Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy

Neumann, Marie Anne-Catherine; Grossmann, Dajana; Schimpf-Linzenbold, Simone; Dayan, Dana; Stingl, Katarina; Ben-Menachem, Reut; Pines, Ophry; Massart, Francois; Delcambre, Sylvie; Ghelfi, Jenny; Bohler, Jill; Strom, Tim; Kessel, Amit; Azem, Abdussalam; Schoels, Ludger; Gruenewald, Anne; Wissinger, Bernd; Krueger, Rejko

Haploinsufficiency due to a novel ACO2 deletion causes mitochondrial dysfunction in fibroblasts from a patient with dominant optic nerve atrophy

Author:

Neumann, Marie Anne-Catherine; Grossmann, Dajana; Schimpf-Linzenbold, Simone; Dayan, Dana; Stingl, Katarina; Ben-Menachem, Reut; Pines, Ophry; Massart, Francois; Delcambre, Sylvie; Ghelfi, Jenny; Bohler, Jill; Strom, Tim; Kessel, Amit; Azem, Abdussalam; Schoels, Ludger; Gruenewald, Anne; Wissinger, Bernd; Krueger, Rejko

Tübinger Autor(en):

Schimpf-Linzenbold, Simone
Wissinger, Bernd
Štingl, Katarína
Schöls, Ludger

Published in:

Scientific Reports (2020), Bd. 10, Article 16736

Verlagsangabe:

Nature Research

Language:

English

Full text:

http://dx.doi.org/10.1038/s41598-020-73557-4

ISSN:

2045-2322