Results 21 to 30 of about 5,162 (179)

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

Clinical and Biochemical Improvement After Switching From Agalsidase Alfa to Beta in a Boy With Classic Fabry Disease: A Case Report. [PDF]

Clin Case Rep
ABSTRACT We described a 12‐year‐old boy with classic Fabry disease who was diagnosed through newborn screening. At age 6.2, he started agalsidase alfa based on evidence of subclinical organ involvement. At age 7.2, acroparesthesia subsequently developed.
Koga N, Yodogawa H, Sawada T, Mushimoto Y, Nagamitsu S, Nakamura K, Hirose S, Inoue T.   +7 more
europepmc   +2 more sources

AB077. Identification of lysosomal and extralysosomal globotriaosylceramide (Gb3) accumulation in endomyocardial biopsies before the occurrence of typical pathological changes of Fabry disease [PDF]

Annals of Translational Medicine, 2017
Niu D, Hsu M, Chang F, Lu Y, Hung S, Wang Y, Yang A, Hsu C.   +7 more
europepmc   +3 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

Globotriaosylceramide, Gb3, is an alternative functional receptor for Shiga-like toxin 2e [PDF]

Infection and Immunity, 1995
We reexamined the binding specificity of the Shiga-like toxin variant associated with porcine edema disease, SLT2e, which is reported to be more cytotoxic for Vero cells than for HeLa cells, by using receptor-deficient cells and a liposomal insertion system for purified glycolipids.
G T, Keusch, M, Jacewicz, D W, Acheson, A, Donohue-Rolfe, A V, Kane, R H, McCluer   +5 more
openaire   +2 more sources

Does administration of hydroxychloroquine/amiodarone accelerate accumulation of globotriaosylceramide and globotriaosylsphingosine in Fabry mice?

Molecular Genetics and Metabolism Reports, 2021
Drug-induced lysosomal storage disease (DILSD) caused by cationic amphiphilic drugs (CADs), which exhibits toxic manifestations and pathological findings mimicking Fabry disease (α-galactosidase A deficiency), has attracted the interests of clinicians ...
Takahiro Tsukimura, Tomoko Shiga, Koki Saito, Yasuhiro Ogawa, Hitoshi Sakuraba, Tadayasu Togawa   +5 more
doaj   +1 more source

Structural Basis of Shiga Toxin Neutralization by Human Antibodies Targeting Canonical Receptor-Binding and Non-Canonical Assembly Sites. [PDF]

Adv Sci (Weinh)
Cryo‐electron microscopy structures reveal two distinct neutralization mechanisms of fully human monoclonal antibodies targeting the Shiga toxin 1a B subunit. RDS059 occludes the Gb3 receptor‐binding site, whereas RDS045 engages a lateral quaternary epitope to disrupt holotoxin assembly.
Ke J, Li X, Wang X, Huang Z, Xue S, Liu Y, Pan J, Hu G, Wang Y, Wang C, Chen S.   +10 more
europepmc   +2 more sources

Skin globotriaosylceramide 3 deposits are specific to Fabry disease with classical mutations and associated with small fibre neuropathy. [PDF]

PLoS ONE, 2017
Fabry Disease (FD) is characterized by globotriaosylceramide-3 (Gb3) accumulation in several tissues and a small fibre neuropathy (SFN), however the underlying mechanisms are poorly known. This study aimed to: 1) ascertain the presence of Gb3 deposits in
Rocco Liguori, Alex Incensi, Silvia de Pasqua, Renzo Mignani, Enrico Fileccia, Marisa Santostefano, Elena Biagini, Claudio Rapezzi, Silvia Palmieri, Ilaria Romani, Walter Borsini, Alessandro Burlina, Roberto Bombardi, Marco Caprini, Patrizia Avoni, Vincenzo Donadio   +15 more
doaj   +1 more source

Assessing the role of glycosphingolipids in the phenotype severity of Fabry disease mouse model

Journal of Lipid Research, 2020
Fabry disease is caused by deficient activity of α-galactosidase A, an enzyme that hydrolyzes the terminal α-galactosyl moieties from glycolipids and glycoproteins, and subsequent accumulation of glycosphingolipids, mainly globotriaosylceramide (Gb3 ...
Siamak Jabbarzadeh-Tabrizi, Michel Boutin, Taniqua S. Day, Mouna Taroua, Raphael Schiffmann, Christiane Auray-Blais, Jin-Song Shen   +6 more
doaj   +1 more source

An Unusual Etiology of Bayés' Syndrome: Fabry Disease. [PDF]

Ann Noninvasive Electrocardiol
This patient with gene confirmed Fabry disease had advanced interatrial conduction block as seen on atrial‐specific vector tracing demonstrating sinus bradycardia with first‐degree AV block and sinus P‐wave terminal delay with biphasic morphology. The patient was later diagnosed with atrial fibrillation, which led to the diagnosis of Bayés' syndrome ...
Kunce NE, Silva A, Haigney M, Kisling A.
europepmc   +2 more sources