Teagan A Bisbing, Christopher A Olm, Corey T McMillan, Katya Rascovsky, Laura Baehr, Kylie Ternes, David J Irwin, Robin Clark, Murray Grossman
Estimating frontal and parietal involvement in cognitive estimation: a study of focal neurodegenerative diseases
Frontiers in human neuroscience
isolated complex ci deficiencies major cause primary mitochondrial disease substantial proportion ci deficiencies believed arise defects ci assembly factors ciafs part ci holoenzyme biochemistry ciafs poorly defined making role ci assembly unclear confounding interpretation potential diseasecausing genetic variants address challenges devised deep mutational scanning approach systematically assess function thousands ndufaf6 genetic variants guided data biochemical analyses crosslinking mass spectrometry discovered ciaf ndufaf6 facilitates incorporation ndufs8 ci reveal ndufs8 overexpression rectifies ndufaf6 deficiency data provide experimental support pathogenicity seven novel ndufaf6 variants associated human pathology introduce functional evidence 5000 additional variants overall work defines molecular function ndufaf6 provides clinical resource aiding diagnosis ndufaf6related diseases