Normal brain functioning relies on high aerobic energy production provided by
mitochondria. Failure to supply a sufficient amount of energy, seen in different brain …

Autism spectrum disorder (ASD) is a neurodevelopmental disorder (NDD) characterized by
impairments in social communication and social interaction and the presence of repetitive …

Exome sequencing studies of autism spectrum disorders (ASDs) have identified many de
novo mutations but few recurrently disrupted genes. We therefore developed a modified …

Despite the high heritability of autism spectrum disorders (ASD), characterized by persistent
deficits in social communication and interaction and restricted, repetitive patterns of …

Congenital defects of neural tube closure (neural tube defects; NTDs) are among the
commonest and most severe disorders of the fetus and newborn. Disturbance of any of the …

De novo mutations in ADNP, which encodes activity-dependent neuroprotective protein
(ADNP), have recently been found to underlie Helsmoortel–Van der Aa syndrome, a …

Fused in sarcoma (FUS) and TAR DNA-binding protein 43 (TDP-43) are RNA-binding
proteins pathogenetically linked to amyotrophic lateral sclerosis (ALS) and frontotemporal …

De novo heterozygous mutations in activity-dependent neuroprotective protein (ADNP)
cause autistic ADNP syndrome. ADNP mutations impair microtubule (MT) function, essential …

Autophagy is a process preserving the balance between synthesis, degradation and
recycling of cellular components and is therefore essential for neuronal survival and …

CCCTC-binding factor (CTCF) and cohesin are key players in three-dimensional chromatin
organization. The topologically associating domains (TADs) demarcated by CTCF are …