A systematic review of the impact of mitochondrial variations on male infertility

H Amor, ME Hammadeh - Genes, 2022 - mdpi.com
According to current estimates, infertility affects one in four couples trying to conceive.
Primary or secondary infertility can be due either to both partners or only to the man or the …

Pseudomitochondrial genome haunts disease studies

YG Yao, QP Kong, A Salas, HJ Bandelt - Journal of medical genetics, 2008 - jmg.bmj.com
The accidental amplification of nuclear mitochondrial pseudogenes (NUMTs) can pose a
serious problem for mitochondrial disease studies. This report shows that the mutation …

OXPHOS remodeling in high-grade prostate cancer involves mtDNA mutations and increased succinate oxidation

B Schöpf, H Weissensteiner, G Schäfer… - Nature …, 2020 - nature.com
Rewiring of energy metabolism and adaptation of mitochondria are considered to impact on
prostate cancer development and progression. Here, we report on mitochondrial respiration …

Simultaneous detection and quantification of mitochondrial DNA deletion (s), depletion, and over-replication in patients with mitochondrial disease

RK Bai, LJC Wong - The Journal of Molecular Diagnostics, 2005 - Elsevier
Heterogeneous clinical expression of mitochondrial DNA (mtDNA) disorders depends on
both qualitative and quantitative changes in mtDNA. We developed a sensitive and effective …

Diagnostic challenges of mitochondrial DNA disorders

LJC Wong - Mitochondrion, 2007 - Elsevier
Although mitochondrial disorders are increasingly being recognized, confirming a specific
diagnosis remains a great challenge due to the genetic and clinical heterogeneity of the …

Mitochondrial DNA analysis in clinical laboratory diagnostics

LJC Wong, RG Boles - Clinica chimica acta, 2005 - Elsevier
Mitochondrial disorders are increasingly being diagnosed, especially among patients with
multiple, seemingly unrelated, neuromuscular and multi-sytem disorders. The genetics are …

The Sua5 protein is essential for normal translational regulation in yeast

CA Lin, SR Ellis, HL True - Molecular and cellular biology, 2010 - Am Soc Microbiol
The anticodon stem-loop of tRNAs requires extensive posttranscriptional modifications in
order to maintain structure and stabilize the codon-anticodon interaction. These …

Transfer RNA detection by small RNA deep sequencing and disease association with myelodysplastic syndromes

Y Guo, A Bosompem, S Mohan, B Erdogan, F Ye… - BMC genomics, 2015 - Springer
Background Although advances in sequencing technologies have popularized the use of
microRNA (miRNA) sequencing (miRNA-seq) for the quantification of miRNA expression …

Human mitochondrial transfer RNAs: role of pathogenic mutation in disease

F Scaglia, LJC Wong - Muscle & Nerve: Official Journal of the …, 2008 - Wiley Online Library
The human mitochondrial genome encodes 13 proteins. All are subunits of the respiratory
chain complexes involved in energy metabolism. These proteins are translated by a set of …

Placing mitochondrial DNA mutations within the progression model of type I endometrial carcinoma

F Guerra, I Kurelac, A Cormio, R Zuntini… - Human Molecular …, 2011 - academic.oup.com
Mitochondrial DNA (mtDNA) mutations have been described in almost all types of cancer.
However, their exact role and timing of occurrence during tumor development and …