Copper dyshomeostasis in neurodegenerative diseases—therapeutic implications

G Gromadzka, B Tarnacka, A Flaga… - International journal of …, 2020 - mdpi.com
Copper is one of the most abundant basic transition metals in the human body. It takes part
in oxygen metabolism, collagen synthesis, and skin pigmentation, maintaining the integrity …

The molecular and cellular effect of homocysteine metabolism imbalance on human health

H Škovierová, E Vidomanová, S Mahmood… - International journal of …, 2016 - mdpi.com
Homocysteine (Hcy) is a sulfur-containing non-proteinogenic amino acid derived in
methionine metabolism. The increased level of Hcy in plasma, hyperhomocysteinemia, is …

Structural basis for molecular recognition of folic acid by folate receptors

C Chen, J Ke, XE Zhou, W Yi, JS Brunzelle, J Li… - Nature, 2013 - nature.com
Folate receptors (FRα, FRβ and FRγ) are cysteine-rich cell-surface glycoproteins that bind
folate with high affinity to mediate cellular uptake of folate. Although expressed at very low …

Effects and safety of periconceptional oral folate supplementation for preventing birth defects

LM De‐Regil, JP Peña‐Rosas… - Cochrane database …, 2015 - cochranelibrary.com
Background It has been reported that neural tube defects (NTD) can be prevented with
periconceptional folic acid supplementation. The effects of different doses, forms and …

To err (meiotically) is human: the genesis of human aneuploidy

T Hassold, P Hunt - Nature Reviews Genetics, 2001 - nature.com
Aneuploidy (trisomy or monosomy) is the most commonly identified chromosome
abnormality in humans, occurring in at least 5% of all clinically recognized pregnancies …

Causal knowledge as a prerequisite for confounding evaluation: an application to birth defects epidemiology

MA Hernán, S Hernández-Díaz… - American journal of …, 2002 - academic.oup.com
Common strategies to decide whether a variable is a confounder that should be adjusted for
in the analysis rely mostly on statistical criteria. The authors present findings from the Slone …

Neural tube defects, folic acid and methylation

A Imbard, JF Benoist, HJ Blom - International journal of environmental …, 2013 - mdpi.com
Neural tube defects (NTDs) are common complex congenital malformations resulting from
failure of the neural tube closure during embryogenesis. It is established that folic acid …

Folate: metabolism, genes, polymorphisms and the associated diseases

FH Nazki, AS Sameer, BA Ganaie - Gene, 2014 - Elsevier
Folate being an important vitamin of B Complex group in our diet plays an important role not
only in the synthesis of DNA but also in the maintenance of methylation reactions in the …

Specific and common genes implicated across major mental disorders: a review of meta-analysis studies

JM Gatt, KLO Burton, LM Williams… - Journal of psychiatric …, 2015 - Elsevier
Major efforts have been directed at family-based association and case–control studies to
identify the involvement of candidate genes in the major disorders of mental health. What …

Genetics of male infertility: from research to clinic

C Krausz, AR Escamilla, C Chianese - Reproduction, 2015 - rep.bioscientifica.com
Male infertility is a multifactorial complex disease with highly heterogeneous phenotypic
representation and in at least 15% of cases, this condition is related to known genetic …