Genetic defects in the hotspot of inwardly rectifying K+ (Kir) channels and their metabolic consequences: A review

Molecular Genetics and Metabolism

Volumn 105, Issue 1, 2012, Pages 64-72

  Pattnaik, Bikash R ^a,b   Asuma, Matti P ^a   Spott, Ryan ^a   Pillers, De Ann M ^a,b  

^a UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

^b UNIVERSITY OF WISCONSIN MADISON   (United States)

Author keywords

Andersen Tawil syndrome; EAST SeSAME syndrome; KCNJ; Kir channelopathy; Phosphoinositides; Retinopathy

Indexed keywords

ADENOSINE TRIPHOSPHATASE (POTASSIUM SODIUM); INWARDLY RECTIFYING POTASSIUM CHANNEL; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR1.1; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR2.1; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR3.1; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR4.1; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR5.1; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR6.2; INWARDLY RECTIFYING POTASSIUM CHANNEL SUBUNIT KIR7.1; UNCLASSIFIED DRUG;

AMINO ACID SEQUENCE; ANDERSEN SYNDROME; BARTTER SYNDROME; CARBOXY TERMINAL SEQUENCE; DEND SYNDROME; DIABETES MELLITUS; EAST SYNDROME; GAIN OF FUNCTION MUTATION; GENE CLUSTER; GENE EXPRESSION; GENE LOCATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC DISORDER; HEART FAILURE; HUMAN; HYPERPROSTAGLANDIN E SYNDROME; INSULINOMA; KIDNEY FAILURE; LEBER CONGENITAL AMAUROSIS; LOSS OF FUNCTION MUTATION; MEMBRANE STEADY POTENTIAL; MULTIGENE FAMILY; NEWBORN DIABETES MELLITUS; PERMANENT NEONATAL DIABETES MELLITUS; POTASSIUM CHANNELOPATHY; POTASSIUM TRANSPORT; PRIORITY JOURNAL; PROTEIN DOMAIN; REVIEW; SESAME SYNDROME; SNOWFLAKE VITREORETINAL DEGENERATION; VITREORETINAL DEGENERATION;

AMINO ACID SEQUENCE; HUMANS; ION CHANNEL GATING; MOLECULAR SEQUENCE DATA; MUTATION; POTASSIUM CHANNELS, INWARDLY RECTIFYING;

EID: 84855354888     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2011.10.004     Document Type: Review

References (114)

1. Sharman J.L., Mpamhanga C.P., Spedding M., Germain P., Staels B., Dacquet C., Laudet V., Harmar A.J. IUPHAR-DB: new receptors and tools for easy searching and visualization of pharmacological data. Nucleic Acids Res. 2011, 39:D534-D538.
2. Hibino H., Inanobe A., Furutani K., Murakami S., Findlay I., Kurachi Y. Inwardly rectifying potassium channels: their structure, function, and physiological roles. Physiol. Rev. 2010, 90:291-366.
3. Neusch C., Weishaupt J.H., Bahr M. Kir channels in the CNS: emerging new roles and implications for neurological diseases. Cell Tissue Res. 2003, 311:131-138.
4. Abraham M.R., Jahangir A., Alekseev A.E., Terzic A. Channelopathies of inwardly rectifying potassium channels. FASEB J. 1999, 13:1901-1910.
5. Loussouarn G., Rose T., Nichols C.G. Structural basis of inward rectifying potassium channel gating. Trends Cardiovasc. Med. 2002, 12:253-258.
6. Tao X., Avalos J.L., Chen J., MacKinnon R. Crystal structure of the eukaryotic strong inward-rectifier K+ channel Kir2.2 at 3.1A resolution. Science 2009, 326:1668-1674.
7. Bichet D., Haass F.A., Jan L.Y. Merging functional studies with structures of inward-rectifier K(+) channels. Nat. Rev. Neurosci. 2003, 4:957-967.
8. Clarke O.B., Caputo A.T., Hill A.P., Vandenberg J.I., Smith B.J., Gulbis J.M. Domain reorientation and rotation of an intracellular assembly regulate conduction in Kir potassium channels. Cell 2010, 141:1018-1029.
