Brain-specific serine/threonine kinase (BRSK1; synapses of amphids defective [SAD]-B) encodes an AMP-activated protein kinase (AMPK)-related serine/threonine kinase required for neuronal polarization and synaptic function. An individual with a variant in BRSK1 was identified in the Texome Project, which provides genomi...
Ming-Xi Deng, Meng-Qi Ma, Vanessa A. Gomez et al.· American Journal of Human Ge...· 0 citations
A rare recurrent missense variant in BMPR2 identified in six individuals, who all present with neurodevelopmental phenotypes including autism spectrum disorder and global developmental delay, is reported and shows that this variant causes neurodevelopmental defects in flies when expressed in neurons or glial cells.
Jung-Wan Mok, Carrie L. Welch, Haley A. Dostalik et al.· American Journal of Human Ge...· 1 citation
The AMG pathway is established as a mechanistic framework for identifying digenic etiologies in epilepsy and highlight potential therapeutic targets after it was demonstrated that reduced actin polymerization promoted DRP1-mediated mitochondrial fission, increased ROS levels, and enhanced glutamatergic transmission, le...
Shenzhao Lu, Mengqi Ma, Shabab B. Hannan et al.· Journal of Clinical Investig...· 0 citations
The findings implicate DCLK1 in a previously unrecognized progressive neurodevelopmental disorder and demonstrate the power of integrative cross-species functional genomics in resolving ultra-rare disease variants.
David F. Butler, Wei-Xi Yuan, Hirokazu Hashimoto et al.· Research Square· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
