Publications by authors named "Shohreh Vosoogh"
Article Synopsis
- Nuclear pore complexes (NPCs) are critical for transporting materials in and out of the nucleus, and their assembly relies on a transmembrane protein called NDC1, which is essential for recruiting another protein, ALADIN, to the nuclear envelope.
- Biallelic mutations in the NDC1 gene have been identified in individuals with a triple A-like syndrome (excluding adrenal insufficiency), characterized by symptoms such as intellectual disability, motor impairment, and demyelinating polyneuropathy, which are similar to those seen in triple A syndrome caused by ALADIN mutations.
- Research indicates that these mutations hinder the proper function of NDC1, affecting its ability to recruit ALADIN, thereby leading to the observed neurological symptoms and
Purpose: 5-methylcytosine RNA modifications are driven by NSUN methyltransferases. Although variants in NSUN2 and NSUN3 were associated with neurodevelopmental diseases, the physiological role of NSUN6 modifications on transfer RNAs and messenger RNAs remained elusive.
Methods: We combined exome sequencing of consanguineous families with functional characterization to identify a new neurodevelopmental disorder gene.