9. Oliver D., Baukrowitz T., Fakler B. Polyamines as gating molecules of inward-rectifier K+ channels. Eur. J. Biochem. 2000, 267:5824-5829.
10. Ruppersberg J.P. Intracellular regulation of inward rectifier K+ channels. Pflugers Arch. 2000, 441:1-11.
11. Rosenhouse-Dantsker A., Leal-Pinto E., Logothetis D.E., Levitan I. Comparative analysis of cholesterol sensitivity of Kir channels: role of the CD loop. Channels (Austin) 2010, 4:63-66.
12. Logothetis D.E., Petrou V.I., Adney S.K., Mahajan R. Channelopathies linked to plasma membrane phosphoinositides. Pflugers Arch. 2010, 460:321-341.
13. Dahlmann A., Li M., Gao Z., McGarrigle D., Sackin H., Palmer L.G. Regulation of Kir channels by intracellular pH and extracellular K(+): mechanisms of coupling. J. Gen. Physiol. 2004, 123:441-454.
14. Singh D.K., Rosenhouse-Dantsker A., Nichols C.G., Enkvetchakul D., Levitan I. Direct regulation of prokaryotic Kir channel by cholesterol. J. Biol. Chem. 2009, 284:30727-30736.
15. Du X., Zhang H., Lopes C., Mirshahi T., Rohacs T., Logothetis D.E. Characteristic interactions with phosphatidylinositol 4,5-bisphosphate determine regulation of kir channels by diverse modulators. J. Biol. Chem. 2004, 279:37271-37281.
16. Cheng W.W., D'Avanzo N., Doyle D.A., Nichols C.G. Dual-mode phospholipid regulation of human inward rectifying potassium channels. Biophys. J. 2011, 100:620-628.
17. Enkvetchakul D., Jeliazkova I., Nichols C.G. Direct modulation of Kir channel gating by membrane phosphatidylinositol 4,5-bisphosphate. J. Biol. Chem. 2005, 280:35785-35788.
18. Kurata H.T., Cheng W.W., Nichols C.G. Polyamine block of inwardly rectifying potassium channels. Methods Mol. Biol. 2011, 720:113-126.
19. Gallazzini M., Karim Z., Bichara M. Regulation of ROMK (Kir 1.1) channel expression in kidney thick ascending limb by hypertonicity: role of TonEBP and MAPK pathways. Nephron Physiol. 2006, 104:126-135.
20. Gallazzini M., Attmane-Elakeb A., Mount D.B., Hebert S.C., Bichara M. Regulation by glucocorticoids and osmolality of expression of ROMK (Kir 1.1), the apical K channel of thick ascending limb. Am. J. Physiol. Renal Physiol. 2003, 284:F977-F986.
21. Karle C.A., Zitron E., Zhang W., Wendt-Nordahl G., Kathofer S., Thomas D., Gut B., Scholz E., Vahl C.F., Katus H.A., Kiehn J. Human cardiac inwardly-rectifying K+ channel Kir(2.1b) is inhibited by direct protein kinase C-dependent regulation in human isolated cardiomyocytes and in an expression system. Circulation 2002, 106:1493-1499.
22. Schulte U., Fakler B. Gating of inward-rectifier K+ channels by intracellular pH. Eur. J. Biochem. 2000, 267:5837-5841.
23. Tateno T., Nakamura N., Hirata Y., Hirose S. Role of C-terminus of Kir7.1 potassium channel in cell-surface expression. Cell Biol. Int. 2006, 30:270-277.
24. Xie L.H., John S.A., Ribalet B., Weiss J.N. Activation of inwardly rectifying potassium (Kir) channels by phosphatidylinosital-4,5-bisphosphate (PIP2): interaction with other regulatory ligands. Prog. Biophys. Mol. Biol. 2007, 94:320-335.
25. Logothetis D.E., Jin T., Lupyan D., Rosenhouse-Dantsker A. Phosphoinositide-mediated gating of inwardly rectifying K(+) channels. Pflugers Arch. 2007, 455:83-95.
26. Logothetis D.E., Lupyan D., Rosenhouse-Dantsker A. Diverse Kir modulators act in close proximity to residues implicated in phosphoinositide binding. J. Physiol. 2007, 582:953-965.
