Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.

Rikke K J Olsen, Eliška Koňaříková, Teresa A Giancaspero, Signe Mosegaard, Veronika Boczonadi, Lavinija Mataković, Alice Veauville-Merllié, Caterina Terrile, Thomas Schwarzmayr, Tobias B Haack, Mari Auranen, Piero Leone, Michele Galluccio, Apolline Imbard, Purificacion Gutierrez-Rios, Johan Palmfeldt, Elisabeth Graf, Christine Vianey-Saban, Marcus Oppenheim, Manuel SchiffSamia Pichard, Odile Rigal, Angela Pyle, Patrick F Chinnery, Vassiliki Konstantopoulou, Dorothea Möslinger, René Feichtinger (Co-author), Beril Talim, Haluk Topaloglu, Turgay Coskun, Safak Gucer, Annalisa Botta, Elena Pegoraro, Adriana Malena, Lodovica Vergani, Daniela Mazzà, Marcella Zollino, Daniele Ghezzi, Cecile Acquaviva, Tiina Tyni, Avihu Boneh, Thomas Meitinger, Tim M Strom, Niels Gregersen, Johannes A. Mayr (Last author), Rita Horvath, Maria Barile, Holger Prokisch

Research output: Contribution to journalOriginal Articlepeer-review

93 Citations (Web of Science)
Original languageEnglish
Pages (from-to)1130-1145
JournalAMERICAN JOURNAL OF HUMAN GENETICS
Volume98
Issue number6
DOIs
Publication statusPublished - 2016

Keywords

  • ELECTRON-TRANSFER FLAVOPROTEIN
  • VIALETTO-VAN LAERE
  • OVER-EXPRESSION
  • FUNCTIONAL-CHARACTERIZATION
  • ESCHERICHIA-COLI
  • ISOFORM 2
  • MITOCHONDRIA
  • DISEASE
  • SYNTHETASE
  • COFACTORS

Cite this