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PMID: 20127491 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Review

Transient receptor potential channelopathies.

Pflugers Archiv : European journal of physiology ·Vol. 460 ·No. 2 ·2010-07-00 ·Pages 437-50

Nilius B, Owsianik G

Abstract

In the past years, several hereditary diseases caused by defects in transient receptor potential channels (TRP) genes have been described. This review summarizes our current knowledge about TRP channelopathies and their possible pathomechanisms. Based on available genetic indications, we will also describe several putative pathological conditions in which (mal)function of TRP channels could be anticipated.

MeSH Terms
Animals Channelopathies/genetics,physiopathology Humans TRPC Cation Channels/physiology Transient Receptor Potential Channels/genetics,physiology
Chemicals
TRPC Cation Channels Transient Receptor Potential Channels
Authors & Affiliations
2 authors, click to expand affiliations / ORCID
Nilius Bernd
Laboratory Ion Channel Research, Department of Molecular Cell Biology, KU Leuven, Campus Gasthuisberg, Herestraat 49, bus 802, Leuven, Belgium. Bernd.Nilius@med.kuleuven.be
Owsianik Grzegorz
References (177)
177 references, click to expand
  1. A functional single-nucleotide polymorphism in the TRPC6 gene promoter associated with idiopathic pulmonary arterial hypertension.
    Circulation. 2009 May 5;119(17):2313-22 PMID: 19380626
  2. Formation of novel TRPC channels by complex subunit interactions in embryonic brain.
    J Biol Chem. 2003 Oct 3;278(40):39014-9 PMID: 12857742
  3. The cellular and molecular basis of store-operated calcium entry.
    Nat Cell Biol. 2002 Nov;4(11):E263-72 PMID: 12415286
  4. Unexpected role of TRPC6 channel in familial nephrotic syndrome: does it have clinical implications?
    J Am Soc Nephrol. 2006 Feb;17(2):378-87 PMID: 16396961
  5. Loss of cochlear HCO3- secretion causes deafness via endolymphatic acidification and inhibition of Ca2+ reabsorption in a Pendred syndrome mouse model.
    Am J Physiol Renal Physiol. 2007 May;292(5):F1345-53 PMID: 17299139
  6. Drugs and their molecular targets: an updated overview.
    Fundam Clin Pharmacol. 2008 Feb;22(1):1-18 PMID: 18251718
  7. ALS and PDC of Guam: forty-year follow-up.
    Neurology. 2002 Mar 12;58(5):765-73 PMID: 11889241
  8. TRPM2: a calcium influx pathway regulated by oxidative stress and the novel second messenger ADP-ribose.
    Pflugers Arch. 2005 Oct;451(1):212-9 PMID: 15952035
  9. TRPM6 forms the Mg2+ influx channel involved in intestinal and renal Mg2+ absorption.
    J Biol Chem. 2004 Jan 2;279(1):19-25 PMID: 14576148
  10. Direct activation of human TRPC6 and TRPC3 channels by diacylglycerol.
    Nature. 1999 Jan 21;397(6716):259-63 PMID: 9930701
  11. Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV.
    Biochem Biophys Res Commun. 2004 Oct 1;322(4):1384-91 PMID: 15336987
  12. N-((1S)-1-{[4-((2S)-2-{[(2,4-dichlorophenyl)sulfonyl]amino}-3-hydroxypropanoyl)-1-piperazinyl]carbonyl}-3-methylbutyl)-1-benzothiophene-2-carboxamide (GSK1016790A), a novel and potent transient receptor potential vanilloid 4 channel agonist induces urinary bladder contraction and hyperactivity: Part I.
