Article
Molecular and clinical spectra of FBXL4 deficiency.
Human mutation - 1 Dec 2017
El-Hattab Ayman W, Dai Hongzheng, Almannai Mohammed, Wang Julia, Faqeih Eissa A, Al Asmari Ali, Saleh Mohammed A M, Elamin Mohammed A O, Alfadhel Majid, Alkuraya Fowzan S, Hashem Mais, Aldosary Mazhor S, Almass Rawan, Almutairi Faten B, Alsagob Maysoon, Al-Owain Mohammed, Al-Sharfa Shirin, Al-Hassnan Zuhair N, Rahbeeni Zuhair, Al-Muhaizea Mohammed A, Makhseed Nawal, Foskett Gretchen K, Stevenson David A, Gomez-Ospina Natalia, Lee Chung, Boles Richard G, Schrier Vergano Samantha A, Wortmann Saskia B, Sperl Wolfgang, Opladen Thomas, Hoffmann Georg F, Hempel Maja, Prokisch Holger, Alhaddad Bader, Mayr Johannes A, Chan Wenyaw, Kaya Namik, Wong Lee-Jun C
Abstract excerpt
F-box and leucine-rich repeat protein 4 (FBXL4) is a mitochondrial protein whose exact function is not yet known. However, cellular studies have suggested that it plays significant roles in mitochondrial bioenergetics, mitochondrial DNA (mtDNA) maintenance, and mitochondrial dynamics. Biallelic pathogenic variants in FBXL4 are associated with an encephalopathic mtDNA maintenance defect syndrome that is a...
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