Results 11 to 20 of about 7,193 (177)

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

Human Molecular Genetics, 2023
Abstract 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 closer association with disease severity.
Nikolaenko, Valeria, Warnock, David G, Mills, Kevin, Heywood, Wendy E   +3 more
core   +6 more sources

Lyso-Gb3 associates with adverse long-term outcome in patients with Fabry disease [PDF]

Journal of Medical Genetics, 2021
Background Fabry disease (FD) is a rare X-linked lysosomal storage disease caused by mutations in the α-galactosidase A gene (GLA) leading to deficiency of α-galactosidase A and ultimately in progressive glycosphingolipid accumulation, especially globotriaosylceramide (Gb3) and its deacylated derivative ...
Nowak, Albina, Beuschlein, Felix, Sivasubramaniam, Visnuka, Kasper, David, Warnock, David G   +4 more
core   +6 more sources

Lyso-Gb3 modulates the gut microbiota and decreases butyrate production [PDF]

Scientific Reports, 2019
AbstractFabry disease is a rare X-linked lysosomal storage disorder resulting from deficient activity of α-galactosidase A, leading to the accumulation of glycosphingolipids such as globotriaosylsphingosine (lyso-Gb3). The gastrointestinal symptoms of this disease may be disabling, and the life expectancy of affected patients is shortened by kidney and
John-Jairo Aguilera-Correa, Patricia Madrazo-Clemente, María del Carmen Martínez-Cuesta, Carmen Peláez, Alberto Ortiz, María Dolores Sánchez-Niño, Jaime Esteban, Teresa Requena   +7 more
core   +6 more sources

Determination of Gb3 and Lyso-Gb3 in Fabry Disease-Affected Patients by LC-MRM/MS

Separations
Limited or absent activity of the enzyme α-galactosidase A (α-Gal A), due to mutation in the related gene on the X chromosome, leads to the development of a rare hereditary and genetic disease known as Fabry disease (FD).
Gennaro Battaglia, Gabriella Pinto, Carolina Fontanarosa, Michele Spinelli, Anna Illiano, Stefania Serpico, Lorenzo Chiariotti, Roberta Risoluti, Stefano Materazzi, Angela Amoresano   +9 more
doaj   +4 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 [PDF]

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   +3 more sources

Publisher Correction: Lyso-Gb3 modulates the gut microbiota and decreases butyrate production [PDF]

Scientific Reports, 2020
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
John-Jairo Aguilera-Correa, Patricia Madrazo-Clemente, María del Carmen Martínez-Cuesta, Carmen Peláez, Alberto Ortiz, María Dolores Sánchez-Niño, Jaime Esteban, Teresa Requena   +7 more
openaire   +2 more sources

Clinical and Biochemical Improvement After Switching From Agalsidase Alfa to Beta in a Boy With Classic Fabry Disease: A Case Report. [PDF]

Clin Case Rep
ABSTRACT We described a 12‐year‐old boy with classic Fabry disease who was diagnosed through newborn screening. At age 6.2, he started agalsidase alfa based on evidence of subclinical organ involvement. At age 7.2, acroparesthesia subsequently developed.
Koga N, Yodogawa H, Sawada T, Mushimoto Y, Nagamitsu S, Nakamura K, Hirose S, Inoue T.   +7 more
europepmc   +2 more sources

Bridging Biochemical and Clinical Disease Burden in Fabry Disease: A Comparative Analysis of Lyso-Gb3, MSSI, DS3, and FASTEX [PDF]

Int J Mol Sci
Fabry disease is a rare X-linked lysosomal storage disorder characterized by progressive glycosphingolipid accumulation and multisystem organ involvement. Globotriaosylsphingosine (Lyso-Gb3) has emerged as a promising biomarker of disease burden; however,
Sadettin Ozturk, Elif Melis Baloğlu Akyol   +1 more
core   +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

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