Publications by authors named "Stephen T Horan"
Kaufman oculocerebrofacial syndrome (KOS) is a severe autosomal recessive disorder characterized by intellectual disability, developmental delays, microcephaly, and characteristic dysmorphisms. Biallelic mutations of UBE3B, encoding for a ubiquitin ligase E3B are causative for KOS. In this report, we characterize neuronal functions of its murine ortholog Ube3b and show that Ube3b regulates dendritic branching in a cell-autonomous manner.
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- Vanishing white matter (VWM) is a lethal leukodystrophy caused by mutations in genes related to the translation initiation factor eIF2B, with disease severity influenced by genotype.
- Research using mouse models and patient tissue revealed that abnormal maturation of white matter astrocytes occurs before the disease develops and correlates with its severity.
- The study indicates that astrocytes play a crucial role in VWM progression and suggests they could be targeted for potential therapies, also highlighting their significance in other white matter disorders.