Results 91 to 100 of about 7,193 (177)

Search of molecules associating with Gb3 in glycosphingolipid-enriched microdomain [PDF]

, 2004
Silurus asotus (catfish) egg lectin (SAL) is a member of rhamnose-binding lectin family, and binds to globotriaosylceramide (Gb3) localized in a glycosphingolipid-enriched microdomain (GEM) on several tumor cell lines. It is known that GEM is involved in
細野, 雅祐, Nitta, Kazuo, オガワ, ユキコ, スガワラ, シゲキ, Sugawara, Shigeki, Sasaki, Satoko, 菅原, 栄紀, ササキ, サトコ, 小川, 由起子, 佐々木, 智子, ニッタ, カズオ, Hosono, Masahiro, Ogawa, Yukiko, ホソノ, マサヒロ, 仁田, 一雄   +14 more
core  

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

Definition of a clinical relevant Fabry Disease by the biomarker Lyso Gb3 in patients with an alpha- Galactosidase mutation

, 2013
Der Morbus Fabry ist eine sehr heterogenetische und heterophänotypische Krankheit. Ursache der Erkrankung liegt in der Mutation des alpha- Galaktosidase Gens. Es kommt zur Akkumulation von Glykosphingolipiden.
Kämpf, Tanja
core   +2 more sources

Sex Differences in Circulating Inflammatory, Immune, and Tissue Growth Markers Associated with Fabry Disease-Related Cardiomyopathy

Cells
Fabry disease (FD) is a lysosomal disorder due to alpha-galactosidase-A enzyme deficiency, accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) which lead to proinflammatory effects.
Margarita M. Ivanova, Julia Dao, Andrew Friedman, Neil Kasaci, Ozlem Goker-Alpan   +4 more
doaj   +1 more source

Nuovi marcatori

Giornale di Clinica Nefrologia e Dialisi, 2017
non ...
Giuseppe Cammarata
doaj  

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

Genotypes, plasma lyso-Gb3 concentrations, and clinical manifestations in the patients with Fabry disease.

, 2015
P: Pain in peripheral extremities, A: Angiokeratomas, HH: Hypohidrosis, CO: Corneal opacities, RD: Renal disease, HD: Heart disease, and CV: Cerebrovascular disease. N: Not available. WT: Wild type*Ref.
Hideaki Sueoka (737783), Tadayasu Togawa (278775), Takahiro Tsukimura (337088), Junji Ichihara (737784), Hitoshi Sakuraba (278778)   +4 more
core   +1 more source

Nanomedicines for DNA and interference RNA co-delivery: Combined gene therapy for Fabry disease

International Journal of Pharmaceutics: X
Fabry disease (FD) is a multisystemic rare disorder caused by mutations in the GLA gene encoding α-Galactosidase A (α-Gal A) enzyme. The deficiency of this enzyme leads to progressive lysosomal accumulation of glycosphingolipids, especially ...
Marina Beraza-Millor, Paula Fernández-Muro, Madalen Arribas-Galarreta, Ana del Pozo-Rodríguez, Alicia Rodríguez-Gascón, María Ángeles Solinís   +5 more
doaj   +1 more source

Multiplex Tandem Mass Spectrometry Analysis of Novel Plasma Lyso-Gb₃‑Related Analogues in Fabry Disease

, 2016
Fabry disease is a multisystemic, X-linked lysosomal storage disorder caused by a deficit in α-galactosidase A enzyme activity leading to glycosphingolipid accumulation, mainly globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3).
Christiane Auray-Blais (1413886), Michel Boutin (1413883)   +1 more
core   +1 more source

Insights of Fabry disease: Expert consensus approach for screening, diagnosis, and multidisciplinary management in chronic kidney disease

Journal of the Formosan Medical Association
The prevalence of Fabry disease (FD) among males with chronic kidney disease (CKD) of unknown etiology in Taiwan is 0.6%. Despite this, FD is frequently overlooked in clinical settings.
Cheng-Jui Lin, Feng-Jung Yang, Chih-Jen Wu, Ming-Ju Wu, Mai-Szu Wu   +4 more
doaj   +1 more source