Genetics of ovarian insufficiency and defects of folliculogenesis

MM França, BB Mendonca - … practice & research Clinical endocrinology & …, 2022 - Elsevier
Primary ovarian insufficiency (POI) is determined by exhaustion of follicles in the ovaries,
which leads to infertility before the age of 40 years. It is characterized by a strong familial …

Abnormal expression of mitochondrial ribosomal proteins and their encoding genes with cell apoptosis and diseases

G Huang, H Li, H Zhang - International journal of molecular sciences, 2020 - mdpi.com
Mammalian mitochondrial ribosomes translate 13 proteins encoded by mitochondrial genes,
all of which play roles in the mitochondrial respiratory chain. After a long period of …

The diseased mitoribosome

A Ferrari, S Del'Olio, A Barrientos - FEBS letters, 2021 - Wiley Online Library
Mitochondria control life and death in eukaryotic cells. Harboring a unique circular genome,
a by‐product of an ancient endosymbiotic event, mitochondria maintains a specialized and …

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

SSC Amarasekera, DH Hock, NJ Lake… - Human molecular …, 2023 - academic.oup.com
MRPL39 encodes one of 52 proteins comprising the large subunit of the mitochondrial
ribosome (mitoribosome). In conjunction with 30 proteins in the small subunit, the …

Mitochondrial dysfunction in obesity and reproduction

M Das, C Sauceda, NJG Webster - Endocrinology, 2021 - academic.oup.com
Mounting evidence suggests a role for mitochondrial dysfunction in the pathogenesis of
many diseases, including type 2 diabetes, aging, and ovarian failure. Because of the central …

Human mitoribosome biogenesis and its emerging links to disease

MIG Lopez Sanchez, A Krüger, DI Shiriaev… - International journal of …, 2021 - mdpi.com
Mammalian mitochondrial ribosomes (mitoribosomes) synthesize a small subset of proteins,
which are essential components of the oxidative phosphorylation machinery. Therefore, their …

Premature ovarian insufficiency

P Touraine, N Chabbert-Buffet, G Plu-Bureau… - Nature Reviews …, 2024 - nature.com
Premature ovarian insufficiency (POI) is a cause of infertility and endocrine dysfunction in
women, defined by loss of normal, predictable ovarian activity before the age of 40 years …

Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease

A Jolly, Y Bayram, S Turan, Z Aycan… - The Journal of …, 2019 - academic.oup.com
Context Primary ovarian insufficiency (POI) encompasses a spectrum of premature
menopause, including both primary and secondary amenorrhea. For 75% to 90% of …

Genetics of primary ovarian insufficiency in the next-generation sequencing era

MM França, BB Mendonca - Journal of the Endocrine Society, 2020 - academic.oup.com
Primary ovarian insufficiency (POI) is characterized by amenorrhea, increased follicle-
stimulating hormone (FSH) levels, and hypoestrogenism, leading to infertility before the age …

Mitochondrial dysfunction in primary ovarian insufficiency

D Tiosano, JA Mears, DA Buchner - Endocrinology, 2019 - academic.oup.com
Primary ovarian insufficiency (POI) is defined by the loss or dysfunction of ovarian follicles
associated with amenorrhea before the age of 40. Symptoms include hot flashes, sleep …