Výsledky vyhledávání - "RC = respiratory chain"

CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability

Autor: Emmanuelle C Genin, Sylvie Bannwarth, Baptiste Ropert, Françoise Lespinasse, Alessandra Mauri-Crouzet, Gaelle Augé, Konstantina Fragaki, Charlotte Cochaud, Erminia Donnarumma, Sandra Lacas-Gervais, Timothy Wai, Véronique Paquis-Flucklinger

Publikováno v: Brain-A Journal of Neurology
Brain-A Journal of Neurology, 2022, 145 (10), pp.3415-3430. ⟨10.1093/brain/awac197⟩

CHCHD10 is an amyotrophic lateral sclerosis/frontotemporal dementia gene that encodes a mitochondrial protein whose precise function is unclear. Here we show that Coiled-Coil-Helix-Coiled-Coil-Helix Domain Containing protein 10 interacts with the Sto

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43e4acee00dfd65b95c24c9f606e3ce2
https://pubmed.ncbi.nlm.nih.gov/35656794

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A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs

Autor: Konstantina Fragaki, Annabelle Chaussenot, Valerie Serre, Cecile Acquaviva, Sylvie Bannwarth, Cecile Rouzier, Brigitte Chabrol, Veronique Paquis-Flucklinger

Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)

Among mitochondrial diseases, isolated complex V (CV) deficiency represents a rare cause of respiratory chain (RC) dysfunction. In mammalian mitochondrial DNA (mtDNA), MT-ATP6 partly overlaps with MT-ATP8 making double mutations possible, yet extreme

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b26aed6a12b38f4c9afb4870078ada57
http://europepmc.org/articles/PMC6879992

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Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations

Autor: Kirstine Ravn, Bitten Schönewolf-Greulich, Morten Duno, Elsebet Ostergaard, Flemming Wibrand, Rikke M. Hansen, Anna-Helene Bohr

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 3, Iss C, Pp 5-10 (2015)
Molecular Genetics and Metabolism Reports

Disorders caused by defects in the mitochondrial translation system are clinically and genetically heterogeneous. The elongation phase of mitochondrial protein synthesis requires, among many other components, three nuclear-encoded elongation factors:

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7fb1a4d67432edf7587391e290d8e402
https://doi.org/10.1016/j.ymgmr.2015.01.004

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A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies

Autor: Hans C. Andersson, Victor Wei Zhang, Lee-Jun C. Wong, Megan Landsverk

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 451-454 (2014)
Molecular Genetics and Metabolism Reports

Defects in two subunits of succinate-CoA ligase encoded by the genes SUCLG1 and SUCLA2 have been identified in mitochondrial DNA (mtDNA) depletion syndromes. Patients generally present with encephalomyopathy and mild methylmalonic acidemia (MMA), how

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0bf721c3b93c031a48916f1d95a8a5c
http://www.sciencedirect.com/science/article/pii/S2214426914000652

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Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction

Autor: Jing Xian Fang, Haruyoshi Yamaza, Kazuaki Nonaka, Rie Amamoto, Takeshi Uchiumi, Mikako Yagi, Shinya Matsumoto, Dongchon Kang, Shinya Takazaki

Publikováno v: Bioscience Reports
Bioscience Reports, Vol 33, Iss 2, p e00021 (2013)

Some mutations of the DHODH (dihydro-orotate dehydrogenase) gene lead to postaxial acrofacial dysostosis or Miller syndrome. Only DHODH is localized at mitochondria among enzymes of the de novo pyrimidine biosynthesis pathway. Since the pyrimidine bi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99052f7c972fc21759933f733a55203a
https://doi.org/10.1042/bsr20120097

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Tissue- and species-specific differences in cytochrome c oxidase assembly induced by SURF1 defects

Autor: Hana Nůsková, Josef Houštěk, Nikola Kovářová, Marek Vrbacký, Tomáš Mráček, Massimo Zeviani, Carlo Viscomi, Petr Pecina

Publikováno v: Biochimica et Biophysica Acta

Mitochondrial protein SURF1 is a specific assembly factor of cytochrome c oxidase (COX), but its function is poorly understood. SURF1 gene mutations cause a severe COX deficiency manifesting as the Leigh syndrome in humans, whereas in mice SURF1−/�

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c8a334ee2531a61ac4830effd65560a

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Akademický článek

A novel variant m.8561C>T in the overlapping region of MT-ATP6 and MT-ATP8 in a child with early-onset severe neurological signs.

Autor: Fragaki K; Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France., Chaussenot A; Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France., Serre V; UMR7592 CNRS, Institut Jacques Monod, Université Paris Diderot, Nice, France., Acquaviva C; Department of Inborn Errors of Metabolism and Neonatal Screening, Center of Biology and Pathology Est CHU, Lyon Bron, France., Bannwarth S; Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France., Rouzier C; Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France., Chabrol B; Department of Neuropediatrics, Timone Hospital, CHU, Marseille, France., Paquis-Flucklinger V; Université Côte d'Azur, CHU, Inserm, CNRS, IRCAN, France.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2019 Nov 21; Vol. 21, pp. 100543. Date of Electronic Publication: 2019 Nov 21 (Print Publication: 2019).

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Akademický článek

Neonatal mitochondrial hepatoencephalopathy caused by novel GFM1 mutations.

Autor: Ravn K; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen, Denmark., Schönewolf-Greulich B; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark., Hansen RM; Pediatrics Department, Herning Hospital, Herning, Denmark., Bohr AH; Pediatrics Department, Nykoebing Falster Hospital, Nykoebing Falster, Denmark., Duno M; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen, Denmark., Wibrand F; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen, Denmark., Ostergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, Blegdamsvej 9, Copenhagen, Denmark.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2015 Feb 20; Vol. 3, pp. 5-10. Date of Electronic Publication: 2015 Feb 20 (Print Publication: 2015).

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Report

A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies.

Autor: Landsverk ML; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Sanford Health, Sioux Falls, SD, USA., Zhang VW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Wong LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Andersson HC; Hayward Genetics Center, Tulane University, New Orleans, LA, USA; Department of Pediatrics, Tulane University, New Orleans, LA, USA.

Publikováno v: Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2014 Oct 14; Vol. 1, pp. 451-454. Date of Electronic Publication: 2014 Oct 14 (Print Publication: 2014).

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