ABCMdb

PMID: 26621776

Cooper PE, Sala-Rabanal M, Lee SJ, Nichols CG
Differential mechanisms of Cantu syndrome-associated gain of function mutations in the ABCC9 (SUR2) subunit of the KATP channel.
J Gen Physiol. 2015 Dec;146(6):527-40. doi: 10.1085/jgp.201511495., [PubMed]

Sentences

No. Mutations Sentence Comment

17 ABCC9 p.Cys1043Tyr ABCC9 p.Ala478Val ABCC9 p.Pro432Leu Here, we have focused on determining the functional consequences of three documented human CS-associated ABCC9 mutations: human P432L, A478V, and C1043Y. Login to comment 57 ABCC9 p.Ala478Val ABCC9 p.Pro432Leu ABCC9 mutagenesis and heterologous expression of KATP channels The Quick Change II Site-Directed Mutagenesis kit (Agilent Technologies) was used to engineer P429L, A475V, and C1039Y mutations (equivalent to CS-associated P432L, A478V, and C1043Y mutations in human SUR2; Harakalova et al., 2012; van Bon et al., 2012) into rat SUR2A-pCMV6. Login to comment 86 ABCC9 p.Pro432Leu C1039Y, respectively), located in the TMD1 and TMD2 segments, and P432L (corresponding to rat P429L), also located in the TMD1 region. Login to comment 98 ABCC9 p.Ala478Val For the present study, we focused on two previously unexamined mutations (human A478V and C1043Y corresponding to rat A475V and Figure 7.ߓ P429L and A475V show enhanced MgADP activation. Login to comment 218 ABCC8 p.Leu225Pro A mutation in the TMD0-L0 region of sulfonylurea receptor-1 (L225P) causes permanent neonatal diabetes mellitus (PNDM). Login to comment 232 ABCC8 p.Phe132Leu Mechanism of action of a sulphonylurea receptor SUR1 mutation (F132L) that causes DEND syndrome. Login to comment 240 ABCC8 p.Pro1198Leu Science. 245:177-180. http://dx.doi.org/10.1126/science.2501869 Takagi, T., H. Furuta, M. Miyawaki, K. Nagashima, T. Shimada, A. Doi,S.Matsuno,D.Tanaka,M.Nishi,H.Sasaki,etal.2013.Clinical and functional characterization of the Pro1198Leu ABCC8 gene mutation associated with permanent neonatal diabetes mellitus. Login to comment