27. Huang C.L., Feng S., Hilgemann D.W. Direct activation of inward rectifier potassium channels by PIP2 and its stabilization by Gbetagamma. Nature 1998, 391:803-806.
28. Stansfeld P.J., Hopkinson R., Ashcroft F.M., Sansom M.S. PIP(2)-binding site in Kir channels: definition by multiscale biomolecular simulations. Biochemistry 2009, 48:10926-10933.
29. D'Avanzo N., Cheng W.W., Doyle D.A., Nichols C.G. Direct and specific activation of human inward rectifier K+ channels by membrane phosphatidylinositol 4,5-bisphosphate. J. Biol. Chem. 2010, 285:37129-37132.
30. Rohacs T., Lopes C.M., Jin T., Ramdya P.P., Molnar Z., Logothetis D.E. Specificity of activation by phosphoinositides determines lipid regulation of Kir channels. Proc. Natl. Acad. Sci. U. S. A. 2003, 100:745-750.
31. Lopes C.M., Zhang H., Rohacs T., Jin T., Yang J., Logothetis D.E. Alterations in conserved Kir channel-PIP2 interactions underlie channelopathies. Neuron 2002, 34:933-944.
32. Yano H., Philipson L.H., Kugler J.L., Tokuyama Y., Davis E.M., Le Beau M.M., Nelson D.J., Bell G.I., Takeda J. Alternative splicing of human inwardly rectifying K+ channel ROMK1 mRNA. Mol. Pharmacol. 1994, 45:854-860.
33. Boim M.A., Ho K., Shuck M.E., Bienkowski M.J., Block J.H., Slightom J.L., Yang Y., Brenner B.M., Hebert S.C. ROMK inwardly rectifying ATP-sensitive K+ channel. II. Cloning and distribution of alternative forms. Am. J. Physiol. 1995, 268:F1132-F1140.
34. Nusing R.M., Pantalone F., Grone H.J., Seyberth H.W., Wegmann M. Expression of the potassium channel ROMK in adult and fetal human kidney. Histochem. Cell Biol. 2005, 123:553-559.
35. Shuck M.E., Piser T.M., Bock J.H., Slightom J.L., Lee K.S., Bienkowski M.J. Cloning and characterization of two K+ inward rectifier (Kir) 1.1 potassium channel homologs from human kidney (Kir1.2 and Kir1.3). J. Biol. Chem. 1997, 272:586-593.
36. Simon D., Karet F., Rodriguez-Soriano J., Hamdan J., DiPietro A., Trachtman H., Sanjad S., Lifton R. Genetic heterogeneity of Bartter's syndrome revealed by mutations in the K+ channel, ROMK. Nat. Genet. 1996, 14:152-156.
37. Peters M., Ermert S., Jeck N., Derst C., Pechmann U., Weber S., Schlingmann K., Seyberth H., Waldegger S., Konrad M. Classification and rescue of ROMK mutations underlying hyperprostaglandin E syndrome/antenatal Bartter syndrome. Kidney Int. 2003, 64:923-932.
38. Dong K., Tang L., MacGregor G.G., Hebert S.C. Localization of the ATP/phosphatidylinositol 4,5 diphosphate-binding site to a 39-amino acid region of the carboxyl terminus of the ATP-regulated K+ channel Kir1.1. J. Biol. Chem. 2002, 277:49366-49373.
39. Raab-Graham K.F., Radeke C.M., Vandenberg C.A. Molecular cloning and expression of a human heart inward rectifier potassium channel. Neuroreport 1994, 5:2501-2505.
40. Donaldson M., Jensen J., Tristani-Firouzi M., Tawil R., Bendahhou S., Suarez W., Cobo A., Poza J., Behr E., Wagstaff J., Szepetowski P., Pereira S., Mozaffar T., Escolar D., Fu Y., Ptácek L. PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome. Neurology 2003, 60:1811-1816.
41. Ma D., Tang X., Rogers T., Welling P. An Andersen-Tawil syndrome mutation in Kir2.1 (V302M) alters the G-loop cytoplasmic K+ conduction pathway. J. Biol. Chem. 2007, 282:5781-5789.
