Protein Misfolding Disorders: A Trip into the ER

Indexed in: Scopus, EBSCO.

Neurodegenerative disorders such as Amyotrophic lateral sclerosis (ALS), Alzheimer’s disease (AD), Parkinson’s disease (PD), Prion-related disorders (PrD) and Huntington’s disease (HD) share a ...
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Heritable Neurodevelopmental Disorders and Endoplasmic Reticulum Stress

Pp. 88-93 (6)

Takashi Momoi and Eriko Fujita


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.


Divisions of Development and Differentiation, Department of Human Inherited Metabolic Disease, National Institute of Neuroscience, 4-1-1 Ogawahigashi-machi, Kodaira, Tokyo 187-8502, Japan.