Zobrazeno 1 - 10
of 404
pro vyhledávání: '"NDUFS4"'
Autor:
Kevin Aguilar, Carla Canal, Gemma Comes, Sandra Díaz-Clavero, Maria Angeles Llanos, Albert Quintana, Elisenda Sanz, Juan Hidalgo
Publikováno v:
Journal of Inflammation, Vol 21, Iss 1, Pp 1-15 (2024)
Abstract Background Mitochondrial diseases (MDs) are genetic disorders characterized by dysfunctions in mitochondria. Clinical data suggest that additional factors, beyond genetics, contribute to the onset and progression of this group of diseases, b
Externí odkaz:
https://doaj.org/article/e80395c7d42c4dc5a3428950a817c4d3
Autor:
Chenxi Liu, Ruihua Huang, Guosheng Su, Liming Hou, Wuduo Zhou, Qian Liu, Zijian Qiu, Qingbo Zhao, Pinghua Li
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-14 (2023)
Abstract Background Eurasian pigs have undergone lineage admixture throughout history. It has been confirmed that the genes of indigenous pig breeds in China have been introduced into Western commercial pigs, providing genetic materials for breeding
Externí odkaz:
https://doaj.org/article/affd689966f5412ba51180de8677574f
Autor:
Arena Manning, Victor Han, Alexa Stephens, Rose Wang, Nicholas Bush, Michelle Bard, Jan M. Ramirez, Franck Kalume
Publikováno v:
Neurobiology of Disease, Vol 187, Iss , Pp 106288- (2023)
Mutations in the NADH dehydrogenase (ubiquinone reductase) iron‑sulfur protein 4 (NDUFS4) gene, which encodes for a key structural subunit of the OXFOS complex I (CI), lead to the most common form of mitochondrial disease in children known as Leigh
Externí odkaz:
https://doaj.org/article/da24b01d7ecd4de28f1662b36f291cd6
Akademický článek
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Autor:
Nastaran Daneshgar, Mariah R. Leidinger, Stephanie Le, Marco Hefti, Alessandro Prigione, Dao-Fu Dai
Publikováno v:
Frontiers in Neuroscience, Vol 16 (2023)
Neuroinflammation is one of the main mechanisms leading to neuronal death and dysfunction in neurodegenerative diseases. The role of microglia as primary mediators of inflammation is unclear in Leigh syndrome (LS) patients. This study aims to elucida
Externí odkaz:
https://doaj.org/article/dab6a427d3854ac5848e9afe3e7fecc0
Akademický článek
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Akademický článek
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Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Amyotrophic Lateral Sclerosis (ALS) is a complex polygenetic neurodegenerative disorder. Establishing a diagnosis for ALS is a challenging and lengthy process. By the time a diagnosis is made, the lifespan prognosis is only about two to 5 years. Gene
Externí odkaz:
https://doaj.org/article/db2f75e3fe3247d2810ba2d08fd391ed
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss , Pp 1071-1078 (2020)
Leigh syndrome, or infantile necrotizing subacute encephalopathy (OMIM #256000), is one of the most common manifestations of mitochondrial dysfunction, due to mutations in more than 75 genes, with mutations in respiratory complex I subunits being the
Externí odkaz:
https://doaj.org/article/8df2cebf8cc74595af229759906059a8
Autor:
Mohammad Vafaee‐Shahi, Saeide Ghasemi, Mehran Beiraghi Toosi, Mahmoud Reza Ashrafi, Reza Shervin Badv, Ali Reza Tavasoli, Leila Tahernia
Publikováno v:
Clinical Case Reports, Vol 9, Iss 9, Pp n/a-n/a (2021)
Abstract We report a patient with complex clinical presentation including multiple neurological symptoms and eye involvement. Upon genetic investigation, the patient was found to carry a novel homozygous mutation in the NDUFS4 gene, thus adding to th
Externí odkaz:
https://doaj.org/article/58d33fd325714bb888c58f92bad9772c