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Shuhd BinEshaq

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Articles

Neurabin I haploinsufficiency disrupts ion channel regulation and synaptic maturation in human cortical neurons in neurodevelopmental disorders

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By Binte Zehra, Nesrin Mohamed, Muhammad Faizan, Dharana Satsangi, Alexander D. Giddey, Ahmad Farhat, Muhammad Ali Kumail, Nasna Nassir, Bipin Balan, Noor Kosaji, Mariam Eldesouky, Suhana Shiyas, Saif S. Alqassim, Awab Abdulhamid Ahmed, Marc Woodbury-Smith, Stefan Du Plessis, Dimitri J Stavropoulos, Stephen Scherer, Alawi A. Alsheikh-Ali, Reem Khalil, Mauro Pessia, Mohammed Uddin, Richa Tambi, Gilles Bru-Mercier, Nesreen K. Al-Jezawi, Talal Al Yazeedi, Shuhd BinEshaq, Nidhina Vinod, Mohammad Amiruddin Hashmi, Maria Cristina D’Adamo, Bakhrom K. Berdiev
| Nature Verified
Abstract Heterozygous loss-of-function variants in Neurabin I (PPP1R9A), responsible for encoding a cytoskeletal scaffolding protein essential for synaptic plasticity, are recurrently associated with neurodevelopmental and neuropsychiatric disorders, yet their direct effects on human neuronal maturation remain unclear.
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