Mitochondrial DNA mutations in human disease

RW Taylor, DM Turnbull - Nature Reviews Genetics, 2005 - nature.com
The human mitochondrial genome is extremely small compared with the nuclear genome,
and mitochondrial genetics presents unique clinical and experimental challenges. Despite …

Ovarian ageing: the role of mitochondria in oocytes and follicles

P May-Panloup, L Boucret… - Human reproduction …, 2016 - academic.oup.com
BACKGROUND There is a great inter-individual variability of ovarian ageing, and almost
20% of patients consulting for infertility show signs of premature ovarian ageing. This …

The biology of infertility: research advances and clinical challenges

MM Matzuk, DJ Lamb - Nature medicine, 2008 - nature.com
Reproduction is required for the survival of all mammalian species, and thousands of
essential'sex'genes are conserved through evolution. Basic research helps to define these …

Oocyte maturation: gamete-somatic cells interactions, meiotic resumption, cytoskeletal dynamics and cytoplasmic reorganization

G Coticchio, M Dal Canto… - Human reproduction …, 2015 - academic.oup.com
BACKGROUND In a growth phase occurring during most of folliculogenesis, the oocyte
produces and accumulates molecules and organelles that are fundamental for the …

Mitochondrial function in the human oocyte and embryo and their role in developmental competence

J Van Blerkom - Mitochondrion, 2011 - Elsevier
The role of mitochondria as a nexus of developmental regulation in mammalian oogenesis
and early embryogenesis is emerging from basic research in model species and from …

Mitochondria in ovarian aging and reproductive longevity

JL Chiang, P Shukla, K Pagidas, NS Ahmed… - Ageing research …, 2020 - Elsevier
Mitochondrial dysfunction is one of the hallmarks of aging. Consistently mitochondrial DNA
(mtDNA) copy number and function decline with age in various tissues. There is increasing …

Mitochondrial gene replacement in primate offspring and embryonic stem cells

M Tachibana, M Sparman, H Sritanaudomchai, H Ma… - Nature, 2009 - nature.com
Mitochondria are found in all eukaryotic cells and contain their own genome (mitochondrial
DNA or mtDNA). Unlike the nuclear genome, which is derived from both the egg and sperm …

Mitochondrial aggregation patterns and activity in human oocytes and preimplantation embryos

M Wilding, B Dale, M Marino, L di Matteo… - Human …, 2001 - academic.oup.com
Mitochondria play a vital role in the metabolism of energy-containing compounds in the
oocyte cytoplasm to provide adenosine trisphosphate for fertilization and preimplantation …

Age-associated alteration of gene expression patterns in mouse oocytes

T Hamatani, G Falco, MG Carter… - Human molecular …, 2004 - academic.oup.com
Decreasing oocyte competence with maternal aging is a major factor in human infertility. To
investigate the age-dependent molecular changes in a mouse model, we compared the …

Investigating human disease using stem cell models

JL Sterneckert, P Reinhardt, HR Schöler - Nature Reviews Genetics, 2014 - nature.com
Tractable and accurate disease models are essential for understanding disease
pathogenesis and for develo** new therapeutics. As stem cells are capable of self …