Nuclear speckles are small, membrane-less organelles that reside within the nucleus.
Nuclear speckles serve as a regulatory hub coordinating complex RNA metabolism steps …

Abstract Zhu‐Tokita‐Takenouchi‐Kim (ZTTK) syndrome is caused by de novo loss‐of‐
function variants in the SON gene (MIM# 617140). This multisystemic disorder is …

Abstract Zhu–Tokita–Takenouchi–Kim (ZTTK) syndrome, an intellectual disability syndrome
first described in 2016, is caused by heterozygous loss-of-function variants in SON. Its …

The pathophysiology of neurodevelopmental disorders involves vulnerable neural
populations, including striatal circuitry, and convergent molecular nodes, including …

Abstract Background Zhu‐Tokita‐Takenouchi‐Kim (ZTTK, OMIM# 617140) syndrome is a
rare, autosomal dominant genetic disorder caused by heterozygous variants in the SON …

In neurons, degradation of dendritic cargos requires RAB7 and dynein-mediated retrograde
transport to somatic lysosomes. To test if the dynein adapter RAB-interacting lysosomal …

BACKGROUND AND PURPOSE: Zhu-Tokita-Takenouchi-Kim syndrome is a severe
multisystem malformation disorder characterized by developmental delay and a diverse …

Zhu–Tokita–Takenouchi–Kim (ZTTK) syndrome, an intellectual disability syndrome first
described in 2016, is caused by heterozygous loss-of-function variants in SON …

Abstract Schinzel-Giedion Syndrome (SGS) is an ultra-rare Mendelian disorder caused by
gain-of-function mutations in the SETBP1 gene. While previous studies determined multiple …

Septo-optic dysplasia (SOD) syndrome is a rare congenital disorder characterized by a
classic triad of optic nerve/chiasm hypoplasia, agenesis of septum pellucidum and corpus …