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
Bone morphogenetic protein receptor type 2 (BMPR2) encodes an evolutionarily conserved serine/threonine kinase that phosphorylates type-1 BMP receptors to mediate intercellular communication upon ligand binding. Loss-of-function variants in BMPR2 are known to cause pulmonary arterial hypertension and other cardiovascul...
Jung-Wan Mok, Carrie L. Welch, Haley A. Dostalik et al.· American Journal of Human Ge...· 0 citations
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
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