Protein Misfolding Disorders: A Trip into the ER

Author(s): Takashi Momoi and Eriko Fujita

DOI: 10.2174/978160805013010901010088

Heritable Neurodevelopmental Disorders and Endoplasmic Reticulum Stress

Pp: 88-93 (6)

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Abstract

SHS investigation development is considered from the geographical and historical viewpoint. 3 stages are described. Within Stage 1 the work was carried out in the Department of the Institute of Chemical Physics in Chernogolovka where the scientific discovery had been made. At Stage 2 the interest to SHS arose in different cities and towns of the former USSR. Within Stage 3 SHS entered the international scene. Now SHS processes and products are being studied in more than 50 countries.

Abstract

The molecular pathogenesis of heritable neurodevelopmental disorders, including autism spectrum disorder (ASD) and speech-language disorder, is not well understood; although, several mutations in genes encoding neuroligin and FOXP2 have been identified. Here, we evaluate the relationship between the protein quality control system of the endoplasmic reticulum (ER) and the molecular pathogenesis of these disorders.

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