Vamsi K. Mootha

TL;DR: The data support the notion that ACad9 functions as a complex I assembly protein, and ACAD9 is a flavin adenine dinucleotide-containing flavoprotein, and treatment with riboflavin is advisable.

TL;DR: In this article, the present invention provides methods of treating of disorders characterized by defective mitochondrial activity, which can be used in the treatment metabolic diseases and neurodegenerative diseases and is also useful to increase oxidative phosphorylation or to decrease reactive oxygen species (ROS) production in a subject in need thereof.

TL;DR: The structure of MICU2 is solved and it is proposed that in the MICU1–MICU2 oligomeric complex the C-terminal helices of both proteins form a central semiautonomous assembly which contributes to the gating mechanism of the uniporter.

TL;DR: In this article, the authors identify stem cells that directly sense hypoxia and respond by differentiating into solitary NE cells that secrete a protective peptide that mitigates hypoxic injury.

TL;DR: Clinical application of next-generation sequencing technology can enhance the diagnosis of patients suspected to have rare genetic disorders and the finding of unexplained thiamine deficiency in a patient with Wolfram syndrome suggests a potential link between WFS1 biology andThiamine metabolism that has implications for the clinical management ofWolfram syndrome patients.