Angelman Syndrome Research This is an RSS file. You can use it to subscribe to this data in your favourite RSS reader or to display this data on your own website or blog.

Translational research for the development of treatment of patients with neurogenetic diseases: An important step for Angelman syndrome
Eur J Paediatr Neurol. 2023 Nov 17:S1090-3798(23)00170-8. doi: 10.1016/j.ejpn.2023.11.008. Online ahead of print.NO ABSTRACTPMID:37989651 | DOI:10.1016/j.ejpn.2023.11.008 (Source: European Journal of Paediatric Neurology)
Source: European Journal of Paediatric Neurology - November 21, 2023 Category: Neurology Authors: Bernard Dan Source Type: research

GSE247766 The deletion of the Williams-Beuren Syndrome critical region dysregulate the expression of miR379-410 miRNA members in human isogenic iNeurons
Contributors : Marija Mihailovich ; Pierre-Luc Germain ; Prakruti Nanda ; Gerhard Schratt ; Giuseppe TestaSeries Type : Non-coding RNA profiling by high throughput sequencingOrganism : Homo sapiensWhile psychiatric disorders (e.g., schizophrenia) and autism spectrum disorders (ASD) are typically associated with a deficit in social behavior, the opposite trait of hypersociability is exhibited by individuals with specific neurodevelopmental disorders, e.g., Angelman Syndrome (AS) and Williams-Beuren Syndrome (WBS). We have recently reported that the deletion of the miR379-410 cluster in mice led to hypersocial behavior....
Source: GEO: Gene Expression Omnibus - November 15, 2023 Category: Genetics & Stem Cells Tags: Non-coding RNA profiling by high throughput sequencing Homo sapiens Source Type: research

Age of diagnosis for children with chromosome 15q syndromes
ConclusionUnderstanding variability in the age of diagnosis for chromosome 15 disorders is an important step in reducing the diagnostic odyssey and improving access to interventions for these populations. Results from this study provide a baseline by which to evaluate efforts to reduce the age of diagnosis for individuals with these conditions. (Source: Journal of Neurodevelopmental Disorders)
Source: Journal of Neurodevelopmental Disorders - November 7, 2023 Category: Neurology Source Type: research

Structure ‐based design of peptidomimetic inhibitors of PSD‐95 with improved affinity for the PDZ3 domain
Aberrant brain-derived neurotrophic factor signaling is associated with a range of neurological disorders. Targeting postsynaptic density protein-95 (PSD-95), a scaffolding protein in this pathway, provides opportunities for therapeutic invention. Here, we used structure-based design to develop a new Syn3 peptidomimetic compound series that targets the PDZ3 domain of PSD-95. The new compounds bind the PSD-95 PDZ3 domain and adjoining αC helix with 7-fold stronger affinity than prototype compound CN2097. Aberrant brain-derived neurotrophic factor (BDNF) signaling has been proposed to contribute to the pathophysiology of de...
Source: FEBS Letters - November 4, 2023 Category: Biochemistry Authors: Mandar T. Naik, Nandita Naik, Tony Hu, Szu ‐Huan Wang, John Marshall Tags: Research Letter Source Type: research

Structure ‐based design of peptidomimetic inhibitors of PSD‐95 with improved affinity for the PDZ3 domain
Aberrant brain-derived neurotrophic factor (BDNF) signaling is associated with a range of neurological disorders. Targeting postsynaptic density protein-95 (PSD-95), a scaffolding protein in this pathway, provides opportunities for therapeutic invention. Here, we used structure-based design to develop a new Syn3 peptidomimetic compound series that tar gets the PDZ3 domain of PSD-95. The new compounds bind the PSD-95 PDZ3 domain and adjoining αC helix with 7-fold stronger affinity than a prototype compound. Aberrant brain-derived neurotrophic factor (BDNF) signaling has been proposed to contribute to the p...
Source: FEBS Letters - October 31, 2023 Category: Biochemistry Authors: Mandar T. Naik, Nandita Naik, Tony Hu, Szu ‐Huan Wang, John Marshall Tags: Research Letter Source Type: research

Adult Gene Therapy for Epilepsy in a Model of Angelman Syndrome: Hope or Hype?
Epilepsy Curr. 2023 Aug 7;23(5):312-314. doi: 10.1177/15357597231191885. eCollection 2023 Sep-Oct.NO ABSTRACTPMID:37901779 | PMC:PMC10601042 | DOI:10.1177/15357597231191885 (Source: Epilepsy Curr)
Source: Epilepsy Curr - October 30, 2023 Category: Neurology Authors: John R Huguenard Source Type: research

Adult Gene Therapy for Epilepsy in a Model of Angelman Syndrome: Hope or Hype?
Epilepsy Curr. 2023 Aug 7;23(5):312-314. doi: 10.1177/15357597231191885. eCollection 2023 Sep-Oct.NO ABSTRACTPMID:37901779 | PMC:PMC10601042 | DOI:10.1177/15357597231191885 (Source: Epilepsy Currents)
Source: Epilepsy Currents - October 30, 2023 Category: Neurology Authors: John R Huguenard Source Type: research