42. Anumonwo J.M., Lopatin A.N. Cardiac strong inward rectifier potassium channels. J. Mol. Cell. Cardiol. 2010, 48:45-54.
43. Ricardo Perez Riera A., Ferreira C., Dubner S.J., Schapachnik E. Andersen syndrome: the newest variant of the hereditary-familial long QT syndrome. Ann. Noninvasive Electrocardiol. 2004, 9:175-179.
44. Donaldson M.R., Yoon G., Fu Y.H., Ptacek L.J. Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. Ann. Med. 2004, 36(Suppl. 1):92-97.
45. Bendahhou S., Donaldson M., Plaster N., Tristani-Firouzi M., Fu Y., Ptácek L. Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome. J. Biol. Chem. 2003, 278:51779-51785.
46. Tristani-Firouzi M., Jensen J.L., Donaldson M.R., Sansone V., Meola G., Hahn A., Bendahhou S., Kwiecinski H., Fidzianska A., Plaster N., Fu Y.H., Ptacek L.J., Tawil R. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J. Clin. Invest. 2002, 110:381-388.
47. Ai T., Fujiwara Y., Tsuji K., Otani H., Nakano S., Kubo Y., Horie M. Novel KCNJ2 mutation in familial periodic paralysis with ventricular dysrhythmia. Circulation 2002, 105:2592-2594.
48. Tristani-Firouzi M., Etheridge S. Kir 2.1 channelopathies: the Andersen-Tawil syndrome. Pflugers Arch. 2010, 460:289-294.
49. Plaster N., Tawil R., Tristani-Firouzi M., Canún S., Bendahhou S., Tsunoda A., Donaldson M., Iannaccone S., Brunt E., Barohn R., Clark J., Deymeer F., George A.J., Fish F., Hahn A., Nitu A., Ozdemir C., Serdaroglu P., Subramony S., Wolfe G., Fu Y., Ptácek L. Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome. Cell 2001, 105:511-519.
50. Schoots O., Voskoglou T., Van Tol H.H. Genomic organization and promoter analysis of the human G-protein-coupled K+ channel Kir3.1 (KCNJ3/HGIRK1). Genomics 1997, 39:279-288.
51. Stoffel M., Espinosa R., Powell K.L., Philipson L.H., Le Beau M.M., Bell G.I. Human G-protein-coupled inwardly rectifying potassium channel (GIRK1) gene (KCNJ3): localization to chromosome 2 and identification of a simple tandem repeat polymorphism. Genomics 1994, 21:254-256.
52. He C., Yan X., Zhang H., Mirshahi T., Jin T., Huang A., Logothetis D.E. Identification of critical residues controlling G protein-gated inwardly rectifying K(+) channel activity through interactions with the beta gamma subunits of G proteins. J. Biol. Chem. 2002, 277:6088-6096.
53. Zylbergold P., Ramakrishnan N., Hebert T. The role of G proteins in assembly and function of Kir3 inwardly rectifying potassium channels. Channels (Austin) 2010, 4:411-421.
54. Jaen C., Doupnik C.A. Neuronal Kir3.1/Kir3.2a channels coupled to serotonin 1A and muscarinic m2 receptors are differentially modulated by the "short" RGS3 isoform. Neuropharmacology 2005, 49:465-476.
55. Zhao Q., Kawano T., Nakata H., Nakajima Y., Nakajima S., Kozasa T. Interaction of G protein beta subunit with inward rectifier K(+) channel Kir3. Mol. Pharmacol. 2003, 64:1085-1091.
56. Bettahi I., Marker C.L., Roman M.I., Wickman K. Contribution of the Kir3.1 subunit to the muscarinic-gated atrial potassium channel IKACh. J. Biol. Chem. 2002, 277:48282-48288.
57. Styer A.M., Mirshahi U.L., Wang C., Girard L., Jin T., Logothetis D.E., Mirshahi T. G protein {beta}{gamma} gating confers volatile anesthetic inhibition to Kir3 channels. J. Biol. Chem. 2010, 285:41290-41299.
58. Kawano T., Zhao P., Floreani C.V., Nakajima Y., Kozasa T., Nakajima S. Interaction of Galphaq and Kir3, G protein-coupled inwardly rectifying potassium channels. Mol. Pharmacol. 2007, 71:1179-1184.
