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

eLife

Volumn 5, Issue AUGUST, 2016, Pages

  Hartmann, Bianca ^a   Wai, Timothy ^b,g   Hu, Hao ^c,d   MacVicar, Thomas ^b   Musante, Luciana ^c   Fischer Zirnsak, Björn ^a,c   Stenzel, Werner ^a   Gräf, Ralph ^e   Van Den Heuvel, Lambert ^f   Ropers, Hans Hilger ^c   Wienker, Thomas F ^c   Hübner, Christoph ^a   Langer, Thomas ^b   Kaindl, Angela M ^a  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^d Guangzhou Women and Children's Medical Center   (China)

^e UNIVERSITY OF POTSDAM   (Germany)

^f RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^g INSTITUT NECKER ENFANTS MALADES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

LACTIC ACID; NEURON SPECIFIC ENOLASE; SUCCINATE DEHYDROGENASE; METALLOPROTEINASE; YME1L1 PROTEIN, HUMAN;

ADOLESCENT; ANIMAL CELL; APOPTOSIS; ARTICLE; BIOINFORMATICS; CASE REPORT; CELL PROLIFERATION; CELL VIABILITY; CHILD; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTRON MICROSCOPY; ELECTROPHORESIS; ENZYME ACTIVITY; GENE; GENE EXPRESSION; GENE SEQUENCE; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; INTELLECTUAL IMPAIRMENT; LEUKOENCEPHALOPATHY; MISSENSE MUTATION; MITOCHONDRIAL DYNAMICS; MOUSE; MUSCLE BIOPSY; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; OPTIC NERVE ATROPHY; PHENOTYPE; PRESCHOOL CHILD; PROTEIN DEGRADATION; REAL TIME POLYMERASE CHAIN REACTION; SITE DIRECTED MUTAGENESIS; WESTERN BLOTTING; YME1L1 GENE; FEMALE; GENETICS; HOMOZYGOTE; MALE; MITOCHONDRION; PATHOLOGY;

FEMALE; HOMOZYGOTE; HUMANS; MALE; METALLOENDOPEPTIDASES; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION, MISSENSE; OPTIC ATROPHY;

EID: 84983638384     PISSN: None     EISSN: 2050084X     Source Type: Journal    
DOI: 10.7554/eLife.16078     Document Type: Article

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