Blar i Department of Clinical Medicine på emneord "mitochondria"
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ADCK3 mutations with epilepsy, stroke-like episodes and ataxia: a POLG mimic?
(Peer reviewed; Journal article, 2016-07)Background and purpose: Defects of coenzyme Q10 (CoQ10) metabolism cause a variety of disorders ranging from isolated myopathy to multisystem involvement. ADCK3 is one of several genes associated with CoQ10 deficiency that ... -
Genetic and hypoxic alterations of the microRNA-210-ISCU1/2 axis promote iron-sulfur deficiency and pulmonary hypertension
(Peer reviewed; Journal article, 2015)Iron–sulfur (Fe‐S) clusters are essential for mitochondrial metabolism, but their regulation in pulmonary hypertension (PH) remains enigmatic. We demonstrate that alterations of the miR‐210‐ISCU1/2 axis cause Fe‐S deficiencies ...