59. Rebois R.V., Robitaille M., Gales C., Dupre D.J., Baragli A., Trieu P., Ethier N., Bouvier M., Hebert T.E. Heterotrimeric G proteins form stable complexes with adenylyl cyclase and Kir3.1 channels in living cells. J. Cell Sci. 2006, 119:2807-2818.
60. Ishihara K., Yamamoto T., Kubo Y. Heteromeric assembly of inward rectifier channel subunit Kir2.1 with Kir3.1 and with Kir3.4. Biochem. Biophys. Res. Commun. 2009, 380:832-837.
61. Yang D., Zhang X., Hughes B.A. Expression of inwardly rectifying potassium channel subunits in native human retinal pigment epithelium. Exp. Eye Res. 2008, 87:176-183.
62. Gaborit N., Le Bouter S., Szuts V., Varro A., Escande D., Nattel S., Demolombe S. Regional and tissue specific transcript signatures of ion channel genes in the non-diseased human heart. J. Physiol. 2007, 582:675-693.
63. Huttmann K., Yilmazer-Hanke D., Seifert G., Schramm J., Pape H.C., Steinhauser C. Molecular and functional properties of neurons in the human lateral amygdala. Mol. Cell. Neurosci. 2006, 31:210-217.
64. Leaney J.L. Contribution of Kir3.1, Kir3.2A and Kir3.2C subunits to native G protein-gated inwardly rectifying potassium currents in cultured hippocampal neurons. Eur. J. Neurosci. 2003, 18:2110-2118.
65. Dobrev D., Friedrich A., Voigt N., Jost N., Wettwer E., Christ T., Knaut M., Ravens U. The G protein-gated potassium current I(K, ACh) is constitutively active in patients with chronic atrial fibrillation. Circulation 2005, 112:3697-3706.
66. Voigt N., Trausch A., Knaut M., Matschke K., Varro A., Van Wagoner D.R., Nattel S., Ravens U., Dobrev D. Left-to-right atrial inward rectifier potassium current gradients in patients with paroxysmal versus chronic atrial fibrillation. Circ. Arrhythm. Electrophysiol. 2010, 3:472-480.
67. Jo H.Y., Kim S.Y., Lee S., Jeong S., Kim S.J., Kang T.M., Lee K.Y. Kir3.1 channel is functionally involved in TLR4-mediated signaling. Biochem. Biophys. Res. Commun. 2011, 407:687-691.
68. Rogalski S.L., Chavkin C. Eicosanoids inhibit the G-protein-gated inwardly rectifying potassium channel (Kir3) at the Na+/PIP2 gating site. J. Biol. Chem. 2001, 276:14855-14860.
69. Ito M., Inanobe A., Horio Y., Hibino H., Isomoto S., Ito H., Mori K., Tonosaki A., Tomoike H., Kurachi Y. Immunolocalization of an inwardly rectifying K+ channel, K(AB)-2 (Kir4.1), in the basolateral membrane of renal distal tubular epithelia. FEBS Lett. 1996, 388:11-15.
70. Takumi T., Ishii T., Horio Y., Morishige K., Takahashi N., Yamada M., Yamashita T., Kiyama H., Sohmiya K., Nakanishi S., et al. A novel ATP-dependent inward rectifier potassium channel expressed predominantly in glial cells. J. Biol. Chem. 1995, 270:16339-16346.
71. Bockenhauer D., Feather S., Stanescu H., Bandulik S., Zdebik A., Reichold M., Tobin J., Lieberer E., Sterner C., Landoure G., Arora R., Sirimanna T., Thompson D., Cross J., van't Hoff W., Al Masri O., Tullus K., Yeung S., Anikster Y., Klootwijk E., Hubank M., Dillon M., Heitzmann D., Arcos-Burgos M., Knepper M., Dobbie A., Gahl W., Warth R., Sheridan E., Kleta R. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N. Engl. J. Med. 2009, 360:1960-1970.
72. Scholl U.I., Choi M., Liu T., Ramaekers V.T., Hausler M.G., Grimmer J., Tobe S.W., Farhi A., Nelson-Williams C., Lifton R.P. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:5842-5847.
