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Authors: Rojas-Charry, Liliana
Nardi, Leonardo
Methner, Axel
Schmeisser, Michael J.
Title: Abnormalities of synaptic mitochondria in autism spectrum disorder and related neurodevelopmental disorders
Online publication date: 29-Apr-2021
Language: english
Abstract: Autism spectrum disorder (ASD) is a neurodevelopmental condition primarily characterized by an impairment of social interaction combined with the occurrence of repetitive behaviors. ASD starts in childhood and prevails across the lifespan. The variability of its clinical presentation renders early diagnosis difficult. Mutations in synaptic genes and alterations of mitochondrial functions are considered important underlying pathogenic factors, but it is obvious that we are far from a comprehensive understanding of ASD pathophysiology. At the synapse, mitochondria perform diverse functions, which are clearly not limited to their classical role as energy providers. Here, we review the current knowledge about mitochondria at the synapse and summarize the mitochondrial disturbances found in mouse models of ASD and other ASD-related neurodevelopmental disorders, like DiGeorge syndrome, Rett syndrome, Tuberous sclerosis complex, and Down syndrome.
DDC: 610 Medizin
610 Medical sciences
Institution: Johannes Gutenberg-Universität Mainz
Department: FB 04 Medizin
Place: Mainz
Version: Published version
Publication type: Zeitschriftenaufsatz
License: CC BY
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Journal: Journal of molecular medicine
Pages or article number: 161
Publisher: Springer
Publisher place: Berlin u.a.
Issue date: 2021
ISSN: 1432-1440
Publisher URL:
Publisher DOI: 10.1007/s00109-020-02018-2
Appears in collections:JGU-Publikationen

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