Zobrazeno 1 - 10
of 633
pro vyhledávání: '"Tafazzin"'
Publikováno v:
Frontiers in Cardiovascular Medicine, Vol 11 (2024)
Barth syndrome (BTHS) is a rare X-linked recessive genetic disorder characterized by a broad spectrum of clinical features including cardiomyopathy, skeletal myopathy, neutropenia, growth delay, and 3-methylglutaconic aciduria. This disease is caused
Externí odkaz:
https://doaj.org/article/c924f3763e0943468be6416a2682d174
Autor:
Malte Hachmann, Güntas Gülcan, Ranjithkumar Rajendran, Marcus Höring, Gerhard Liebisch, Akash Bachhuka, Michael Kohlhaas, Christoph Maack, Süleyman Ergün, Jan Dudek, Srikanth Karnati
Publikováno v:
Frontiers in Molecular Medicine, Vol 4 (2024)
Barth Syndrome (BTHS) is a rare X-linked disease, characterized clinically by cardiomyopathy, skeletal myopathy, neutropenia, and growth retardation. BTHS is caused by mutations in the phospholipid acyltransferase tafazzin (Gene: TAFAZZIN, TAZ). Tafa
Externí odkaz:
https://doaj.org/article/8c02a0957875418fa26b7054da7bdd55
Autor:
Arpita Chowdhury, Angela Boshnakovska, Abhishek Aich, Aditi Methi, Ana Maria Vergel Leon, Ivan Silbern, Christian Lüchtenborg, Lukas Cyganek, Jan Prochazka, Radislav Sedlacek, Jiri Lindovsky, Dominic Wachs, Zuzana Nichtova, Dagmar Zudova, Gizela Koubkova, André Fischer, Henning Urlaub, Britta Brügger, Dörthe M Katschinski, Jan Dudek, Peter Rehling
Publikováno v:
EMBO Molecular Medicine, Vol 15, Iss 9, Pp 1-21 (2023)
Abstract Mitochondria are central for cellular metabolism and energy supply. Barth syndrome (BTHS) is a severe disorder, due to dysfunction of the mitochondrial cardiolipin acyl transferase tafazzin. Altered cardiolipin remodeling affects mitochondri
Externí odkaz:
https://doaj.org/article/d06b0aeb0b084c3dae36b33896fa43c5
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
BackgroundBarth syndrome is a rare genetic disease characterized by cardiomyopathy, skeletal muscle weakness, neutropenia, growth retardation and organic aciduria. This variable phenotype is caused by pathogenic hemizygous variants of the TAFAZZIN ge
Externí odkaz:
https://doaj.org/article/3bdd3fe150f840d8b8f215eb54c7b32c
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Externí odkaz:
https://doaj.org/article/6df6de0732f74a088db3b20a6d77affa
Autor:
Michelle V. Tomczewski, John Z. Chan, Duaa M. Al-Majmaie, Ming Rong Liu, Alex D. Cocco, Ken D. Stark, Douglas Strathdee, Robin E. Duncan
Publikováno v:
Biology, Vol 12, Iss 9, p 1238 (2023)
Barth syndrome (BTHS) is caused by mutations in tafazzin resulting in deficits in cardiolipin remodeling that alter major metabolic processes. The tafazzin gene is encoded on the X chromosome, and therefore BTHS primarily affects males. Female carrie
Externí odkaz:
https://doaj.org/article/a6816bbca01e4a64aa89ac936befd020
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Barth syndrome (BTHS) is a rare X-linked recessive genetic disease, which appears in infancy with myocardial and skeletal muscle diseases, neutropenia, growth retardation, and other clinical features. TAFAZZIN is the pathogenic gene of BTHS, which en
Externí odkaz:
https://doaj.org/article/b98f5183ebdc4aa29da8d16d59314acd
Autor:
Deena Damschroder, Rubén Zapata-Pérez, Kristin Richardson, Frédéric M. Vaz, Riekelt H. Houtkooper, Robert Wessells
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 10 (2022)
Externí odkaz:
https://doaj.org/article/f425bf018ea64b7a81edbc0521ac9cf9
Akademický článek
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Autor:
Gayatri Jagirdar, Matthias Elsner, Christian Scharf, Stefan Simm, Katrin Borucki, Daniela Peter, Michael Lalk, Karen Methling, Michael Linnebacher, Mathias Krohn, Carmen Wolke, Uwe Lendeckel
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Externí odkaz:
https://doaj.org/article/6902018728e4466e9ce6c119e600b505