RNA-Seq analysis in an avian model of maternal phenylketonuria

Watson, Jamie N.; Seagraves, Nikki J.

doi:10.1016/j.ymgme.2018.09.003

Cited by 8 publications

(2 citation statements)

References 49 publications

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“…This has been mimicked in studies in mouse and chick (Seagraves and McBride 2012;Watson and Seagraves 2019). Transcriptomic analysis of the chick model suggests that phenylalanine teratogenicity may act through dysregulation of RA signaling (Watson and Seagraves 2019). This is supported by the observation that the characteristic facial phenotype of PKU-affected patients is often very similar to those of FASD (Levy and Ghavami 1996), which has also been associated with perturbed RA signaling (see above).…”

Section: Obesitymentioning

confidence: 84%

“…Overall, there is a greater than sixfold increased risk of CHD in offspring of mothers with PKU (Platt et al 2000;Levy et al 2001). This has been mimicked in studies in mouse and chick (Seagraves and McBride 2012;Watson and Seagraves 2019). Transcriptomic analysis of the chick model suggests that phenylalanine teratogenicity may act through dysregulation of RA signaling (Watson and Seagraves 2019).…”

Section: Obesitymentioning

confidence: 92%

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Environmental Risk Factors for Congenital Heart Disease

Kalisch-Smith

Ved

Sparrow

2019

Cold Spring Harb Perspect Biol

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Congenital heart disease (CHD) has many forms and a wide range of causes. Clinically, it is important to understand the causes. This allows estimation of recurrence rate, guides treatment options, and may also be used to formulate public health advice to reduce the population prevalence of CHD. The recent advent of sophisticated genetic and genomic methods has led to the identification of more than 100 genes associated with CHD. However, despite these great strides, to date only one-third of CHD cases have been shown to have a simple genetic cause. This is because CHD can also be caused by oligogenic factors, environmental factors, and/or gene-environment interaction. Although solid evidence for environmental causes of CHD have been available for almost 80 years, it is only very recently that the molecular mechanisms for these risk factors have begun to be investigated. In this review, we describe the most important environmental CHD risk factors, and what is known about how they cause CHD.

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Section: Obesitymentioning

confidence: 84%

Section: Obesitymentioning

confidence: 92%

Environmental Risk Factors for Congenital Heart Disease

Kalisch-Smith

Ved

Sparrow

2019

Cold Spring Harb Perspect Biol

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Current Advances and Material Innovations in the Search for Novel Treatments of Phenylketonuria

Delbreil,

Dhondt,

Kenaan El Rahbani

et al. 2024

Adv Healthcare Materials

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Phenylketonuria (PKU) is a genetically inherited disease caused by a mutation of the gene encoding phenylalanine hydroxylase (PAH) and is the most common inborn error of amino acid metabolism. A deficiency of PAH leads to increased blood and brain levels of phenylalanine (Phe), which may cause permanent neurocognitive symptoms and developmental delays if untreated. Current management strategies for PKU consist of early detection through neonatal screening and implementation of a restrictive diet with minimal amounts of natural protein in combination with Phe‐free supplements and low‐protein foods to meet nutritional requirements. For milder forms of PKU, oral treatment with synthetic sapropterin (BH4), the cofactor of PAH, may improve metabolic control of Phe and allow for more natural protein to be included in the patient's diet. For more severe forms, daily injections of pegvaliase, a PEGylated variant of phenylalanine ammonia‐lyase (PAL), may allow for normalization of blood Phe levels. However, the latter treatment has considerable drawbacks, notably a strong immunogenicity of the exogenous enzyme and the attached polymeric chains. Research for novel therapies of PKU has made use of innovative materials for drug delivery and state‐of‐the‐art protein engineering techniques to develop treatments which are safer, more effective, and potentially permanent.This article is protected by copyright. All rights reserved

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The crucial role of model systems in understanding the complexity of cell signaling in human neurocristopathies

Cerrizuela

Vega-Lopez

Méndez-Maldonado

et al. 2021

WIREs Mechanisms of Disease

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Animal models are useful to study the molecular, cellular, and morphogenetic mechanisms underlying normal and pathological development. Cell‐based study models have emerged as an alternative approach to study many aspects of human embryonic development and disease. The neural crest (NC) is a transient, multipotent, and migratory embryonic cell population that generates a diverse group of cell types that arises during vertebrate development. The abnormal formation or development of the NC results in neurocristopathies (NCPs), which are characterized by a broad spectrum of functional and morphological alterations. The impaired molecular mechanisms that give rise to these multiphenotypic diseases are not entirely clear yet. This fact, added to the high incidence of these disorders in the newborn population, has led to the development of systematic approaches for their understanding. In this article, we have systematically reviewed the ways in which experimentation with different animal and cell model systems has improved our knowledge of NCPs, and how these advances might contribute to the development of better diagnostic and therapeutic tools for the treatment of these pathologies. This article is categorized under: Congenital Diseases > Genetics/Genomics/Epigenetics Congenital Diseases > Stem Cells and Development Congenital Diseases > Molecular and Cellular Physiology Neurological Diseases > Genetics/Genomics/Epigenetics

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RNA-Seq analysis in an avian model of maternal phenylketonuria

Cited by 8 publications

References 49 publications

Environmental Risk Factors for Congenital Heart Disease

Environmental Risk Factors for Congenital Heart Disease

Current Advances and Material Innovations in the Search for Novel Treatments of Phenylketonuria

The crucial role of model systems in understanding the complexity of cell signaling in human neurocristopathies

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