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

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...

Full description

Bibliographic Details
Main Authors: Bianca Hartmann, Timothy Wai, Hao Hu, Thomas MacVicar, Luciana Musante, Björn Fischer-Zirnsak, Werner Stenzel, Ralph Gräf, Lambert van den Heuvel, Hans-Hilger Ropers, Thomas F Wienker, Christoph Hübner, Thomas Langer, Angela M Kaindl
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2016-08-01
Series:eLife
Subjects:
YME1L1
mitochondriopathy
intellectual disability
optic atrophy
OPA1
mitochondrial fragmentation
Online Access:https://elifesciences.org/articles/16078

Internet

https://elifesciences.org/articles/16078

Similar Items