory Y. H. Lip   +8 more
wiley   +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

The prevalence of Fabry disease among 1009 unrelated patients with hypertrophic cardiomyopathy: a Russian nationwide screening program using NGS technology

Orphanet Journal of Rare Diseases, 2022
Background There is a vast number of screening studies described in the literature from the beginning of the twenty-first century to the present day. Many of these studies are related to the estimation of Fabry disease (FD) morbidity among patients from ...
K. Savostyanov, A. Pushkov, I. Zhanin, N. Mazanova, S. Trufanov, A. Pakhomov, A. Alexeeva, D. Sladkov, A. Asanov, A. Fisenko   +9 more
doaj   +1 more source