Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F67985823%3A_____%2F24%3A00598040" target="_blank" >RIV/67985823:_____/24:00598040 - isvavai.cz</a>
Result on the web
<a href="https://www.biomed.cas.cz/physiolres/pdf/2024/73_S243.pdf" target="_blank" >https://www.biomed.cas.cz/physiolres/pdf/2024/73_S243.pdf</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.33549/physiolres.935407" target="_blank" >10.33549/physiolres.935407</a>
Alternative languages
Result language
angličtina
Original language name
Variability of Clinical Phenotypes Caused by Isolated Defects of Mitochondrial ATP Synthase.
Original language description
Disorders of ATP synthase, the key enzyme in mitochondrial energy supply, belong to the most severe metabolic diseases, manifesting as early-onset mitochondrial encephalocardiomyopathies. Since ATP synthase subunits are encoded by both mitochondrial and nuclear DNA, pathogenic variants can be found in either genome. In addition, the biogenesis of ATP synthase requires several assembly factors, some of which are also hotspots for pathogenic variants. While variants of MT-ATP6 and TMEM70 represent the most common cases of mitochondrial and nuclear DNA mutations respectively, the advent of nextgeneration sequencing has revealed new pathogenic variants in a number of structural genes and TMEM70, sometimes with truly peculiar genetics. Here we present a systematic review of the reported cases and discuss biochemical mechanisms, through which they are affecting ATP synthase. We explore how the knowledge of pathophysiology can improve our understanding of enzyme biogenesis and function.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
10608 - Biochemistry and molecular biology
Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)
Others
Publication year
2024
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Physiological Research
ISSN
0862-8408
e-ISSN
1802-9973
Volume of the periodical
73
Issue of the periodical within the volume
Suppl.1
Country of publishing house
CZ - CZECH REPUBLIC
Number of pages
36
Pages from-to
"S243"-"S278"
UT code for WoS article
001295308400014
EID of the result in the Scopus database
2-s2.0-85202905924