Results 41 to 50 of about 30,590 (168)

Globotriaosylsphingosine accumulation and not alpha-galactosidase-A deficiency causes endothelial dysfunction in Fabry disease.

PLoS ONE, 2012
BackgroundFabry disease (FD) is caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (GLA) resulting in the accumulation of globotriaosylsphingosine (Gb3) in a variety of tissues.
Mehdi Namdar, Catherine Gebhard, Rafael Studiger, Yi Shi, Pavani Mocharla, Christian Schmied, Pedro Brugada, Thomas F Lüscher, Giovanni G Camici   +8 more
doaj   +1 more source

SGLT2 Inhibitors and Cardiovascular Outcomes in Patients With Fabry Disease: Observations From a Federated Research Network

Diabetes, Obesity and Metabolism, EarlyView.
ABSTRACT Background and Aim Fabry disease (FD) is frequently complicated by renal impairment and cardiovascular events; however, evidence on sodium–glucose cotransporter‐2 inhibitors (SGLT2i) in this population is scarce. Accordingly, we assessed the association between SGLT2i exposure and cardiovascular outcomes in adults with FD. Methods We conducted
Leandra Serio, Michele Rossi, Amir Askarinejad, Enrico Tartaglia, Tommaso Bucci, Enrica Marrone, Dinesh K. Kalra, Claudio Ferri, Gregory Y. H. Lip   +8 more
wiley   +1 more source

Modeling Downside Risks for China's Security Markets: Does Greenness Make Bonds a Safer Haven?

Scottish Journal of Political Economy, EarlyView.
ABSTRACT Motivated by its current defective governance regime and institutional characteristics of green finance, this study models Value‐at‐Risk and Expected Shortfall of security markets for China. We extend Patton et al.'s (2019) models by introducing four exogenous risk factors including China's climate policy uncertainty (CCPU).
Xiao‐Ming Li
wiley   +1 more source

A CRISPR Screen Identifies LAPTM4A and TM9SF Proteins as Glycolipid-Regulating Factors

iScience, 2019
Summary: Glycosphingolipids (GSLs) are produced by various GSL-synthesizing enzymes, but post-translational regulation of these enzymes is incompletely understood.
Toshiyuki Yamaji, Tsuyoshi Sekizuka, Yuriko Tachida, Chisato Sakuma, Kanta Morimoto, Makoto Kuroda, Kentaro Hanada   +6 more
doaj   +1 more source

Systematic gene therapy derived from an investigative study of AAV2/8 vector gene therapy for Fabry disease

Orphanet Journal of Rare Diseases, 2023
Background Fabry disease (FD) is a progressive multisystemic disease characterized by a lysosomal enzyme deficiency. A lack of α-galactosidase A (α-Gal A) activity results in the progressive systemic accumulation of its substrates, including ...
Mulan Deng, Hongyu Zhou, Shaomei He, Haoheng Qiu, Yanping Wang, April Yuanyi Zhao, Yunping Mu, Fanghong Li, Allan Zijian Zhao   +8 more
doaj   +1 more source

Cellular Lyso-Gb3 Is a Biomarker for Mucolipidosis II

International Journal of Molecular Sciences
Lysosomal storage diseases are caused by defective lysosomal function, such as impaired lysosomal enzyme activities, which include more than 70 different diseases. Although biomarkers and therapies have been developed to date for some of them, many others remain challenging to diagnose and treat.
Seigo Terawaki, Hiroki Nakanishi, Toko Shibuya, Norio Sakai, Takanobu Otomo   +4 more
openaire   +2 more sources

Identification of a Shiga toxin A‐derived peptide internalized into Gb3 receptor‐bearing cells via interaction with the Shiga toxin B subunit

FEBS Letters, Volume 600, Issue 19, Page 2961-2971, October 2026.
The process of internalization of the Shiga toxin A subunit via formation of a complex with the Shiga toxin B subunit, which specifically binds to the Gb3 receptor. The peptide is designed to act as a carrier of drugs into cancer cells. Here, we explored the potential of peptides derived from the catalytic A subunit of Shiga toxin (STxA) to be drug ...
Giulia Opassi, João C. Encarnação, Valeria Napolitano, Grzegorz Dubin, Grzegorz Popowicz, Karl Andersson, U. Helena Danielson   +6 more
wiley   +1 more source

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
openaire   +4 more sources

AAV2/6 Gene Therapy in a Murine Model of Fabry Disease Results in Supraphysiological Enzyme Activity and Effective Substrate Reduction

Molecular Therapy: Methods & Clinical Development, 2020
Fabry disease is an X-linked lysosomal storage disorder caused by mutations in the alpha-galactosidase A (GLA) gene, which encodes the exogalactosyl hydrolase, alpha-galactosidase A (α-Gal A).
Makiko Yasuda, Marshall W. Huston, Silvere Pagant, Lin Gan, Susan St. Martin, Scott Sproul, Daniel Richards, Stephen Ballaron, Khaled Hettini, Annemarie Ledeboer, Lillian Falese, Liching Cao, Yanmei Lu, Michael C. Holmes, Kathleen Meyer, Robert J. Desnick, Thomas Wechsler   +16 more
doaj   +1 more source

Systematic Analysis of Plasma‐Derived Extracellular Vesicle‐Enriched Samples in Age‐Related Macular Degeneration Reveals Oxidative Stress Linked to Altered Lipid and Protein Profiles

Journal of Extracellular Biology, Volume 5, Issue 9, September 2026.
ABSTRACT Vision impairment caused by age‐related macular degeneration (AMD) is a global health priority. Retinal pathology is driven by ageing and exacerbated by genetic and environmental risk factors. Peripheral blood circulation is increasingly recognised as a contributor to disease initiation and progression, and a source of biomarkers to support ...
Marzena Kurzawa‐Akanbi, Jennifer Haggarty, Carina Hansohn, Mohamed T. Patel, Angela J. Cree, Peisi Teo, Milly Armstrong, Nathan Coles, Mark Platt, Helen Griffiths, Heather J. Cordell, Ahmad Khundakar, Pola Goldberg Oppenheimer, Phillip Whitfield, Andrew Lotery, Henning Urlaub, Sina Mozaffari‐Jovin, Majlinda Lako   +17 more
wiley   +1 more source