Homozygous YME1L1 mutation causes mitochondriopathy with optic atrophy and mitochondrial network fragmentation

Mitochondriopathies often present clinically as multisystemic disorders of primarily high-energy consuming organs. Assembly, turnover, and surveillance of mitochondrial proteins are essential for mitochondrial function and a key task of AAA family members of metalloproteases. We identified a homozyg...

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Bibliografische gegevens
Gepubliceerd in:eLife
Hoofdauteurs: Hartmann, Bianca, Wai, Timothy, Hu, Hao, MacVicar, Thomas, Musante, Luciana, Fischer-Zirnsak, Björn, Stenzel, Werner, Gräf, Ralph, van den Heuvel, Lambert, Ropers, Hans-Hilger, Wienker, Thomas F, Hübner, Christoph, Langer, Thomas, Kaindl, Angela M
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: eLife Sciences Publications, Ltd 2016
Onderwerpen:
Human Biology and Medicine
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4991934/
https://ncbi.nlm.nih.gov/pubmed/27495975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.7554/eLife.16078
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