Gray CH, McGarry LC, Spence HJ, Riboldi-Tunnicliffe A, Ozanne BW

Novel beta-propeller of the BTB-Kelch protein Krp1 provides a binding site for Lasp-1 that is necessary for pseudopodial extension.

J Biol Chem 284:30498-507 (2009)
DOI:10.1074/jbc.M109.023259

[rno:117537]

Ravenscroft G, Miyatake S, Lehtokari VL, Todd EJ, Vornanen P, Yau KS, Hayashi YK, Miyake N, Tsurusaki Y, Doi H, Saitsu H, Osaka H, Yamashita S, Ohya T, Sakamoto Y, Koshimizu E, Imamura S, Yamashita M, Ogata K, Shiina M, Bryson-Richardson RJ, Vaz R, Ceyhan O, Brownstein CA, Swanson LC, Monnot S, Romero NB, Amthor H, Kresoje N, Sivadorai P, Kiraly-Borri C, Haliloglu G, Talim B, Orhan D, Kale G, Charles AK, Fabian VA, Davis MR, Lammens M, Sewry CA, Manzur A, Muntoni F, Clarke NF, North KN, Bertini E, Nevo Y, Willichowski E, Silberg IE, Topaloglu H, Beggs AH, Allcock RJ, Nishino I, Wallgren-Pettersson C, Matsumoto N, Laing NG

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

Am J Hum Genet 93:6-18 (2013)
DOI:10.1016/j.ajhg.2013.05.004

[hsa:131377] [dre:795319 553257]