Zobrazeno 1 - 10
of 1 641
pro vyhledávání: '"mitochondrial disorders"'
Autor:
Sara El Guessabi, Redouane Abouqal, Azeddine Ibrahimi, Ghizlane Zouiri, Fatima Sfifou, Josef Finsterer, Yamna Kriouile
Publikováno v:
Heliyon, Vol 10, Iss 21, Pp e39648- (2024)
Due to their variable phenotypes, mitochondrial disorders (MDs) can be difficult to diagnose. The absolute load lactate stress test (LSTA) and the relative load lactate stress test (LSTR) have been shown to be useful screening tools for the detection
Externí odkaz:
https://doaj.org/article/a907e169e2b3468e9072b0926cc7837d
Autor:
Ilya I. Amergoolov, Yulia I. Khruleva, Maria G. Pavlova, Natalia V. Likhodey, Abu M. Sulaev, Elena V. Surkova, Yulia P. Sych, Marina F. Kalashnikova, Anna S. Arustamyan, Gratsinna A. Martirosyan, Simione T. Lew-Gor
Publikováno v:
European Journal of Translational Myology (2024)
Kearns-Sayre Syndrome (KSS) is a variant of mitochondrial disorder caused by a Mitochondrial Deoxyribonucleic Acid (mtDNA) deletion. Clinical manifestations of KSS can include different organ and system involvement. Different organ malfunctions, more
Externí odkaz:
https://doaj.org/article/6eee8dea7bae4ea29c63fa74e4da5bb2
Publikováno v:
JIMD Reports, Vol 65, Iss 2, Pp 102-109 (2024)
Abstract Ferredoxin‐2 (FDX2) is an electron transport protein required for iron–sulfur clusters biosynthesis. Pathogenic variants in FDX2 have been associated with autosomal recessive FDX2‐related disorder characterized by mitochondrial myopath
Externí odkaz:
https://doaj.org/article/58f5ede61b154c5a8b176c8c42ec6992
Autor:
Francesca Forini, Elena Levantini, Emilia Bramanti, Filippo Maria Santorelli, Azhar Ali, Vincenzo Lionetti, Milena Rizzo
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
Externí odkaz:
https://doaj.org/article/47e51175584d4546aa119e8405c87287
Autor:
Jingyan Shen, Pengfei Xie, Junhan Wang, Fan Yang, Shengjie Li, Haitao Jiang, Xuefeng Wu, Feng Zhou, Jianmei Li
Publikováno v:
Redox Biology, Vol 73, Iss , Pp 103196- (2024)
Hippocampal neural stem/progenitor cells (NSPCs) are highly vulnerable to different stress stimuli, resulting in adult neurogenesis decline and eventual cognitive defects. Our previous study demonstrated that NOD-like receptor family pyrin domain-con
Externí odkaz:
https://doaj.org/article/2d48a00d61c744cea138067837316e99
Autor:
Álvaro Antolínez-Fernández, Paula Esteban-Ramos, Miguel Ángel Fernández-Moreno, Paula Clemente
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 12 (2024)
Mitochondria play a central role in cellular metabolism producing the necessary ATP through oxidative phosphorylation. As a remnant of their prokaryotic past, mitochondria contain their own genome, which encodes 13 subunits of the oxidative phosphory
Externí odkaz:
https://doaj.org/article/71646b5527a84b97923d1aec48187466
Autor:
Wei-Lin Huang, Maija R. Steenari, Rebekah Barrick, Mariella T. Simon, Richard Chang, Shaya S. Eftekharian, Alexander Stover, Philip H. Schwartz, Alexandra Latini, Jose E. Abdenur
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101025- (2024)
Background: LBSL is a mitochondrial disorder caused by mutations in the mitochondrial aspartyl-tRNA synthetase gene DARS2, resulting in a distinctive pattern on brain magnetic resonance imaging (MRI) and spectroscopy. Clinical presentation varies fro
Externí odkaz:
https://doaj.org/article/1a45fc52d11a4d23afe8ed165c1b53b1
Publikováno v:
BMC Ophthalmology, Vol 23, Iss 1, Pp 1-9 (2023)
Abstract Diabetic retinopathy is one of the most common and serious microvascular complications of diabetes mellitus. There are many factors leading to diabetic retinopathy, and its pathogenesis is still unclear. At present, there are still no effect
Externí odkaz:
https://doaj.org/article/4ccbdbc1543a4a14bc30878374810239
Publikováno v:
BMC Neurology, Vol 23, Iss 1, Pp 1-6 (2023)
Abstract Background Chronic progressive external ophthalmoplegia (CPEO) is a mitochondrial disease with slowly progressive bilateral ptosis and symmetric ophthalmoplegia due to a genetic mutation that results in defective oxidative phosphorylation. C
Externí odkaz:
https://doaj.org/article/0a884e6502d64c58b94e937e28bebdb5
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-9 (2023)
Abstract Background and objectives Mitochondrial diseases present as multi-system disorders requiring a comprehensive multidisciplinary approach. The data on healthcare resource utilization associated with mitochondrial diseases and the clinical driv
Externí odkaz:
https://doaj.org/article/322e59d99d3d4f91a32b4fbf7c85d360