Results 81 to 90 of about 3,830 (166)

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 diseased and isogenic control human induced pluripotent stem cell lines MHHi043-A & MHHi043-B from a female Fabry disease patient carrying c.644A > G missense mutation

Stem Cell Research
Fabry disease (FD) is a monogenic, X-linked lysosomal storage disorder originating from mutations in the GLA gene, which encodes alpha-galactosidase A.
Nick Heise, Carla Borisch, Christopher Jahn, Kristina Sonnenschein, Nataliya Di Donato, Anika Gietz, Theresa Buchegger, Nico Lachmann, Christian Bär, Thomas Thum, Jeannine Hoepfner, Malte Juchem   +11 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 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

Automated quantification of skin Gb3 load and white matter lesion assessment in Fabry disease. [PDF]

Orphanet J Rare Dis
Pfister C, Schindehütte M, Erbacher C, Klein T, Rost S, Lang AC, Pham M, Nordbeck P, Wanner C, Sommer C, Üçeyler N.   +10 more
europepmc   +1 more source

Generation of two induced pluripotent stem cell lines from Fabry disease patients carrying GLA mutations. [PDF]

Stem Cell Res
Patra D, Cabrera DGT, Yang X, Walther P, Mukherjee S, Sampson J, Wu JC.   +6 more
europepmc   +1 more source

Cardiomegaly of Unknown Origin: Why Morphology Still Matters in the Genetic Era - A Case of Cardiac Fabry Disease. [PDF]

Medeni Med J
Makarov I, Roy Y, Mitrofanova L.
europepmc   +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

Fabry Disease Diagnosed With Lung Nodule: A Unique Presentation in a Young Female Patient. [PDF]

Cureus
Joppich J, Mehta S, Mandavilli N, Rojas Alvarez F, Mehta V.   +4 more
europepmc   +1 more source