Results 41 to 50 of about 518,253 (265)

Is Beta Ketothiolase Deficiency an Uncommon Disease or an Unsuspected Diagnosis? The Role of Genetic Biochemistry Approaches in Metabolic Acidosis

Pediatric Reports
Beta ketothiolase deficiency is a hereditary metabolic disorder caused by the pathogenic variants of the ACAT gene, which encodes for the mitochondrial enzyme acetoacetyl-CoA thiolase.
Luis D. Campos-Acevedo, Joel Arenas-Estala, Marisol Ibarra-Ramírez, Graciela A. López-Uriarte, María C. Ruíz-Herrera, Marcelo Rodríguez-Rivera, Laura E. Martínez-de-Villarreal   +6 more
doaj   +1 more source

Fabry disease screening in kidney transplant patients: A single-center study in Türkiye

Gülhane Tıp Dergisi, 2022
Aims:This study aimed to screen for Fabry disease in adult kidney transplant patients at a nephrology clinic in Türkiye.Methods:This cross-sectional, single-center study prospectively enrolled kidney transplant recipients regardless of the etiology of ...
Şeyma Meriç Aktaş, Gülay Ulusal Okyay, Tamer Selen, Kadir Gökhan Atılgan, Mehmet Deniz Ayli   +4 more
doaj   +1 more source

Valosin‐containing protein counteracts ATP‐driven dissolution of FUS condensates through its ATPase activity in vitro

FEBS Letters, EarlyView.
Biomolecular condensates formed by fused in sarcoma (FUS) are dissolved by high ATP concentrations yet persist in cells. Using a reconstituted system, we demonstrate that valosin‐containing protein (VCP), an AAA+ ATPase, counteracts ATP‐driven dissolution of FUS condensates through its D2 ATPase activity.
Hitomi Kimura, Shin‐ichi Tate, Kyota Yasuda   +2 more
wiley   +1 more source

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

Degradation mechanism of the von Willebrand factor A2 domain by nattokinase

FEBS Letters, EarlyView.
Nattokinase, a natto‐derived protease, exhibits potent antithrombotic effects. This study demonstrates that nattokinase directly cleaves the von Willebrand factor (vWF) A2 domain in vitro. Unlike the native regulator ADAMTS13, nattokinase degrades folded vWF independently of shear stress.
Ryuichi Hyakumoto, Masatomo So, Ayako Furukawa, Kenji Sugase   +3 more
wiley   +1 more source

Nonalcoholic Fatty Liver Disease in Canadian First Nations and Non-First Nations Patients

Canadian Journal of Gastroenterology and Hepatology, 2016
Background. Features of nonalcoholic fatty liver disease (NAFLD) have yet to be described in the Canadian First Nations (FN) population. The aim of this study was to compare the prevalence, severity, and outcome of NAFLD in FN versus non-FN patients at ...
Julia Uhanova, Gerald Minuk, Federico Lopez Ficher, Natasha Chandok   +3 more
doaj   +1 more source

Salmonella lipopolysaccharide‐containing supported lipid bilayers as platforms to study bacteriophage interactions

FEBS Letters, EarlyView.
We present robust protocols for the preparation of supported lipid bilayers (SLBs) incorporating either Salmonella smooth LPS or outer membrane vesicles (OMVs). We use a combination of quartz crystal microbalance with dissipation (QCM‐D) and fluorescence microscopy to both characterize the SLBs of various compositions and to probe their interactions ...
Hudson P. Pace, Alyssa Borges, Charles Arnaud, Tove Karlsson, Nina K. Bröker, Stefanie Barbirz, Marta Bally   +6 more
wiley   +1 more source

Discrepancies and consequences of indirect hemagglutination, indirect immunofluorescence and Elisa tests for the diagnosis of Chagas disease

Revista do Instituto de Medicina Tropical de São Paulo, 2012
Using the indirect hemagglutination (IH), indirect immunofluorescence (IIF) and enzyme linked immunosorbent assay (ELISA) tests for the diagnosis of Chagas disease, 4000 serum samples were examined.
Regina Maia de Souza, Vicente Amato Neto
doaj   +1 more source

Phosphoinositides and inositol phosphates as molecular glues

FEBS Letters, EarlyView.
Inositol phosphates (IPs) and phosphoinositides (PIPs) regulate diverse eukaryotic processes. Beyond recruiting signaling proteins or acting as structural cofactors, recent studies suggest they mediate protein–protein interactions as natural molecular glues.
Aleshia Seaton‐Terry, Alexander J. Cutright, Mong Na Claire Loi, Jessica Martin, Joseph W. Gilligan, Jakub N. Kubina, Michael J. Arambula, Susanna Tanada Palmu, Daniella Zhou, Raymond D. Blind   +9 more
wiley   +1 more source

New perspectives for use of gamma-glutamyltranspeptidase in clinical enzymes tests

The Scientific Notes of the I. P. Pavlov St. Petersburg State Medical University, 2016
Gamma-glutamyltranspeptidase (GGTP), isolated from a variety of sources from microorganisms to mammals, including human blood and organs, has been studied sufficiently detailed, which allowed to take a fresh look at the role of this enzyme in cellular metabolism, the pathogenesis of several diseases and its application in clinical medicine.
openaire   +3 more sources