73. Reichold M., Zdebik A., Lieberer E., Rapedius M., Schmidt K., Bandulik S., Sterner C., Tegtmeier I., Penton D., Baukrowitz T., Hulton S., Witzgall R., Ben-Zeev B., Howie A., Kleta R., Bockenhauer D., Warth R. KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function. Proc. Natl. Acad. Sci. U. S. A. 2010, 107:14490-14495.
74. Scholl U., Choi M., Liu T., Ramaekers V., Häusler M., Grimmer J., Tobe S., Farhi A., Nelson-Williams C., Lifton R. Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10. Proc. Natl. Acad. Sci. U. S. A. 2009, 106:5842-5847.
75. Sala-Rabanal M., Kucheryavykh L.Y., Skatchkov S.N., Eaton M.J., Nichols C.G. Molecular mechanisms of EAST/SeSAME syndrome mutations in Kir4.1 (KCNJ10). J. Biol. Chem. 2010, 285:36040-36048.
76. Butt A.M., Kalsi A. Inwardly rectifying potassium channels (Kir) in central nervous system glia: a special role for Kir4.1 in glial functions. J. Cell. Mol. Med. 2006, 10:33-44.
77. Higashimori H., Sontheimer H. Role of Kir4.1 channels in growth control of glia. Glia 2007, 55:1668-1679.
78. Rozengurt N., Lopez I., Chiu C.S., Kofuji P., Lester H.A., Neusch C. Time course of inner ear degeneration and deafness in mice lacking the Kir4.1 potassium channel subunit. Hear. Res. 2003, 177:71-80.
79. Kofuji P., Biedermann B., Siddharthan V., Raap M., Iandiev I., Milenkovic I., Thomzig A., Veh R.W., Bringmann A., Reichenbach A. Kir potassium channel subunit expression in retinal glial cells: implications for spatial potassium buffering. Glia 2002, 39:292-303.
80. Thompson D.A., Feather S., Stanescu H.C., Freudenthal B., Zdebik A.A., Warth R., Ognjanovic M., Hulton S.A., Wassmer E., van't Hoff W., Russell-Eggitt I., Dobbie A., Sheridan E., Kleta R., Bockenhauer D. Altered electroretinograms in patients with KCNJ10 mutations and EAST syndrome. J. Physiol. 2011, 589:1681-1689.
81. Rapedius M., Paynter J.J., Fowler P.W., Shang L., Sansom M.S., Tucker S.J., Baukrowitz T. Control of pH and PIP2 gating in heteromeric Kir4.1/Kir5.1 channels by H-bonding at the helix-bundle crossing. Channels (Austin) 2007, 1:327-330.
82. Bockenhauer D., Feather S., Stanescu H.C., Bandulik S., Zdebik A.A., Reichold M., Tobin J., Lieberer E., Sterner C., Landoure G., Arora R., Sirimanna T., Thompson D., Cross J.H., van't Hoff W., Al Masri O., Tullus K., Yeung S., Anikster Y., Klootwijk E., Hubank M., Dillon M.J., Heitzmann D., Arcos-Burgos M., Knepper M.A., Dobbie A., Gahl W.A., Warth R., Sheridan E., Kleta R. Epilepsy, ataxia, sensorineural deafness, tubulopathy, and KCNJ10 mutations. N. Engl. J. Med. 2009, 360:1960-1970.
83. Reichold M., Zdebik A.A., Lieberer E., Rapedius M., Schmidt K., Bandulik S., Sterner C., Tegtmeier I., Penton D., Baukrowitz T., Hulton S.A., Witzgall R., Ben-Zeev B., Howie A.J., Kleta R., Bockenhauer D., Warth R. KCNJ10 gene mutations causing EAST syndrome (epilepsy, ataxia, sensorineural deafness, and tubulopathy) disrupt channel function. Proc. Natl. Acad. Sci. U. S. A. 2010, 107:14490-14495.
84. Williams D.M., Lopes C.M., Rosenhouse-Dantsker A., Connelly H.L., Matavel A., O-Uchi J., McBeath E., Gray D.A. Molecular basis of decreased Kir4.1 function in SeSAME/EAST syndrome. J. Am. Soc. Nephrol. 2010, 21:2117-2129.
