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1 . Academic Journal
Clinical Presentation, Genetic Etiology, and Coenzyme Q10 Levels in 55 Children with Combined Enzyme Deficiencies of the Mitochondrial Respiratory Chain
저자
by
Naess, Karin
;
Bruhn, Helene
;
Stranneheim, Henrik
;
Freyer, Christoph
;
Wibom, Rolf
, et al.
소스
In
The Journal of Pediatrics
January 2021 228:240-251
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7 . Academic Journal
PARKIN is not required to sustain OXPHOS function in adult mammalian tissues.
저자
by
Filograna, Roberta
;
Gerlach, Jule
;
Choi, Hae-Na
;
Rigoni, Giovanni
;
Barbaro, Michela
, et al.
소스
NPJ Parkinson's Disease; 4/29/2024, Vol. 10 Issue 1, p1-14, 14p
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7 . Academic Journal
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency.
저자
by
Bruhn, Helene
;
Naess, Karin
;
Ygberg, Sofia
;
Peña-Pérez, Lucía
;
Lesko, Nicole
, et al.
소스
Human Mutation; 3/25/2024, Vol. 2024, p1-16, 16p
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7 . Academic Journal
Inhibition of mammalian mtDNA transcription acts paradoxically to reverse diet-induced hepatosteatosis and obesity
저자
by
Jiang, Shan
;
Yuan, Taolin
;
Rosenberger, Florian A.
;
Mourier, Arnaud
;
Dragano, Nathalia R. V.
, et al.
소스
Nature Metabolism
. 6(6):1024-1035
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7 . Academic Journal
Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3.
저자
by
Ben-Shabat, Ilan
;
Kvarnung, Malin
;
Sperker, Wolfgang
;
Bruhn, Helene
;
Wredenberg, Anna
, et al.
소스
Neurology: Genetics; Dec2023, Vol. 9 Issue 6, p1-5, 5p
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7 . Academic Journal
Tissue-Specific Loss of DARS2 Activates Stress Responses Independently of Respiratory Chain Deficiency in the Heart
저자
by
Dogan, Sukru Anil
;
Pujol, Claire
;
Maiti, Priyanka
;
Kukat, Alexandra
;
Wang, Shuaiyu
, et al.
소스
In
Cell Metabolism
4 March 2014 19(3):458-469
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7 . Academic Journal
MTERF4 Regulates Translation by Targeting the Methyltransferase NSUN4 to the Mammalian Mitochondrial Ribosome
저자
by
Cámara, Yolanda
;
Asin-Cayuela, Jorge
;
Park, Chan Bae
;
Metodiev, Metodi D.
;
Shi, Yonghong
, et al.
소스
In
Cell Metabolism
2011 13(5):527-539
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7 . Academic Journal
Two novel mutations in thymidine kinase-2 cause early onset fatal encephalomyopathy and severe mtDNA depletion
저자
by
Lesko, Nicole
;
Naess, Karin
;
Wibom, Rolf
;
Solaroli, Nicola
;
Nennesmo, Inger
, et al.
소스
In
Neuromuscular Disorders
2010 20(3):198-203
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7 . Academic Journal
Methylation of 12S rRNA Is Necessary for In Vivo Stability of the Small Subunit of the Mammalian Mitochondrial Ribosome
저자
by
Metodiev, Metodi D.
;
Lesko, Nicole
;
Park, Chan Bae
;
Cámara, Yolanda
;
Shi, Yonghong
, et al.
소스
In
Cell Metabolism
2009 9(4):386-397
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7 . Academic Journal
Human mitochondria require mtRF1 for translation termination at non-canonical stop codons.
저자
by
Krüger, Annika
;
Remes, Cristina
;
Shiriaev, Dmitrii Igorevich
;
Liu, Yong
;
Spåhr, Henrik
, et al.
소스
Nature Communications; 1/3/2023, Vol. 14 Issue 1, p1-16, 16p
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