In the mid-1980s, the identification of serine and threonine residues on nuclear and
cytoplasmic proteins modified by a N-acetylglucosamine moiety (O-GlcNAc) via an O …

Male sex is a strong risk factor for autism spectrum disorder (ASD). The leading theory for a"
female protective effect"(FPE) envisions males and females have" differing thresholds" …

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 …

O-GlcNAc is a regulatory post-translational modification of nucleocytoplasmic proteins that
has been implicated in multiple biological processes, including transcription. In humans …

Intellectual disability (ID) is a heterogeneous clinical entity and includes an excess of males
who harbor variants on the X-chromosome (XLID). We report rare FAM50A missense …

Conserved protein kinases with core cellular functions have been frequently redeployed
during metazoan evolution to regulate specialized developmental processes. The Ser/Arg …

Intellectual disability (ID) is a neurodevelopmental condition that affects~ 1% of the world
population. In total 5− 10% of ID cases are due to variants in genes located on the X …

Proteostasis is essential in the mammalian brain where post‐mitotic cells must function for
decades to maintain synaptic contacts and memory. The brain is dependent on glucose and …

N-Acetylglucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an
essential and dynamic post-translational modification. The O-GlcNAc modification is present …

It is estimated that∼ 1% of the world's population has intellectual disability, with males
affected more often than females. OGT is an X-linked gene encoding for the enzyme O …