Results 91 to 100 of about 3,638 (152)

Spontaneous Accumulation of Globotriaosylceramide (Gb3) in Proximal Renal Tubules in an ICR Mouse

Journal of Toxicologic Pathology, 2013
This report describes spontaneous cytoplasmic vacuolation in the proximal renal tubules of a 7-week-old male ICR [Crlj:CD1(ICR)] mouse. The contents of vacuoles were positively stained with periodic acid-Schiff (PAS) and Sudan black, and the membranes were positive on immunohistochemical staining for lysosomal-associated membrane protein-2 (LAMP-2), a ...
Mutsuga, Mayu, Asaoka, Yoshiji, Togashi, Yuko, Imura, Naoko, Miyoshi, Tomoya, Miyamoto, Yohei   +5 more
openaire   +3 more sources

Fabry disease in W162C mutation: a case report of two patients and a review of literature

BMC Neurology
Background Fabry disease is a multisystemic disorder characterized by deposition of globotriaosylceramide (Gb3) and its deacylated form in multiple organs, sometimes localized in specific systems such as the nervous or cardiovascular system.
Alessandro Furia, Raffaello Ditaranto, Elena Biagini, Vanda Parisi, Alex Incensi, Sara Parisini, Rocco Liguori, Vincenzo Donadio   +7 more
doaj   +1 more source

A Case of a 50-Year-Old Woman with Typical Fabry Disease Who Showed Serial Electrocardiographic and Echocardiographic Changes over a 17-Year Period

Case Reports in Cardiology, 2019
Fabry disease (FD) is a progressive, X-linked lysosomal storage disorder caused by a deficiency of α-galactosidase A activity. Affected individuals accumulate globotriaosylceramide and glycosphingolipids in the lysosomes and cytoplasm of cells throughout
Su Nam Lee, Gee-Hee Kim, Ki-Dong Yoo
doaj   +1 more source

The Continuous Challenge of Diagnosing patients with Fabry disease in Argentina

Journal of Inborn Errors of Metabolism and Screening, 2015
The lysosomal storage disorder Fabry disease (FD) is caused by pathogenic mutations in the α-galactosidase A gene, localized in X chromosome. Deficient enzymatic activity of the product of this gene, the lysosomal hydrolase α-galactosidase A, leads to ...
Paula A Rozenfeld PhD, Romina Ceci Bioc, Norma Roa Lic, Isaac Kisinovsky MD   +3 more
doaj   +1 more source

Generation of human induced pluripotent stem cell line MHHi029-A from a male Fabry disease patient carrying c.959A > T mutation

Stem Cell Research
Fabry disease (FD) is a rare and inherited monogenetic disease caused by mutations in the X-chromosomal alpha-galactosidase A gene GLA concomitant with accumulation of its substrate globotriaosylceramide (Gb3) and multi-organ symptoms.
Christopher Jahn, Malte Juchem, Kristina Sonnenschein, Anika Gietz, Theresa Buchegger, Nico Lachmann, Gudrun Göhring, Yvonne Lisa Behrens, Christian Bär, Thomas Thum, Jeannine Hoepfner   +10 more
doaj   +1 more source

Generation of an induced pluripotent stem cell line (SMBCi022-A) from a patient with Fabry disease

Stem Cell Research
Fabry disease (FD) is a systemic disease in which globotriaosylceramide and other naturally occurring glycosphingolipid accumulate in various tissues throughout the body due to mutation of α-galactosidase A (GLA).
Zihan Li, Jing Luan, Yali Yang, Guowei Li, Zhouhui Hu, Che Yu, Yazhou Cui, Jinxiang Han   +7 more
doaj   +1 more source

Expression of the verotoxin receptor glycolipid, globotriaosylceramide, in ovarian hyperplasias.

Oncology research, 1998
The presence of cell surface receptor glycolipid, globotriaosylceramide (Gb3), is essential to confer susceptibility to the E. coli-derived verotoxin (VT). Our earlier studies showed that Gb3 is expressed in ovarian carcinoma cell lines. The Gb3 content of normal ovary, benign and malignant primary ovarian tumors, and their metastases have now been ...
S, Arab, E, Russel, W B, Chapman, B, Rosen, C A, Lingwood   +4 more
openaire   +1 more source

From Shoulder to Heart: Acute Shoulder Pain Leads to a Diagnosis of Fabry Disease. [PDF]

JACC Case Rep
Kalaria A, Farooq W, Kolupoti A, Meng J, Kim AS.   +4 more
europepmc   +1 more source

Clinical awareness and targeted manual urine microscopy enable diagnosis of a fabry disease family missed by routine urinalysis. [PDF]

BMC Nephrol
Kato H, Yokoyama T, Manabe S, Seki M, Ushio Y, Makabe S, Kobayashi S, Kataoka H, Nitta K, Hoshino J.   +9 more
europepmc   +1 more source

Effects of Catfish Egg Lectin on Cancer Cells Differ According to the Globotriaosylceramide Species They Express. [PDF]

Int J Mol Sci
Sugawara S, Kikuchi K, Tatsuta T, Fujimura T, Hosono M.   +4 more
europepmc   +1 more source