Genetics of mitochondrial dysfunction and infertility

Sperm mitochondrial DNA deletion in Iranian infertiles with asthenozoospermia

(2016) I. Bahrehmand Namaghi et al.   ANDROLOGIA

Expanding the genotypic spectrum of Perrault syndrome

(2016) L.A.M. Demain et al.   CLINICAL GENETICS

A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism

(2016) Laura Kytövuori et al.   JOURNAL OF NEUROLOGY

MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options

(2015) Ayman W. El-Hattab et al.   MOLECULAR GENETICS AND METABOLISM

Increased Incidence of Mitochondrial Cytochrome C Oxidase 1 Gene Mutations in Patients with Primary Ovarian Insufficiency

(2015) Xiumei Zhen et al.   PLoS One

A novel finding in MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy): hypergonadotropic hypogonadism

(2014) İsmail Hakki Kalkan et al.   Hormones-International Journal of Endocrinology and Metabolism

Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features

(2014) H. Morino et al.   NEUROLOGY

Novel (ovario) leukodystrophy related to AARS2 mutations

(2014) C. Dallabona et al.   NEUROLOGY

Adenine Nucleotide Translocase 4 Is Expressed Within Embryonic Ovaries and Dispensable During Oogenesis

(2014) Chae Ho Lim et al.   Reproductive Sciences

Perrault Syndrome Is Caused by Recessive Mutations in CLPP, Encoding a Mitochondrial ATP-Dependent Chambered Protease

(2013) Emma M. Jenkinson et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome

(2013) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A genome-wide association study of early menopause and the combined impact of identified variants

(2013) John R. B. Perry et al.   HUMAN MOLECULAR GENETICS

Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors

(2013) S. Gispert et al.   HUMAN MOLECULAR GENETICS

The m.3243A>G mitochondrial DNA mutation and related phenotypes. A matter of gender?

(2013) Michelangelo Mancuso et al.   JOURNAL OF NEUROLOGY

Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA

(2013) Mika H. Martikainen et al.   MITOCHONDRION

Endocrine disorders in mitochondrial disease

(2013) Andrew M. Schaefer et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Mitochondria and mammalian reproduction

(2013) João Ramalho-Santos et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Mitochondrial DNA mutations and polymorphisms in asthenospermic infertile men

(2013) Siwar Baklouti-Gargouri et al.   MOLECULAR BIOLOGY REPORTS

Mitochondria functionality and sperm quality

(2013) Alexandra Amaral et al.   REPRODUCTION

Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics

(2012) Robert D. S. Pitceathly et al.   BRAIN

Oxidative stress is involved in age-dependent spermatogenic damage of Immp2l mutant mice

(2012) Sunil K. George et al.   FREE RADICAL BIOLOGY AND MEDICINE

POLG mutation in a patient with cataracts, early-onset distal muscle weakness and atrophy, ovarian dysgenesis and 3-methylglutaconic aciduria

(2012) Mir Reza Bekheirnia et al.   GENE

POLG mutations and age at menopause

(2012) A. J. Duncan et al.   HUMAN REPRODUCTION

Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways

(2012) Lisette Stolk et al.   NATURE GENETICS

Blood Cell Mitochondrial DNA Content and Premature Ovarian Aging

(2012) Marco Bonomi et al.   PLoS One

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

(2011) Caterina Garone et al.   BRAIN

Perrault syndrome: further evidence for genetic heterogeneity

(2011) Emma M. Jenkinson et al.   JOURNAL OF NEUROLOGY

Not All Sperm Are Equal: Functional Mitochondria Characterize a Subpopulation of Human Sperm with Better Fertilization Potential

(2011) Ana Paula Sousa et al.   PLoS One

Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome

(2011) S. B. Pierce et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia

(2011) Atsushi Takata et al.   GENOME BIOLOGY

Mutations in the DBP-Deficiency Protein HSD17B4 Cause Ovarian Dysgenesis, Hearing Loss, and Ataxia of Perrault Syndrome

(2010) Sarah B. Pierce et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nucleotide variations in mitochondrial DNA and supra-physiological ROS levels in cytogenetically normal cases of premature ovarian insufficiency

(2010) Manoj Kumar et al.   ARCHIVES OF GYNECOLOGY AND OBSTETRICS

Oxidative stress and ATPase6 mutation is associated with primary ovarian insufficiency

(2010) S. Venkatesh et al.   ARCHIVES OF GYNECOLOGY AND OBSTETRICS

Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency

(2010) Zhi-Bin Tong et al.   FERTILITY AND STERILITY

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

(2010) Jonathan Van Blerkom   MITOCHONDRION

The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO

(2010) C. Fratter et al.   NEUROLOGY

Recessive twinkle mutations cause severe epileptic encephalopathy

(2009) T. Lonnqvist et al.   BRAIN

Adenine nucleotide translocase 4 deficiency leads to early meiotic arrest of murine male germ cells

(2009) Jeffrey V Brower et al.   REPRODUCTION

Prevalence of mitochondrial DNA disease in adults

(2007) Andrew M. Schaefer et al.   ANNALS OF NEUROLOGY

A Mutation in the Inner Mitochondrial Membrane Peptidase 2-Like Gene (Immp2l) Affects Mitochondrial Function and Impairs Fertility in Mice1

(2007) Baisong Lu et al.   BIOLOGY OF REPRODUCTION