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OTUD6B

From The Labs

Of mice, men and proteasomes; OTUD6B variant causes intellectual and physical disability

May 3, 2017 Ana Rodríguez 0 Comments developmental disorders, Human genetics, intellectual disabilities, Mouse models, OTUD6B, physical disabilities, proteasome, whole exome sequencing

One of Dr. Magdalena Walkiewicz’s patients had not received a genetic diagnosis for his condition that included a number of intellectual and physical disabilities. After

From the Labs features an image pinpointing the location of Man1b1 inside the cell, which sharpened the view of cellular regulation of protein homeostasis. Image courtesy of the Sifers lab/Molecular Biology of the Cell, 2011.