Zobrazeno 1 - 10
of 135
pro vyhledávání: '"Bianca Seminotti"'
Autor:
Rachel Wolfe, Paige Heiman, Olivia D'Annibale, Anuradha Karunanidhi, Alyssa Powers, Marianne Mcguire, Bianca Seminotti, Steven F. Dobrowolski, Miguel Reyes-Múgica, Kathryn S. Torok, Al-Walid Mohsen, Jerry Vockley, Lina Ghaloul-Gonzalez
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 33, Iss , Pp 100932- (2022)
Autoimmune Disease, Multisystem, with Facial Dysmorphism (ADMFD) is an autosomal recessive disorder due to pathogenic variants in the ITCH gene. It is characterized by failure to thrive, dysmorphic facial features, developmental delay, and systemic a
Externí odkaz:
https://doaj.org/article/9763ee3b6cd345f3adadf389b4604dbf
Autor:
Nícolas Manzke Glänzel, Belisa Parmeggiani, Mateus Grings, Bianca Seminotti, Morgana Brondani, Larissa D. Bobermin, César A. J. Ribeiro, André Quincozes-Santos, Jerry Vockley, Guilhian Leipnitz
Publikováno v:
Cells, Vol 12, Iss 12, p 1557 (2023)
Sulfite predominantly accumulates in the brain of patients with isolated sulfite oxidase (ISOD) and molybdenum cofactor (MoCD) deficiencies. Patients present with severe neurological symptoms and basal ganglia alterations, the pathophysiology of whic
Externí odkaz:
https://doaj.org/article/ffe6e30328024464a374427db0517c37
Publikováno v:
Frontiers in Cellular Neuroscience, Vol 15 (2021)
Inherited metabolic disorders (IMDs) are rare genetic conditions that affect multiple organs, predominantly the central nervous system. Since treatment for a large number of IMDs is limited, there is an urgent need to find novel therapeutical targets
Externí odkaz:
https://doaj.org/article/35e0b41a75c444569c68f800a18d11db
Autor:
Morgana Brondani, Ana Cristina Roginski, Rafael Teixeira Ribeiro, Maria Paula de Medeiros, Chrístofer Ian Hernandez Hoffmann, Moacir Wajner, Guilhian Leipnitz, Bianca Seminotti
Publikováno v:
Toxicology Letters. 381:48-59
Autor:
Leipnitz, Nícolas Manzke Glänzel, Belisa Parmeggiani, Mateus Grings, Bianca Seminotti, Morgana Brondani, Larissa D. Bobermin, César A. J. Ribeiro, André Quincozes-Santos, Jerry Vockley, Guilhian
Publikováno v:
Cells; Volume 12; Issue 12; Pages: 1557
Sulfite predominantly accumulates in the brain of patients with isolated sulfite oxidase (ISOD) and molybdenum cofactor (MoCD) deficiencies. Patients present with severe neurological symptoms and basal ganglia alterations, the pathophysiology of whic
Autor:
Maria Elisa Calcagnotto, Bianca Seminotti, Mayara Vendramin Pasquetti, Michael Woontner, Moacir Wajner, Letícia Barbieri Caus
Publikováno v:
Journal of Neuroscience Research. 100:992-1007
Glutaric acidemia type I (GA-I) is an inborn error of metabolism of lysine, hydroxylysine, and tryptophan, caused by glutaryl-CoA-dehydrogenase (GCDH) deficiency, characterized by the buildup of toxic organic acids predominantly in the brain. After a
Autor:
Thabata Fernandes, Ângela Zanatta, Rafael Teixeira Ribeiro, Bianca Seminotti, Guilhian Leipnitz, Ana Cristina Roginski, Moacir Wajner, Kaleb Pinto Spannenberger, Lucas Henrique Rodrigues da Silva, Alexandre Umpierrez Amaral
Publikováno v:
Journal of Bioenergetics and Biomembranes. 53:525-539
S-adenosylmethionine (AdoMet) predominantly accumulates in tissues and biological fluids of patients affected by liver dysmethylating diseases, particularly glycine N-methyltransferase, S-adenosylhomocysteine hydrolase and adenosine kinase deficienci
Autor:
Shakuntala Basu, Bianca Seminotti, Xuejun Zhao, Al-Walid Mohsen, Eric S. Goetzman, Jerry Vockley
Publikováno v:
Molecular Genetics and Metabolism. 138:107391
Publikováno v:
Molecular Genetics and Metabolism. 138:107481
Publikováno v:
Biochemical Pharmacology. 209:115433