Variants in ADD1cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans

Autor: Qi, Cai, Feng, Irena, Costa, Ana Rita, Pinto-Costa, Rita, Neil, Jennifer E., Caluseriu, Oana, Li, Dong, Ganetzky, Rebecca D., Brasch-Andersen, Charlotte, Fagerberg, Christina, Hansen, Lars Kjærsgaard, Bupp, Caleb, Muraresku, Colleen Clarke, Ruan, Xiangbin, Kang, Bowei, Hu, Kaining, Zhong, Rong, Brites, Pedro, Bhoj, Elizabeth J., Hill, Robert Sean, Falk, Marni J., Hakonarson, Hakon, Kahle, Kristopher T., Sousa, Monica M., Walsh, Christopher A., Zhang, Xiaochang
Zdroj: Genetics in Medicine; February 2022, Vol. 24 Issue: 2 p319-331, 13p
Abstrakt: Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown.
Databáze: Supplemental Index