Sandra P. De Castro

UCL Great Ormond Street Institute Of Child Health
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 20 publications

Spinal neural tube formation and tail development in human embryos.

Spinal neural tube formation and tail development in human embryos.

Journal: eLife

Published: December 05, 2024

AAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic Hyperglycinemia.

AAV-mediated expression of mouse or human GLDC normalises metabolic biomarkers in a GLDC-deficient mouse model of Non-Ketotic Hyperglycinemia.

Journal: Molecular genetics and metabolism

Published: February 14, 2024

A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.

A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.

Journal: Human molecular genetics

Published: April 10, 2023

The Differential Translation Capabilities of the Human DHFR2 Gene Indicates a Developmental and Tissue-Specific Endogenous Protein of Low Abundance.

The Differential Translation Capabilities of the Human DHFR2 Gene Indicates a Developmental and Tissue-Specific Endogenous Protein of Low Abundance.

Journal: Molecular & cellular proteomics : MCP

Published: December 08, 2022

Glycine Cleavage System H Protein Is Essential for Embryonic Viability, Implying Additional Function Beyond the Glycine Cleavage System.

Glycine Cleavage System H Protein Is Essential for Embryonic Viability, Implying Additional Function Beyond the Glycine Cleavage System.

Journal: Frontiers in genetics

Published: November 02, 2020

Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemia.

Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemia.

Journal: Journal of inherited metabolic disease

Published: May 06, 2020

Dynamic acetylation profile during mammalian neurulation.

Dynamic acetylation profile during mammalian neurulation.

Journal: Birth defects research

Published: September 16, 2019

Cellular mechanisms underlying Pax3-related neural tube defects and their prevention by folic acid.

Cellular mechanisms underlying Pax3-related neural tube defects and their prevention by folic acid.

Journal: Disease models & mechanisms

Published: September 06, 2019

Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.

Overexpression of Grainyhead-like 3 causes spina bifida and interacts genetically with mutant alleles of Grhl2 and Vangl2 in mice.

Journal: Human molecular genetics

Published: June 19, 2018

Spinal neural tube closure depends on regulation of surface ectoderm identity and biomechanics by Grhl2.

Spinal neural tube closure depends on regulation of surface ectoderm identity and biomechanics by Grhl2.

Journal: Nature communications

Published: May 18, 2018

bric à brac (bab), a central player in the gene regulatory network that mediates thermal plasticity of pigmentation in Drosophila melanogaster.

bric à brac (bab), a central player in the gene regulatory network that mediates thermal plasticity of pigmentation in Drosophila melanogaster.

Journal: PLoS genetics

Published: January 16, 2018

Neural tube closure depends on expression of Grainyhead-like 3 in multiple tissues.

Neural tube closure depends on expression of Grainyhead-like 3 in multiple tissues.

Journal: Developmental biology

Published: November 16, 2017

Showing 1-12 of 20

Last Updated: 09/26/2026