85. Paulais M., Lourdel S., Teulon J. Properties of an inwardly rectifying K(+) channel in the basolateral membrane of mouse TAL. Am. J. Physiol. Renal Physiol. 2002, 282:F866-F876.
86. Lourdel S., Paulais M., Cluzeaud F., Bens M., Tanemoto M., Kurachi Y., Vandewalle A., Teulon J. An inward rectifier K(+) channel at the basolateral membrane of the mouse distal convoluted tubule: similarities with Kir4-Kir5.1 heteromeric channels. J. Physiol. 2002, 538:391-404.
87. Lachheb S., Cluzeaud F., Bens M., Genete M., Hibino H., Lourdel S., Kurachi Y., Vandewalle A., Teulon J., Paulais M. Kir4.1/Kir5.1 channel forms the major K+ channel in the basolateral membrane of mouse renal collecting duct principal cells. Am. J. Physiol. Renal Physiol. 2008, 294:F1398-F1407.
88. Lam H.D., Lemay A.M., Briggs M.M., Yung M., Hill C.E. Modulation of Kir4.2 rectification properties and pHi-sensitive run-down by association with Kir5.1. Biochim. Biophys. Acta 2006, 1758:1837-1845.
89. Paulais M., Bloch-Faure M., Picard N., Jacques T., Ramakrishnan S.K., Keck M., Sohet F., Eladari D., Houillier P., Lourdel S., Teulon J., Tucker S.J. Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome. Proc. Natl. Acad. Sci. U. S. A. 2011, 108:10361-10366.
90. Haider S., Antcliff J.F., Proks P., Sansom M.S., Ashcroft F.M. Focus on Kir6.2: a key component of the ATP-sensitive potassium channel. J. Mol. Cell. Cardiol. 2005, 38:927-936.
91. Tarasov A., Dusonchet J., Ashcroft F. Metabolic regulation of the pancreatic beta-cell ATP-sensitive K+ channel: a pas de deux. Diabetes 2004, 53(Suppl. 3):S113-S122.
92. Proks P., Antcliff J., Lippiat J., Gloyn A., Hattersley A., Ashcroft F. Molecular basis of Kir6.2 mutations associated with neonatal diabetes or neonatal diabetes plus neurological features. Proc. Natl. Acad. Sci. U. S. A. 2004, 101:17539-17544.
93. Pinney S., MacMullen C., Becker S., Lin Y., Hanna C., Thornton P., Ganguly A., Shyng S., Stanley C. Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. J. Clin. Invest. 2008, 118:2877-2886.
94. Huopio H., Shyng S., Otonkoski T., Nichols C. K(ATP) channels and insulin secretion disorders. Am. J. Physiol. Endocrinol. Metab. 2002, 283:E207-E216.
95. Winkler M., Lutz R., Russ U., Quast U., Bryan J. Analysis of two KCNJ11 neonatal diabetes mutations, V59G and V59A, and the analogous KCNJ8 I60G substitution: differences between the channel subtypes formed with SUR1. J. Biol. Chem. 2009, 284:6752-6762.
96. Gloyn A., Siddiqui J., Ellard S. Mutations in the genes encoding the pancreatic beta-cell KATP channel subunits Kir6.2 (KCNJ11) and SUR1 (ABCC8) in diabetes mellitus and hyperinsulinism. Hum. Mutat. 2006, 27:220-231.
97. Shimomura K., Hörster F., de Wet H., Flanagan S., Ellard S., Hattersley A., Wolf N., Ashcroft F., Ebinger F. A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain. Neurology 2007, 69:1342-1349.
98. Massa O., Iafusco D., D'Amato E., Gloyn A., Hattersley A., Pasquino B., Tonini G., Dammacco F., Zanette G., Meschi F., Porzio O., Bottazzo G., Crinó A., Lorini R., Cerutti F., Vanelli M., Barbetti F. KCNJ11 activating mutations in Italian patients with permanent neonatal diabetes. Hum. Mutat. 2005, 25:22-27. E.O.D.S.G.o.t.I.S.o.P.E.a. Diabetology.
