Results 81 to 90 of about 3,683 (169)

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

Rapamycin Autophagy Enhancement for Globotriaosylceramide Clearance

Rapamycin inhibits mTORC1 kinase activity leading to TFEB dephosphorylation and nuclear translocation, dramatically upregulating lysosomal biogenesis genes including LAMP1, LAMP2, and cathepsin D. Enhanced autophagy flux promotes clearance of accumulated Gb3 deposits while rapamycin's anti-inflammatory properties reduce chronic activation of microglia ...
openaire   +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

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

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

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

Historical Control Analysis Demonstrates Greater Long-Term Reduction in Plasma Globotriaosylceramide (Gb3) by Venglustat Compared With Placebo or Agalsidase Beta in Male Patients With Classic Fabry Disease. [PDF]

Mol Genet Genomic Med
Germain DP, DasMahapatra P, Liu S, Deegan P, Ortiz A, Modur V, Wilcox WR.   +6 more
europepmc   +1 more source

Hydroxychloroquine-induced renal phospholipidosis manifesting as proximal tubulopathy in systemic lupus erythematosus. [PDF]

BMC Nephrol
Manabe S, Seki M, Ushio Y, Ochiai M, Takahashi R, Kobayashi S, Makabe S, Ito N, Kataoka H, Taneda S, Honda K, Nitta K, Hoshino J.   +12 more
europepmc   +1 more source

Modeling Fabry nephropathy: insights from experimental systems towards precision nephrology. [PDF]

Dis Model Mech
Elsaid H, Furriol J, Eikrem Ø, Tøndel C, Svarstad E.   +4 more
europepmc   +1 more source