    J Pharmacol Exp Ther. 2008 Aug;326(2):432-42 PMID: 18499743
  13. Polycystins: polymodal receptor/ion-channel cellular sensors.
    Pflugers Arch. 2005 Oct;451(1):264-76 PMID: 15889307
  14. Novel TRPM6 mutations in 21 families with primary hypomagnesemia and secondary hypocalcemia.
    J Am Soc Nephrol. 2005 Oct;16(10):3061-9 PMID: 16107578
  15. Structure-function relationship of the TRP channel superfamily.
    Rev Physiol Biochem Pharmacol. 2006;156:61-90 PMID: 16634147
  16. Hyperinsulinism and Beckwith-Wiedemann syndrome.
    Arch Dis Child Fetal Neonatal Ed. 2001 Jan;84(1):F67-9 PMID: 11124932
  17. Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).
    Genetics. 2008 Aug;179(4):1861-70 PMID: 18660533
  18. In vivo TRPC functions in the cardiopulmonary vasculature.
    Cell Calcium. 2007 Aug;42(2):233-44 PMID: 17433435
  19. The mammalian melastatin-related transient receptor potential cation channels: an overview.
    Pflugers Arch. 2005 Oct;451(1):204-11 PMID: 15895246
  20. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.
    Hum Mol Genet. 2000 Oct 12;9(17):2471-8 PMID: 11030752
  21. Altered functional properties of a TRPM2 variant in Guamanian ALS and PD.
    Proc Natl Acad Sci U S A. 2008 Nov 18;105(46):18029-34 PMID: 19004782
  22. Mucolipin 1: endocytosis and cation channel--a review.
    Pflugers Arch. 2005 Oct;451(1):313-7 PMID: 15570434
  23. Cellular and molecular function of mucolipins (TRPML) and polycystin 2 (TRPP2).
    Pflugers Arch. 2005 Oct;451(1):277-85 PMID: 15971078
  24. A novel mode of TRPML3 regulation by extracytosolic pH absent in the varitint-waddler phenotype.
    EMBO J. 2008 Apr 23;27(8):1197-205 PMID: 18369318
  25. Isolation of ON bipolar cell genes via hrGFP-coupled cell enrichment using the mGluR6 promoter.
    J Biochem. 2009 Jun;145(6):811-8 PMID: 19270057
  26. Permeation and selectivity of TRP channels.
    Annu Rev Physiol. 2006;68:685-717 PMID: 16460288
  27. Polycystins, calcium signaling, and human diseases.
    Biochem Biophys Res Commun. 2004 Oct 1;322(4):1374-83 PMID: 15336986
  28. The vanilloid receptor TRPV1: 10 years from channel cloning to antagonist proof-of-concept.
    Nat Rev Drug Discov. 2007 May;6(5):357-72 PMID: 17464295
  29. K+ channel expression in human breast cancer cells: involvement in cell cycle regulation and carcinogenesis.
    J Membr Biol. 2008 Jan;221(1):1-6 PMID: 18060344
  30. Polycystic kidney disease: hereditary and acquired.
    Adv Intern Med. 1993;38:409-20 PMID: 8438648
  31. NAADP mobilizes calcium from acidic organelles through two-pore channels.
    Nature. 2009 May 28;459(7246):596-600 PMID: 19387438
  32. Calcium absorption across epithelia.
    Physiol Rev. 2005 Jan;85(1):373-422 PMID: 15618484
  33. Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
    Am J Hum Genet. 2009 Nov;85(5):730-6 PMID: 19896109
  34. Mucolipidosis type IV.
    Mol Genet Metab. 2001 Jul;73(3):197-203 PMID: 11461186
  35. Alpha-kinases: analysis of the family and comparison with conventional protein kinases.
    Prog Biophys Mol Biol. 2004 May;85(1):1-32 PMID: 15050379
  36. Mutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia.
    Nat Genet. 2002 Jun;31(2):171-4 PMID: 12032570
  37. Gain-of-function mutation in TRPML3 causes the mouse Varitint-Waddler phenotype.
    J Biol Chem. 2007 Dec 14;282(50):36138-42 PMID: 17962195
  38. TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells.
    Proc Natl Acad Sci U S A. 2009 Nov 10;106(45):19174-8 PMID: 19861548
  39. TRP channels in disease.
    Subcell Biochem. 2007;45:253-71 PMID: 18193640
  40. The varitint-waddler mouse phenotypes and the TRPML3 ion channel mutation: cause and consequence.
    Pflugers Arch. 2008 Nov;457(2):463-73 PMID: 18504603
  41. TRP channels in hypertension.
    Biochim Biophys Acta. 2007 Aug;1772(8):895-906 PMID: 17399958
  42. A loss-of-function nonsynonymous polymorphism in the osmoregulatory TRPV4 gene is associated with human hyponatremia.
