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Mitochondrial complex I deficiency masquerading as stroke-like episode clinically and as alexander disease radiologically following chicken pox

Autor: Vykuntaraju K Gowda, Arun Y Bylappa, Uddhav Kinhal, Varunvenkat M Srinivasan, Dhananjaya K Vamyanmane

Publikováno v: Annals of Indian Academy of Neurology, Vol 26, Iss 6, Pp 977-979 (2023)

Mitochondrial disorders are a group of metabolic disorders with variable presentation and usually affect organs with high energy requirements like the brain, eye, and heart. Seventeen-month-old girl child presented with right hemiparesis and regressi

Externí odkaz: https://doaj.org/article/9d9761a071d842908ad9eead5e250f68

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Expansion of the clinical and neuroimaging spectrum associated with NDUFS8‐related disorder

Autor: Milena M. Andzelm, Shanti Balasubramaniam, Edward Yang, Alison G. Compton, Kate Millington, Jia Zhu, Irina Anselm, Lance H. Rodan, David R. Thorburn, John Christodoulou, Siddharth Srivastava

Publikováno v: JIMD Reports, Vol 63, Iss 5, Pp 391-399 (2022)

Abstract Biallelic pathogenic variants in NDUFS8, a nuclear gene encoding a subunit of mitochondrial complex I, result in a mitochondrial disorder characterized by varying clinical presentations and severity. Here, we expand the neuroimaging and clin

Externí odkaz: https://doaj.org/article/5e92826c8aaa46bd8ced6c614e9e01de

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Akademický článek

Emerging Roles of NDUFS8 Located in Mitochondrial Complex I in Different Diseases

Autor: Sifan Wang, Yuanbo Kang, Ruifeng Wang, Junqi Deng, Yupei Yu, Jun Yu, Junpu Wang

Publikováno v: Molecules, Vol 27, Iss 24, p 8754 (2022)

NADH:ubiquinone oxidoreductase core subunit S8 (NDUFS8) is an essential core subunit and component of the iron-sulfur (FeS) fragment of mitochondrial complex I directly involved in the electron transfer process and energy metabolism. Pathogenic varia

Externí odkaz: https://doaj.org/article/92a5034a03214b508fec846ed56e68da

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Role of the Gene ndufs8 Located in Respiratory Complex I from Monascus purpureus in the Cell Growth and Secondary Metabolites Biosynthesis

Autor: Xinru Cai, Song Zhang, Jia Lin, Yaxu Wang, Fanyu Ye, Bo Zhou, Qinlu Lin, Jun Liu

Publikováno v: Journal of Fungi, Vol 8, Iss 7, p 655 (2022)

Our previous work revealed that the anabolism of Monascus secondary metabolites is closely related to cofactor metabolism. In this study, we have further investigated the regulation mechanisms of respiratory complex I in response to the cell growth a

Externí odkaz: https://doaj.org/article/6ffaea08668b496e9875ab232a495718

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TAT-Conjugated NDUFS8 Can Be Transduced into Mitochondria in a Membrane-Potential-Independent Manner and Rescue Complex I Deficiency

Autor: Chao-Chang Lee, Bo-Yu Lin, Pin-Chao Liao, Kai-Wen Teng, Juan-Yu Chang, Gui-Teng Zheng, Mou-Chieh Kao

Publikováno v: International Journal of Molecular Sciences
Volume 22
Issue 12
International Journal of Molecular Sciences, Vol 22, Iss 6524, p 6524 (2021)

NADH dehydrogenase (ubiquinone) Fe-S protein 8 (NDUFS8) is a nuclear-encoded core subunit of human mitochondrial complex I. Defects in NDUFS8 are associated with Leigh syndrome and encephalomyopathy. Cell-penetrating peptide derived from the HIV-1 tr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e13c29425b742bf2d17bb961d8aefc96

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Nuclear-encoded mitochondrial ribosomal proteins are required to initiate gastrulation

Autor: Rinat Degani, Agnes Cheong, Jesse Mager, Danielle Archambault, Kimberly D. Tremblay, Elizabeth Iverson

Publikováno v: Development

Mitochondria are essential for energy production and although they have their own genome, many nuclear-encoded mitochondrial ribosomal proteins (MRPs) are required for proper function of the organelle. Although mutations in MRPs have been associated

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::196eb65e355dba8dfe0d094a27896051
https://europepmc.org/articles/PMC7272334/

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Systematic Expression Analysis of Mitochondrial Complex I Identifies NDUFS1 as a Biomarker in Clear-Cell Renal-Cell Carcinoma

Autor: Arabella Gromes, Stefan C. Müller, Nadja Ellinger, Mirjam Poss, Doris Schmidt, Maria Brüggemann, Dimo Dietrich, Glen Kristiansen, Jörg Ellinger, Yuri Tolkach

Publikováno v: Clinical Genitourinary Cancer. 15:e551-e562

Introduction Mitochondrial dysfunction is common in cancer, and the mitochondrial electron transport chain is often affected in carcinogenesis. So far, little is known about the expression of the mitochondrial complex I (NADH:ubiquinone oxidoreductas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dab991975ca292ab498887f134328719
https://doi.org/10.1016/j.clgc.2016.11.010

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