A5046018582- Cellular transport and secretion
- Lysosomal Storage Disorders Research
- Neurological disorders and treatments
- Pluripotent Stem Cells Research
- Parkinson's Disease Mechanisms and Treatments
- RNA and protein synthesis mechanisms
- Nuclear Receptors and Signaling
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- RNA Research and Splicing
- Toxoplasma gondii Research Studies
University of Pennsylvania
2024
Children's Hospital of Philadelphia
2024
Northwestern University
2020-2021
Objective The study was undertaken to identify a monogenic cause of early onset, generalized dystonia. Methods consisted genome‐wide linkage analysis, exome and Sanger sequencing, clinical neurological examination, brain magnetic resonance imaging, protein expression studies in skin fibroblasts from patients. Results We identified heterozygous variant, c.388G>A, p.Gly130Arg, the eukaryotic translation initiation factor 2 alpha kinase ( EIF2AK2 ) gene, segregating with onset isolated...
Abstract Heterozygous variants in SYNGAP1 and STXBP1 lead to distinct neurodevelopmental disorders caused by haploinsufficient levels of post-synaptic pre-synaptic STXBP1, which are critical for normal synaptic function. While several gene-targeted therapeutic approaches have proven efficacious vitro , these often target regions the human gene that not conserved rodents, hindering pre-clinical development compounds their transition clinic. To overcome this limitation, here we generate...