Human genetics has substantially advanced our understanding of the Rho GTPase signaling network in brain development and established its dysregulation as an important mechanism underlying neurodevelopmental disorders (NDDs). Through the spatiotemporal control of actin cytoskeleton dynamics, canonical and atypical Rho G...
A. Falace, Mohammad Sadegh Shams Nosrati, Alireza Dostmohammadi et al.· Neurobiology of Disease· 0 citations
The findings suggest that LiCl may serve as a potential therapeutic strategy for patients with WDFY3 LoF variants and expand on the phenotype related to WDFY3 LoF and provide insights into the pathophysiology using in vitro human and murine neuronal models.
Moritz J. Paha, Arshi Mustafa, Lyvin Tat et al.· Molecular Psychiatry· 0 citations
Advances reframe kinesinopathies as mechanistically stratified disorders of neuronal transport as well as translational implications, including variant-resolved diagnosis and precision strategies to restore transport, dampen pathological hyperactivity, or stabilize the microtubule track.
Mohammad Sadegh Shams Nosrati, Morteza Doustmohammadi, Alireza Dostmohammadi et al.· Current Issues in Molecular...· 0 citations
It is demonstrated that early-onset MORC2-associated disorders segregate into two principal neurological phenotypes: a predominantly neuromuscular form and a central nervous system-predominant form.
A. Murtazina, Eugenii Tatarsky, I. Viakhireva et al.· Journal of Medical Genetics· 0 citations
An integrative study combining Mendelian genetics, clinical and association studies, and animal and molecular modeling supports variants in ELAVL2 as a cause of a neurodevelopmental disorder, with haploinsufficiency as the disease mechanism, and identifies crucial roles of ELAVL2 in neuronal function, cognition, and be...
Marina Boon, Meghan R. Mulligan, Jolijn J. A. Verseput et al.· American Journal of Human Ge...· 0 citations
This review synthesizes contemporary insights into the genetic and molecular pathophysiology of seizures and epilepsy, with emphasis on mechanisms that destabilize excitation–inhibition balance, promote epileptogenesis, and drive pharmacoresistance and supports more refined approaches to epilepsy classification and fut...
Mohammad Reza Seyedtaghia, Jina Babanzadeh, M. Scala et al.· Epilepsia Open· 0 citations
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