99. Edghill E., Gloyn A., Gillespie K., Lambert A., Raymond N., Swift P., Ellard S., Gale E., Hattersley A. Activating mutations in the KCNJ11 gene encoding the ATP-sensitive K+ channel subunit Kir6.2 are rare in clinically defined type 1 diabetes diagnosed before 2years. Diabetes 2004, 53:2998-3001.
100. Fan Z., Makielski J.C. Anionic phospholipids activate ATP-sensitive potassium channels. J. Biol. Chem. 1997, 272:5388-5395.
101. John S.A., Weiss J.N., Ribalet B. Regulation of cloned ATP-sensitive K channels by adenine nucleotides and sulfonylureas: interactions between SUR1 and positively charged domains on Kir6.2. J. Gen. Physiol. 2001, 118:391-405.
102. Shyng S.L., Cukras C.A., Harwood J., Nichols C.G. Structural determinants of PIP(2) regulation of inward rectifier K(ATP) channels. J. Gen. Physiol. 2000, 116:599-608.
103. Flanagan S., Patch A., Mackay D., Edghill E., Gloyn A., Robinson D., Shield J., Temple K., Ellard S., Hattersley A. Mutations in ATP-sensitive K+ channel genes cause transient neonatal diabetes and permanent diabetes in childhood or adulthood. Diabetes 2007, 56:1930-1937.
104. Derst C., Doring F., Preisig-Muller R., Daut J., Karschin A., Jeck N., Weber S., Engel H., Grzeschik K.H. Partial gene structure and assignment to chromosome 2q37 of the human inwardly rectifying K+ channel (Kir7.1) gene (KCNJ13). Genomics 1998, 54:560-563.
105. Shimura M., Yuan Y., Chang J.T., Zhang S., Campochiaro P.A., Zack D.J., Hughes B.A. Expression and permeation properties of the K(+) channel Kir7.1 in the retinal pigment epithelium. J. Physiol. 2001, 531:329-346.
106. Doring F., Derst C., Wischmeyer E., Karschin C., Schneggenburger R., Daut J., Karschin A. The epithelial inward rectifier channel Kir7.1 displays unusual K+ permeation properties. J. Neurosci. 1998, 18:8625-8636.
107. Nakamura N., Suzuki Y., Sakuta H., Ookata K., Ka wahara K., Hirose S. Inwardly rectifying K+ channel Kir7.1 is highly expressed in thyroid follicular cells, intestinal epithelial cells and choroid plexus epithelial cells: implication for a functional coupling with Na+, K+-ATPase. Biochem. J. 1999, 342(Pt 2):329-336.
108. Hughes B.A., Takahira M. Inwardly rectifying K+ currents in isolated human retinal pigment epithelial cells. Invest. Ophthalmol. Vis. Sci. 1996, 37:1125-1139.
109. Strauss O. The retinal pigment epithelium in visual function. Physiol. Rev. 2005, 85:845-881.
110. Wimmers S., Karl M.O., Strauss O. Ion channels in the RPE. Prog. Retin. Eye Res. 2007, 26:263-301.
111. Pattnaik B.R., Hughes B.A. Regulation of Kir channels in bovine retinal pigment epithelial cells by phosphatidylinositol 4,5-bisphosphate. Am. J. Physiol. Cell Physiol. 2009, 297:C1001-C1011.
112. Hejtmancik J., Jiao X., Li A., Sergeev Y., Ding X., Sharma A., Chan C., Medina I., Edwards A. Mutations in KCNJ13 cause autosomal-dominant snowflake vitreoretinal degeneration. Am. J. Hum. Genet. 2008, 82:174-180.
113. Jiao X., Ritter R., Hejtmancik J.F., Edwards A.O. Genetic linkage of snowflake vitreoretinal degeneration to chromosome 2q36. Invest. Ophthalmol. Vis. Sci. 2004, 45:4498-4503.
114. Sergouniotis P.I., Davidson A.E., Mackay D.S., Li Z., Yang X., Plagnol V., Moore A.T., Webster A.R. Recessive mutations in KCNJ13, encoding an inwardly rectifying potassium channel subunit, cause leber congenital amaurosis. Am. J. Hum. Genet. 2011, 89:183-190.