Results 21 to 30 of about 3,638 (152)

Long-Term Clinical-Pathologic Results of Enzyme Replacement Therapy in Prehypertrophic Fabry Disease Cardiomyopathy. [PDF]

J Am Heart Assoc
Background The limited ability of enzyme replacement therapy (ERT) in removing globotriaosylceramide from cardiomyocytes is recognized for advanced Fabry disease cardiomyopathy (FDCM).
Frustaci A, Verardo R, Galea N, Alfarano M, Magnocavallo M, Marchitelli L, Sansone L, Belli M, Cristina M, Frustaci E, Russo MA, Chimenti C.   +11 more
europepmc   +2 more sources

Epithelial-Mesenchymal Transition in Kidney Tubular Epithelial Cells Induced by Globotriaosylsphingosine and Globotriaosylceramide. [PDF]

PLoS ONE, 2015
Fabry disease is a lysosomal storage disorder caused by deficiency of alpha-galactosidase A (α-gal A), which results in the deposition of globotriaosylceramide (Gb3) in the vascular endothelium.
Yeo Jin Jeon, Namhee Jung, Joo-Won Park, Hae-Young Park, Sung-Chul Jung   +4 more
doaj   +5 more sources

The importance of a multidisciplinary approach in two tricky cases: the perfect match for Fabry disease. [PDF]

BMC Nephrol
Anderson-Fabry disease (AFD) is a multisystem X-linked lysosomal storage disorder caused by a deficiency in the enzyme α-galactosidase A (α-Gal A). This deficiency results in the intracellular accumulation of glycosphingolipids, primarily uncleaved ...
Berti GM, Aiello V, Vischini G, Lerario S, Ciurli F, Santostefano M, Donadio V, Biagini E, Fresina M, Fabbrizio B, Montanari F, Turchetti D, Pasquinelli G, Mignani R, La Manna G, Capelli I.   +15 more
europepmc   +2 more sources

Clinical heterogeneity in Fabry disease: A clinical case [PDF]

Ķazaķstannyṇ Klinikalyķ Medicinasy, 2023
Fabry disease is an orphan lysosomal storage disease characterized by progressive organ damage. Considering that the disease is rare, the low awareness of doctors about this pathology leads to late diagnosis of the disease and untimely pathogenetic ...
Assel Issabekova, Olga Mashkunova
doaj   +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
ABSTRACT Purpose To evaluate the disease biomarker response of venglustat in patients with Fabry disease (FD), utilizing data from a single‐arm phase 2 study of venglustat and a placebo‐controlled phase 3 study of agalsidase beta through historical control and case‐matched analyses. Methods Eleven venglustat‐treated male patients with classic FD in the
Germain DP, DasMahapatra P, Liu S, Deegan P, Ortiz A, Modur V, Wilcox WR.   +6 more
europepmc   +2 more sources

Liver Gene Therapy in Fabry Disease Mice With Low Doses of rAAV2/8 Expressing a Codon-Optimized hGLA cDNA Results in Long-Term Disease Correction. [PDF]

J Inherit Metab Dis
AAV‐mediated gene therapy targets the liver to produce and secrete into circulation functional α‐Gal A, which is taken up by tissues to reduce glycosphingolipid accumulation and prevent disease progression in juvenile Fabry mice, even at low AAV doses. ABSTRACT Fabry disease (FD) is an X‐linked lysosomal storage disorder caused by mutations in the GLA ...
Saxena H, Domenis R, Romano G, Biasizzo J, Ferro M, Ferino D, Vicidomini A, Iaconcig A, Bortolussi G, Zentilin L, Dardis A, Muro AF.   +11 more
europepmc   +2 more sources

Fabry nephropathy before and after enzyme replacement therapy: important role of renal biopsy in patients with Fabry disease [PDF]

Kidney Research and Clinical Practice, 2021
Background In Fabry disease, the presence of globotriaosylceramide (GL3) deposits in various kidney cells leads to progressive renal dysfunction. However, kidney biopsy studies in patients with Fabry disease are limited.
Il Young Kim, Hyun Jung Lee, Chong Kun Cheon   +2 more
doaj   +1 more source

Catfish Egg Lectin Enhances the Cytotoxicity of Sunitinib on Gb3-Expressing Renal Cancer Cells

Biomedicines, 2023
Metastatic renal cell carcinoma (RCC) is not sufficiently responsive to anticancer drugs, and thus, developing new drugs for advanced RCC remains vital.
Jun Ito, Shigeki Sugawara, Takeo Tatsuta, Masahiro Hosono, Makoto Sato   +4 more
doaj   +1 more source

Dysregulation of Immune Response Mediators and Pain-Related Ion Channels Is Associated with Pain-like Behavior in the GLA KO Mouse Model of Fabry Disease

Cells, 2022
Fabry disease (FD) is a rare life-threatening disorder caused by deficiency of the alpha-galactosidase A (GLA) enzyme with a characteristic pain phenotype.
Marlene Spitzel, Elise Wagner, Maximilian Breyer, Dorothea Henniger, Mehtap Bayin, Lukas Hofmann, Daniela Mauceri, Claudia Sommer, Nurcan Üçeyler   +8 more
doaj   +1 more source

Accumulation of globotriaosylceramide in a case of leiomyosarcoma [PDF]

Biochemical Journal, 1986
Analysis of the glycosphingolipid composition in one case of uterine leiomyosarcoma metastasized to the liver showed an accumulation of globotriaosylceramide as compared with normal liver and uterus from which the tumour originated. The structure and the amount of glycosphingolipids were established by using specific glycosidases, permethylation ...
S C, Li, S K, Kundu, R, Degasperi, Y T, Li   +3 more
openaire   +2 more sources