Anu Suomalainen

TL;DR: This commentary inaugurates a new review series in EMBO Molecular Medicine focused on mitochondrial diseases, offering a comprehensive overview of this exciting area of medicine and research and providing timely discussions for clinicians and investigators on the new discoveries elucidating how mitochondrial metabolism contributes to an expanding group of complex, heterogeneous, and difficult‐to‐tackle diseases.

TL;DR: All available members of the original large MIRAS family with W748S mutation showed no clinically manifesting phenotype, and cerebral glucose metabolism was moderately reduced in two out of four heterozygotes compared with severe reduction in one MIRas patient.

TL;DR: In this article, exome sequencing (ES) detected biallelic putative disease-causing variants in MED27, encoding Mediator Complex Subunit 27, in sixteen patients from eleven families with a novel neurodevelopmental syndrome.

TL;DR: The clinical spectrum associated with Hikeshi deficiency extends to leukoencephalopathy with vermian atrophy and epilepsy, and the cellular disease process involves both nuclear chaperone and ER functions.

TL;DR: Methods allowing sensitive and accurate quantitative analysis of defined RNA species are required m a wide variety of gene expression studtes, and a prereqursite for an accurate quantitative PCR analysis is that an internal standard is coamplified in the same reaction with the target sequence.