We observed a severe autosomal recessive movement disorder in mice used within our laboratory. We pursued a series of experiments to define the genetic lesion underlying this disorder and to identify
Background Kabuki syndrome (KS) is a genetic disorder caused by DNA mutations in KMT2D, a lysine methyltransferase that methylates histones and other proteins, and therefore modifies chromatin structu
Structure of FANCA and FANCG Complex Descriptor: Fanconi anemia complementation group A, Fanconi anemia complementation group G Authors: Jeong, E, Lee, S, Shin, J, Kim, Y, Scharer, O, Kim, Y, Kim, H,
Dystrophin is a large protein involved in the rare genetic disease Duchenne muscular dystrophy (DMD). It functions as a mechanical linker between the cytoskeleton and the sarcolemma, and is able to re
