- Abstract:
-
Inwardly rectifying potassium channels (Kir channels) control cell membrane K(+) fluxes and electrical signaling in diverse cell types. Heterozygous mutations in the human Kir6.2 gene (KCNJ11), the pore-forming subunit of the ATP-sensitive (K(ATP)) channel, cause permanent neonatal diabetes mellitus (PNDM). For some mutations, PNDM is accompanied by marked developmental delay, muscle weakness, and epilepsy (severe disease). To determine the molecular basis of these different phenotypes, we ex...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1073/pnas.0404756101
-
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- Journal:
- Proceedings of the National Academy of Sciences of the United States of America
- Volume:
- 101
- Issue:
- 50
- Pages:
- 17539-17544
- Publication date:
- 2004-12-05
- DOI:
- EISSN:
-
1091-6490
- ISSN:
-
0027-8424
- URN:
-
uuid:02115729-47fb-4169-84c3-ff49db08e762
- Source identifiers:
-
27047
- Local pid:
- pubs:27047
- Language:
- English
- Keywords:
- Copyright date:
- 2004
Journal article
Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features.
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