Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Sidney Behringer"'
Autor:
Giovana Regina Weber Hoss, Fernanda Sperb-Ludwig, Tássia Tonon, Soraia Poloni, Sidney Behringer, Henk J. Blom, François Maillot, Ida Vanessa Doederlein Schwartz
Publikováno v:
Genetics and Molecular Biology, Vol 46, Iss 3 suppl 1 (2024)
Abstract Hyperhomocysteinemia and vitamin B12 deficiency have been reported in patients with phenylketonuria. In this study, total homocysteine (tHcy) and methylmalonic acid (MMA) levels were analyzed in samples from 25 phenylketonuria (PKU) patients
Externí odkaz:
https://doaj.org/article/78b8aa0bac9f4db58469ead2acc98901
Autor:
Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal, Ida Vanessa Doederlein Schwartz
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-10 (2020)
Abstract Background Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C. Clinically, GD manif
Externí odkaz:
https://doaj.org/article/8f5783abb437443786ed30ecf4860d10
Autor:
Safak Caglayan, Adnan Hashim, Artur Cieslar-Pobuda, Vidar Jensen, Sidney Behringer, Burcu Talug, Dinh Toi Chu, Christian Pecquet, Marie Rogne, Andreas Brech, Sverre Henning Brorson, Erlend Arnulf Nagelhus, Luciana Hannibal, Antonella Boschi, Kjetil Taskén, Judith Staerk
Publikováno v:
iScience, Vol 23, Iss 6, Pp 101154- (2020)
Summary: Optic atrophy 1 (OPA1), a GTPase at the inner mitochondrial membrane involved in regulating mitochondrial fusion, stability, and energy output, is known to be crucial for neural development: Opa1 heterozygous mice show abnormal brain develop
Externí odkaz:
https://doaj.org/article/9248b383f4e842619c893fcc3e3a5bfd
Publikováno v:
Journal of Lipid Research, Vol 58, Iss 1, Pp 196-207 (2017)
A rather new approach in the treatment of long-chain fatty acid oxidation disorders is represented by triheptanoin, a triglyceride with three medium-odd-chain heptanoic acids (C7), due to its anaplerotic potential. We here investigate the effects of
Externí odkaz:
https://doaj.org/article/5bd1a6336ca44d8a9a0ae55e7b0f3e81
Mimicking Ketonuria in the Ketogenesis Defect 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)
3-Hydroxy-3-methylglutaryl-coenzyme A lyase (HMGCL, HMGCL ) deficiency is a rare inborn error of ketogenesis. Even if the ketogenic enzyme is fully disrupted, an elevated signal for the ketone body acetoacetic acid is a frequent observation in the an
Externí odkaz:
https://doaj.org/article/56dcaa70f2634435a71c9df837a67bcb
Autor:
Ann-Kathrin Lederer, Luciana Hannibal, Manuel Hettich, Sidney Behringer, Ute Spiekerkoetter, Carmen Steinborn, Carsten Gründemann, Amy Marisa Zimmermann-Klemd, Alexander Müller, Thomas Simmet, Michael Schmiech, Andrea Maul-Pavicic, Yvonne Samstag, Roman Huber
Publikováno v:
Nutrients, Vol 11, Iss 11, p 2815 (2019)
Vegans are at an increased risk for certain micronutrient deficiencies, foremost of vitamin B12. Little is known about the short-term effects of dietary change to plant-based nutrition on vitamin B12 metabolism. Systemic biomarkers of vitamin B12 sta
Externí odkaz:
https://doaj.org/article/2b133b1bfd3a4156b7d462b78f52103a
Autor:
Luciana Hannibal, Vegard Lysne, Anne-Lise Bjørke-Monsen, Sidney Behringer, Sarah C. Grünert, Ute Spiekerkoetter, Donald W. Jacobsen, Henk J. Blom
Publikováno v:
Frontiers in Molecular Biosciences, Vol 4 (2017)
Externí odkaz:
https://doaj.org/article/7b2efb89e2114bc0b79c148f19279d37
Autor:
Sidney Behringer, Victoria Wingert, Victor Oria, Anke Schumann, Sarah Grünert, Artur Cieslar-Pobuda, Stefan Kölker, Ann-Kathrin Lederer, Donald W. Jacobsen, Judith Staerk, Oliver Schilling, Ute Spiekerkoetter, Luciana Hannibal
Publikováno v:
Metabolites, Vol 9, Iss 10, p 235 (2019)
The concentration of thiol and thioether metabolites in plasma has diagnostic value in genetic diseases of B-vitamin metabolism linked to methionine utilization. Among these, cysteine/cystine (Cys/CSSC) and glutathione/oxidized glutathione (GSH/GSSG)
Externí odkaz:
https://doaj.org/article/fba51ab126f44115ba1a559da4aa134b
Autor:
Filippo Vairo, Sidney Behringer, Ute Spiekerkoetter, Ida Vanessa Doederlein Schwartz, Suelen Porto Basgalupp, Karina Carvalho Donis, Luciana Hannibal, Louise Lapagesse de Camargo Pinto, Osvaldo Alfonso Pinto Artigalas, Marina Siebert
Publikováno v:
American Journal of Medical Genetics Part A. 185:2471-2476
Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of β-glucocerebrosidase. Based on the presence and severity of neurological complications, GD is classified into types I, II (the most severe form), and III. A
Autor:
Artur Cieslar-Pobuda, Judith Staerk, Safak Caglayan, Luciana Hannibal, Theresa D. Ahrens, Sidney Behringer
Publikováno v:
Stem Cells. 38:1409-1422
Embryonic stem cell renewal and differentiation is regulated by metabolites that serve as cofactors for epigenetic enzymes. An increase of α-ketoglutarate (α-KG), a cofactor for histone and DNA demethylases, triggers multilineage differentiation in