    Proc Natl Acad Sci U S A. 2009 Aug 18;106(33):14034-9 PMID: 19666518
  43. Amyotrophic lateral sclerosis and parkinsonism-dementia complex of Guam: changing incidence rates during the past 60 years.
    Am J Epidemiol. 2003 Jan 15;157(2):149-57 PMID: 12522022
  44. Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
    Nat Genet. 2008 Aug;40(8):999-1003 PMID: 18587396
  45. Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV.
    J Neuropathol Exp Neurol. 2009 Feb;68(2):125-35 PMID: 19151629
  46. Parallel selection on TRPV6 in human populations.
    PLoS One. 2008 Feb 27;3(2):e1686 PMID: 18301763
  47. A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse.
    Proc Natl Acad Sci U S A. 2007 Dec 4;104(49):19583-8 PMID: 18048323
  48. Cardiac defects and renal failure in mice with targeted mutations in Pkd2.
    Nat Genet. 2000 Jan;24(1):75-8 PMID: 10615132
  49. Hypomagnesemia with secondary hypocalcemia is caused by mutations in TRPM6, a new member of the TRPM gene family.
    Nat Genet. 2002 Jun;31(2):166-70 PMID: 12032568
  50. Mutations in Mcoln3 associated with deafness and pigmentation defects in varitint-waddler (Va) mice.
    Proc Natl Acad Sci U S A. 2002 Nov 12;99(23):14994-9 PMID: 12403827
  51. Autosomal dominant polycystic kidney disease: molecular genetics and pathophysiology.
    J Lab Clin Med. 2003 Feb;141(2):91-101 PMID: 12577044
  52. Mutations in TRPV4 cause Charcot-Marie-Tooth disease type 2C.
    Nat Genet. 2010 Feb;42(2):170-4 PMID: 20037586
  53. Physiology and pathophysiology of canonical transient receptor potential channels.
    FASEB J. 2009 Feb;23(2):297-328 PMID: 18940894
  54. An introduction to TRP channels.
    Annu Rev Physiol. 2006;68:619-47 PMID: 16460286
  55. A mutation in the TRPC6 cation channel causes familial focal segmental glomerulosclerosis.
    Science. 2005 Jun 17;308(5729):1801-4 PMID: 15879175
  56. Subunit composition of mammalian transient receptor potential channels in living cells.
    Proc Natl Acad Sci U S A. 2002 May 28;99(11):7461-6 PMID: 12032305
  57. The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1.
    Pflugers Arch. 2009 Nov;459(1):79-91 PMID: 19763610
  58. Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.
    Am J Hum Genet. 2009 Nov;85(5):711-9 PMID: 19878917
  59. TRPM5 is a transient Ca2+-activated cation channel responding to rapid changes in [Ca2+]i.
    Proc Natl Acad Sci U S A. 2003 Dec 9;100(25):15166-71 PMID: 14634208
  60. Identification and characterization of MTR1, a novel gene with homology to melastatin (MLSN1) and the trp gene family located in the BWS-WT2 critical region on chromosome 11p15.5 and showing allele-specific expression.
