Genetics and genomics of autism spectrum disorder: embracing complexity

S De Rubeis, JD Buxbaum - Human molecular genetics, 2015 - academic.oup.com
Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by
impairments in social communication and social interaction and the presence of repetitive …

Mitochondria, metabolism, and redox mechanisms in psychiatric disorders

Y Kim, KC Vadodaria, Z Lenkei, T Kato… - Antioxidants & redox …, 2019 - liebertpub.com
Significance: Our current knowledge of the pathophysiology and molecular mechanisms
causing psychiatric disorders is modest, but genetic susceptibility and environmental factors …

Deficient autophagy in microglia impairs synaptic pruning and causes social behavioral defects

HJ Kim, MH Cho, WH Shim, JK Kim, EY Jeon… - Molecular …, 2017 - nature.com
Autism spectrum disorders (ASDs) are neurodevelopmental disorders caused by various
genetic and environmental factors that result in synaptic abnormalities. ASD development is …

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1

DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif… - autophagy, 2021 - Taylor & Francis
In 2008, we published the first set of guidelines for standardizing research in autophagy.
Since then, this topic has received increasing attention, and many scientists have entered …

SH3-and actin-binding domains connect ADNP and SHANK3, revealing a fundamental shared mechanism underlying autism

Y Ivashko-Pachima, M Ganaiem… - Molecular …, 2022 - nature.com
De novo heterozygous mutations in activity-dependent neuroprotective protein (ADNP)
cause autistic ADNP syndrome. ADNP mutations impair microtubule (MT) function, essential …

Perturbed iron biology in the prefrontal cortex of people with schizophrenia

A Lotan, S Luza, CM Opazo, S Ayton, DJR Lane… - Molecular …, 2023 - nature.com
Despite loss of grey matter volume and emergence of distinct cognitive deficits in young
adults diagnosed with schizophrenia, current treatments for schizophrenia do not target …

[HTML][HTML] Dual role of autophagy in diseases of the central nervous system

T Bar-Yosef, O Damri, G Agam - Frontiers in cellular neuroscience, 2019 - frontiersin.org
Autophagy is a vital lysosomal degradation and recycling pathway in the eukaryotic cell,
responsible for maintaining an intricate balance between cell survival and cell death …

Pleiotropic effects of mTOR and autophagy during development and aging

K Schmeisser, JA Parker - Frontiers in cell and developmental biology, 2019 - frontiersin.org
Autophagy as a ubiquitous catabolic process causes degradation of cytoplasmic
components and is generally considered to have beneficial effects on health and lifespan. In …

Chromatin remodeler Activity-Dependent Neuroprotective Protein (ADNP) contributes to syndromic autism

CP D'Incal, KE Van Rossem, K De Man, A Konings… - Clinical …, 2023 - Springer
Background Individuals affected with autism often suffer additional co-morbidities such as
intellectual disability. The genes contributing to autism cluster on a relatively limited number …

Tauopathy in the young autistic brain: novel biomarker and therapeutic target

I Grigg, Y Ivashko-Pachima, TA Hait… - Translational …, 2020 - nature.com
Given our recent discovery of somatic mutations in autism spectrum disorder
(ASD)/intellectual disability (ID) genes in postmortem aged Alzheimer's disease brains …