The involvement of cell death and survival in neural tube defects: a distinct role for apoptosis and autophagy?

2008 ◽  
Vol 15 (7) ◽  
pp. 1170-1177 ◽  
Author(s):  
F Cecconi ◽  
M Piacentini ◽  
G M Fimia
Keyword(s):  
Cell Death ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Distinct Role

scholarly journals Formation of neurodegenerative aggresome and death-inducing signaling complex in maternal diabetes-induced neural tube defects

2017 ◽  
Vol 114 (17) ◽  
pp. 4489-4494 ◽  
Author(s):  
Zhiyong Zhao ◽  
Lixue Cao ◽  
E. Albert Reece
Keyword(s):  
Cell Death ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Protein Misfolding ◽  
Maternal Diabetes ◽  
Misfolded Proteins ◽  
Caspase 8 ◽  
Signaling Complex

Diabetes mellitus in early pregnancy increases the risk in infants of birth defects, such as neural tube defects (NTDs), known as diabetic embryopathy. NTDs are associated with hyperglycemia-induced protein misfolding and Caspase-8–induced programmed cell death. The present study shows that misfolded proteins are ubiquitinylated, suggesting that ubiquitin-proteasomal degradation is impaired. Misfolded proteins form aggregates containing ubiquitin-binding protein p62, suggesting that autophagic-lysosomal clearance is insufficient. Additionally, these aggregates contain the neurodegenerative disease-associated proteins α-Synuclein, Parkin, and Huntingtin (Htt). Aggregation of Htt may lead to formation of a death-inducing signaling complex of Hip1, Hippi, and Caspase-8. Treatment with chemical chaperones, such as sodium 4-phenylbutyrate (PBA), reduces protein aggregation in neural stem cells in vitro and in embryos in vivo. Furthermore, treatment with PBA in vivo decreases NTD rate in the embryos of diabetic mice, as well as Caspase-8 activation and cell death. Enhancing protein folding could be a potential interventional approach to preventing embryonic malformations in diabetic pregnancies.

Lessons from dolutegravir and neural tube defects

2021 ◽  
Vol 8 (1) ◽  
pp. e3-e4
Author(s):  
Elaine Abrams ◽  
Landon Myer
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects

A Public Health Success Story: Folic Acid Fortification and Supplementation for Prevention of Neural Tube Defects

2004 ◽  
Author(s):  
Linda Longerich ◽  
Roy West ◽  
Ed Randell ◽  
Marian Crowley ◽  
Shiliang Liu ◽  
...  
Keyword(s):  
Public Health ◽  
Folic Acid ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
Success Story ◽  
Folic Acid Fortification

Detection of spina bifida in the first trimester of gestation in association with triploidy

2017 ◽  
Author(s):  
K.K. Otaryan , C.G. Gagaev
Keyword(s):  
Spina Bifida ◽  
Early Detection ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
First Trimester ◽  
Termination Of Pregnancy ◽  
Diagnostic Tools ◽  
Prenatal Detection ◽  
Post Abortion

The case of prenatal detection of spina bifida at 12+3 weeks of gestation is described. Termination of pregnancy was performed at 13+3 weeks. Post-abortion karyotyping revealed triploidy (69XXX). Diagnostic tools for early detection of neural tube defects in the 1st trimester of gestation and subsequent appropriate management of pregnancy are discussed.

Neural tube defects: prenatal screening.

1996 ◽  
Vol 166 (2) ◽  
pp. 466-467 ◽  
Author(s):  
G K Sickler ◽  
D A Nyberg
Keyword(s):  
Neural Tube ◽  
Neural Tube Defects ◽  
Prenatal Screening

scholarly journals Loss of p53 Causes Stochastic Aberrant X-Chromosome Inactivation and Female-Specific Neural Tube Defects

Cell Reports ◽  
2019 ◽  
Vol 27 (2) ◽  
pp. 442-454.e5 ◽  
Author(s):  
Alex R.D. Delbridge ◽  
Andrew J. Kueh ◽  
Francine Ke ◽  
Natasha M. Zamudio ◽  
Farrah El-Saafin ◽  
...  
Keyword(s):  
X Chromosome ◽  
Neural Tube ◽  
Neural Tube Defects ◽  
X Chromosome Inactivation ◽  
Chromosome Inactivation ◽  
Female Specific
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