Publications by authors named "R C Schnur"
SCY1-like protein 2 (SCYL2) is a member of the SCY1-like pseudokinase family which regulates secretory protein trafficking. It plays a crucial role in the nervous system by suppressing excitotoxicity in the developing brain. Scyl2 knockout mice have excess prenatal mortality and survivors show severe neurological dysfunction.
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- - The p21-activated kinase (PAK) family regulates important cellular processes, including cell adhesion, movement, growth, and programmed cell death, with PAK2 specifically playing a role in apoptosis and angiogenesis.
- - A new missense variant, p.(Thr406Met), was discovered in a newborn with symptoms of Knobloch syndrome, alongside another variant, p.(Asp425Asn), both leading to significantly reduced PAK2 protein activity.
- - These findings suggest that deficiencies in PAK2 are linked to a second form of Knobloch syndrome, known as KNO2, supporting previous research on related PAK2 variants.
Article Synopsis
- HCN gated channels play a vital role in brain functions like learning and sensory processing, and their dysfunction is linked to brain disorders, particularly epilepsy.
- The study identifies 21 individuals with genetic variations associated with developmental delays, intellectual disabilities, and epilepsy, expanding our understanding of related disorders.
- Functional tests on specific variants revealed that some mutations significantly increased HCN2 channel conductance, while others caused loss of function and impaired channel trafficking, suggesting diverse impacts of these variants on brain function.
Article Synopsis
- The DIP2 gene, first found in fruit flies, is crucial for neuron branching and regeneration, with vertebrate versions (DIP2A, DIP2B, and DIP2C) being highly conserved in the central nervous system.
- Research showed that mutations in DIP2C are linked to developmental delays in expressive language and speech articulation in 23 affected individuals.
- Alongside developmental issues, some individuals with DIP2C variants also presented with various cardiac defects and minor facial anomalies, highlighting a connection between the gene's loss-of-function and neurocognitive and physical phenotypes.
Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked to diverse processes including oncogenesis and development, but germline variants have not been characterized in association with disease.
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