Results 21 to 30 of about 31,524 (206)

Gb3-binding lectins as potential carriers for transcellular drug delivery

Expert Opinion on Drug Delivery, 2017
Objectives: Epithelial cell layers as well as endothelia forming the blood-brain barrier can drastically reduce the efficiency of drug targeting. Our goal was to investigate lectins recognizing the glycosphingolipid globotriaosylceramide (Gb3) for their potential as carriers for transcytotic drug delivery.
Stefan K. Mueller, Isabel Wilhelm, Thomas Schubert, Katharina I. Zittlau, A. Imberty, J. Madl, T. Eierhoff, Roland Thuenauer, W. Römer   +8 more
semanticscholar   +5 more sources

High Lyso-Gb3 Plasma Levels Associated with Decreased miR-29 and miR-200 Urinary Excretion in Young Non-Albuminuric Male Patient with Classic Fabry Disease

Case Reports in Nephrology, 2019
Renal involvement is associated with a greater morbidity and mortality in Fabry disease. Pathological albuminuria, the first Fabry nephropathy clinical manifestation, can occur from early childhood, although histological lesions such as tubulo ...
Sebastián Jaurretche, Germán R. Perez, Graciela Venera   +2 more
doaj   +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

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

Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease

Molecular Genetics and Metabolism, 2017
Robert Desnick, Albina Nowak, Thomas Mechtler   +2 more
exaly   +2 more sources

Proteomic analysis unveils Gb3-independent alterations and mitochondrial dysfunction in a gla−/− zebrafish model of Fabry disease

Journal of Translational Medicine, 2023
Background Fabry disease (FD) is a rare lysosomal storage disorder caused by mutations in the GLA gene, resulting in reduced or lack of α-galactosidase A activity.
H. Elsaid, M. Rivedal, E. Skandalou, E. Svarstad, C. Tøndel, Even Birkeland, Ø. Eikrem, J. Bábíčková, H. Marti, Jessica Furriol   +9 more
semanticscholar   +1 more source

Elucidating the toxic effect and disease mechanisms associated with Lyso-Gb3 in Fabry disease

Human Molecular Genetics, 2023
Fabry disease stems from a deficiency of alpha-galactosidase and results in the accumulation of globotriaosylceramide (Gb3). However, the production of its deacylated form globotriaosylsphingosine (lyso-Gb3) is also observed and its plasma levels have ...
Valeria Nikolaenko, D. Warnock, K. Mills, W. Heywood   +3 more
semanticscholar   +1 more source

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   +1 more source

GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals

American Journal of Human Genetics, 2023
Summary Recent studies in non-human model systems have shown therapeutic potential of nucleoside-modified messenger RNA (modRNA) treatments for lysosomal storage diseases.
M. ter Huurne, Benjamin L. Parker, Ning Qing Liu, E. Qian, Céline J. Vivien, K. Karavendzas, R. Mills, Jennifer T. Saville, Dad Abu-Bonsrah, Andrea F. Wise, James E. Hudson, A. Talbot, P. Finn, P. Martini, M. Fuller, S. Ricardo, K. Watt, Kathleen Nicholls, E. Porrello, D. Elliott   +19 more
semanticscholar   +1 more source

Signal Peptide Engineering and Codon Optimization to Enhance α-Gal A Activity for rAAV Gene Therapy of Fabry Disease. [PDF]

J Inherit Metab Dis
ABSTRACT Fabry disease is an X‐linked lysosomal storage disorder caused by mutations in the GLA gene, leading to deficient α‐galactosidase A (α‐Gal A) activity and pathological accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (Lyso‐Gb3) in various organs.
He S, Yang L, Wan K, Zheng Z, Leng M, Gan C, Liu Y, Xiao L, Ye J, Chen Z, Zhou J, Valencia CA, Abuammah A, Chow HY, Dong B, Chen Y.   +15 more
europepmc   +2 more sources