Premature ovarian insufficiency: new perspectives on genetic cause and phenotypic spectrum

EJ Tucker, SR Grover, A Bachelot, P Touraine… - Endocrine …, 2016 - academic.oup.com
Premature ovarian insufficiency (POI) is one form of female infertility, defined by loss of
ovarian activity before the age of 40 and characterized by amenorrhea (primary or …

Genetics of primary ovarian insufficiency

R Rossetti, I Ferrari, M Bonomi, L Persani - Clinical genetics, 2017 - Wiley Online Library
Primary ovarian insufficiency (POI) is characterized by a loss of ovarian function before the
age of 40 and account for one major cause of female infertility. POI relevance is continuously …

[HTML][HTML] Galactose in human metabolism, glycosylation and congenital metabolic diseases: Time for a closer look

F Conte, N van Buuringen, NC Voermans… - Biochimica et Biophysica …, 2021 - Elsevier
Galactose is an essential carbohydrate for cellular metabolism, as it contributes to energy
production and storage in several human tissues while also being a precursor for …

[HTML][HTML] Genes involved in human premature ovarian failure

L Persani, R Rossetti… - Journal of molecular …, 2010 - endocrinology-journals.org
Premature ovarian failure (POF) is an ovarian defect characterized by the premature
depletion of ovarian follicles before the age of 40 years, representing one major cause of …

Hereditary galactosemia

D Demirbas, AI Coelho, ME Rubio-Gozalbo, GT Berry - Metabolism, 2018 - Elsevier
Hereditary galactosemia is an inborn error of carbohydrate metabolism. Galactose is
metabolized by Leloir pathway enzymes; galactokinase (GALK), galactose-1-phosphate …

The natural history of classic galactosemia: lessons from the GalNet registry

ME Rubio-Gozalbo, M Haskovic, AM Bosch… - Orphanet journal of rare …, 2019 - Springer
Background Classic galactosemia is a rare inborn error of carbohydrate metabolism, caused
by a severe deficiency of the enzyme galactose-1-phosphate uridylyltransferase (GALT). A …

Sweet and sour: an update on classic galactosemia

AI Coelho, ME Rubio-Gozalbo, JB Vicente… - Journal of inherited …, 2017 - Springer
Classic galactosemia is a rare inherited disorder of galactose metabolism caused by
deficient activity of galactose-1-phosphate uridylyltransferase (GALT), the second enzyme of …

Identification of multiple gene mutations accounts for a new genetic architecture of primary ovarian insufficiency

J Bouilly, I Beau, S Barraud, V Bernard… - The Journal of …, 2016 - academic.oup.com
Context: Idiopathic primary ovarian insufficiency (POI) is a major cause of amenorrhea and
infertility. POI affects 1% of women before age 40 years, and several genetic causes have …

Germ cell-specific Atg7 knockout results in primary ovarian insufficiency in female mice

ZH Song, HY Yu, P Wang, GK Mao, WX Liu, MN Li… - Cell death & …, 2015 - nature.com
Primary ovarian insufficiency (POI) is a common cause of infertility in around 1–2% of
women aged< 40 years. However, the mechanisms that cause POI are still poorly …

The molecular basis of galactosemia—Past, present and future

DJ Timson - Gene, 2016 - Elsevier
Galactosemia, an inborn error of galactose metabolism, was first described in the 1900s by
von Ruess. The subsequent 100 years has seen considerable progress in understanding …