Intellectual disability (ID) and autism spectrum disorder (ASD) are the most common
developmental disorders present in humans. Combined, they affect between 3 and 5% of …

Protein ubiquitination is a posttranslational modification that plays an integral part in
mediating diverse cellular functions. The process of protein ubiquitination requires an …

Mitochondria play central roles in integrating pro-and antiapoptotic stimuli, and JNK is well
known to have roles in activating apoptotic pathways. We establish a critical link between …

Because of the unbalanced sex ratio (1.3–1.4 to 1) observed in intellectual disability (ID) and
the identification of large ID-affected families showing X-linked segregation, much attention …

In the last 20 years, it has become clear that developmental genes and their regulators,
noncoding RNAs including microRNAs and long-noncoding RNAs, within signaling …

Ubiquitination modulates a large repertoire of cellular functions and thus, dysregulation of
the ubiquitin system results in multiple human diseases, including cancer. Ubiquitination …

The glial cells of the cerebellum, and particularly astrocytes and oligodendrocytes, are
characterized by a remarkable phenotypic variety, in which highly peculiar morphological …

Abstract Development of the human skull and face is a highly orchestrated and complex
three-dimensional morphogenetic process, involving hundreds of genes controlling the …

Whole-gene duplications and missense variants in the HUWE1 gene (NM_031407. 6) have
been reported in association with intellectual disability (ID). Increased gene dosage has …

The sonic hedgehog (SHH) pathway regulates the development of the central nervous
system in vertebrates. Aberrant regulation of SHH signaling pathways often causes …