Human Molecular Genetics

Authors Vučković A, Freyer C, Wredenberg A, Hillen HS Journal Human Molecular Genetics Citation Hum Mol Genet. 2024 May 22;33(R1):R19-R25. Abstract Human mitochondria harbour a circular, polyploid genome (mtDNA) encoding 11 messenger RNAs (mRNAs), two ribosomal RNAs (rRNAs) and 22 transfer RNAs (tRNAs). Mitochondrial transcription produces long, polycistronic transcripts that

Authors Kremer LS, Rehling P Journal Human Molecular Genetics Citation Hum Mol Genet. 2024 May 22;33(R1):R47-R52. Abstract The mitochondrial oxidative phosphorylation (OXPHOS) system produces the majority of energy required by cells. Given the mitochondrion’s endosymbiotic origin, the OXPHOS machinery is still under dual genetic control where most OXPHOS subunits are

Authors Schaffner SL, Wassouf Z, Lazaro DF, Xylaki M, Gladish N, Lin DTS, MacIsaac J, Ramadori K, Hentrich T, Schulze-Hentrich JM, Outeiro TF, Kobor MS Journal Human Molecular Genetics Citation Hum Mol Genet. 2022 May 14:ddac104. Abstract Parkinson’s disease (PD) is a neurological disorder with complex interindividual etiology that is

Authors Gönenc II, Wolff A, Schmidt J, Zibat A, Müller C, Cyganek L, Argyriou L, Räschle M, Yigit G, Wollnik B Journal Human Molecular Genetics Citation Hum Mol Genet. 2022 Jan 31:ddab373. Abstract Bloom syndrome (BS) is an autosomal recessive disease clinically characterized by primary microcephaly, growth deficiency, immunodeficiency, and