Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel <i>PPP2R1A</i> Variant and Its Unreported Phenotype

Advanced Optical Microscopy: Unveiling Functional Insights Regarding a Novel <i>PPP2R1A</i> Variant and Its Unreported Phenotype

The number of genes implicated in neurodevelopmental conditions is rapidly growing. Recently, variants in <i>PPP2R1A</i> have been associated with syndromic intellectual disability and a consistent, but still expanding, phenotype. The <i>PPP2R1A</i> gene encodes a protein sub...

Full description

Bibliographic Details
Main Authors: Mònica Roldán, Gregorio Alexander Nolasco, Lluís Armengol, Marcos Frías, Marta Morell, Manel García-Aragonés, Florencia Epifani, Jordi Muchart, María Luisa Ramírez-Almaraz, Loreto Martorell, Cristina Hernando-Davalillo, Roser Urreizti, Mercedes Serrano
Format: Article
Language:English
Published: MDPI AG 2023-09-01
Series:International Journal of Molecular Sciences
Subjects:
functional studies
cerebellar atrophy
confocal microscopy
neurodevelopmental disorders
pontocerebellar hypoplasia
<i>PPP2R1A</i>
Online Access:https://www.mdpi.com/1422-0067/24/18/13699

Internet

https://www.mdpi.com/1422-0067/24/18/13699

Similar Items