Sandra C P de Castro
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Explore the profile of Sandra C P de Castro including associated specialties, affiliations and a list of published articles.
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26
Citations
573
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Recent Articles
1.
Santos C, Marshall A, Murray A, Metcalfe K, Narayan P, de Castro S, et al.
Elife
. 2024 Dec;
12.
PMID: 39636098
Primary and secondary neurulation - processes that form the spinal cord - are incompletely understood in humans, largely due to the challenge of accessing neurulation-stage embryos (3-7 weeks post-conception). Here,...
2.
Leung K, Weston E, de Castro S, Nikolopoulou E, Sudiwala S, Savery D, et al.
FASEB J
. 2024 Jun;
38(11):e23738.
PMID: 38855924
Maternal nutrition contributes to gene-environment interactions that influence susceptibility to common congenital anomalies such as neural tube defects (NTDs). Supplemental myo-inositol (MI) can prevent NTDs in some mouse models and...
3.
Leung K, Santos C, de Castro S, Diaz D, Copp A, Waddington S, et al.
Mol Genet Metab
. 2024 May;
142(3):108496.
PMID: 38761651
Non-Ketotic Hyperglycinemia (NKH) is a rare inborn error of metabolism caused by impaired function of the glycine cleavage system (GCS) and characterised by accumulation of glycine in body fluids and...
4.
Bookey N, Drago P, Leung K, Hughes L, MacCooey A, Ozaki M, et al.
Mol Cell Proteomics
. 2024 Jan;
23(3):100718.
PMID: 38224738
A functional role has been ascribed to the human dihydrofolate reductase 2 (DHFR2) gene based on the enzymatic activity of recombinant versions of the predicted translated protein. However, the in ...
5.
Crane-Smith Z, de Castro S, Nikolopoulou E, Wolujewicz P, Smedley D, Lei Y, et al.
Hum Mol Genet
. 2023 Jun;
32(17):2681-2692.
PMID: 37364051
Orofacial clefts, including cleft lip and palate (CL/P) and neural tube defects (NTDs) are among the most common congenital anomalies, but knowledge of the genetic basis of these conditions remains...
6.
Leung K, de Castro S, Galea G, Copp A, Greene N
Front Genet
. 2021 Feb;
12:625120.
PMID: 33569080
Glycine cleavage system H protein (GCSH) is a component of the glycine cleavage system (GCS), a conserved protein complex that acts to decarboxylate glycine. Mutation of or , encoding the...
7.
Leung K, de Castro S, Santos C, Savery D, Prunty H, Gold-Diaz D, et al.
J Inherit Metab Dis
. 2020 Aug;
43(6):1186-1198.
PMID: 32743799
Glycine abundance is modulated in a tissue-specific manner by use in biosynthetic reactions, catabolism by the glycine cleavage system (GCS), and excretion via glycine conjugation. Dysregulation of glycine metabolism is...
8.
Massa V, Avagliano L, Grazioli P, de Castro S, Parodi C, Savery D, et al.
Birth Defects Res
. 2019 Nov;
112(2):205-211.
PMID: 31758757
Background: Neural tube defects (NTDs) result from failure of neural tube closure during embryogenesis. These severe birth defects of the central nervous system include anencephaly and spina bifida, and affect...
9.
Sudiwala S, Palmer A, Massa V, Burns A, Dunlevy L, de Castro S, et al.
Dis Model Mech
. 2019 Oct;
12(11).
PMID: 31636139
Neural tube defects (NTDs), including spina bifida and anencephaly, are among the most common birth defects worldwide, but their underlying genetic and cellular causes are not well understood. Some NTDs...
10.
Nikolopoulou E, Hirst C, Galea G, Venturini C, Moulding D, Marshall A, et al.
Nat Commun
. 2019 Jun;
10(1):2487.
PMID: 31171776
Lack or excess expression of the surface ectoderm-expressed transcription factor Grainyhead-like2 (Grhl2), each prevent spinal neural tube closure. Here we investigate the causative mechanisms and find reciprocal dysregulation of epithelial...