    Hum Mol Genet. 2000 Jan 22;9(2):203-16 PMID: 10607831
  61. TRPM2 and TRPM7: channel/enzyme fusions to generate novel intracellular sensors.
    Pflugers Arch. 2005 Oct;451(1):220-7 PMID: 16001276
  62. TRP-ML1 is a lysosomal monovalent cation channel that undergoes proteolytic cleavage.
    J Biol Chem. 2005 Dec 30;280(52):43218-23 PMID: 16257972
  63. Overexpression of PKD2 in the mouse is associated with renal tubulopathy.
    Nephrol Dial Transplant. 2008 Apr;23(4):1157-65 PMID: 18048422
  64. Transcriptional regulation of the melanoma prognostic marker melastatin (TRPM1) by MITF in melanocytes and melanoma.
    Cancer Res. 2004 Jan 15;64(2):509-16 PMID: 14744763
  65. Sensing with TRP channels.
    Nat Chem Biol. 2005 Jul;1(2):85-92 PMID: 16408004
  66. Molecular determinants of magnesium homeostasis: insights from human disease.
    J Am Soc Nephrol. 2008 Aug;19(8):1451-8 PMID: 18562569
  67. Triptolide is a traditional Chinese medicine-derived inhibitor of polycystic kidney disease.
    Proc Natl Acad Sci U S A. 2007 Mar 13;104(11):4389-94 PMID: 17360534
  68. TRPV4 channel is involved in the coupling of fluid viscosity changes to epithelial ciliary activity.
    J Cell Biol. 2005 Mar 14;168(6):869-74 PMID: 15753126
  69. Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C.
    Nat Genet. 2010 Feb;42(2):160-4 PMID: 20037588
  70. Transient receptor potential channels as drug targets.
    Expert Opin Ther Targets. 2007 Mar;11(3):391-401 PMID: 17298296
  71. Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.
    Hum Mutat. 2001 May;17(5):397-402 PMID: 11317355
  72. Polycystin-1 and polycystin-2 regulate the cell cycle through the helix-loop-helix inhibitor Id2.
    Nat Cell Biol. 2005 Dec;7(12):1202-12 PMID: 16311606
  73. The pathogenesis of autosomal dominant polycystic kidney disease: an update.
    Curr Opin Nephrol Hypertens. 2000 Jul;9(4):385-94 PMID: 10926175
  74. TRPC1 and TRPC5 form a novel cation channel in mammalian brain.
    Neuron. 2001 Mar;29(3):645-55 PMID: 11301024
  75. TRP channels: functions and involvement in neurologic disease.
    Neurology. 2008 Feb 19;70(8):648-52 PMID: 18285540
  76. Identification and functional analysis of a novel TRPC6 mutation associated with late onset familial focal segmental glomerulosclerosis in Chinese patients.
    Mutat Res. 2009 May 12;664(1-2):84-90 PMID: 19124028
  77. Ion channels: functional expression and therapeutic potential in cancer. Colloquium on Ion Channels and Cancer.
    EMBO Rep. 2008 Jun;9(6):512-5 PMID: 18451877
  78. TRPM2 variants and bipolar disorder risk: confirmation in a family-based association study.
    Bipolar Disord. 2009 Feb;11(1):1-10 PMID: 19133961
  79. Therapeutic scope of modulation of non-voltage-gated cation channels.
    Drug Discov Today. 2005 Jan 15;10(2):129-37 PMID: 15718162
  80. The role of TRPM channels in cell death.
    Pflugers Arch. 2005 Oct;451(1):235-42 PMID: 16025303
  81. TRPC3/6/7: Topical aspects of biophysics and pathophysiology.
    Channels (Austin). 2008 Mar-Apr;2(2):94-9 PMID: 18849655
  82. Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
    Am J Hum Genet. 2009 Mar;84(3):307-15 PMID: 19232556
  83. Channelopathies converge on TRPV4.
    Nat Genet. 2010 Feb;42(2):98-100 PMID: 20104247
  84. Lack of pendrin HCO3- transport elevates vestibular endolymphatic [Ca2+] by inhibition of acid-sensitive TRPV5 and TRPV6 channels.
    Am J Physiol Renal Physiol. 2007 May;292(5):F1314-21 PMID: 17200157
  85. Melastatin expression and prognosis in cutaneous malignant melanoma.
    J Clin Oncol. 2001 Jan 15;19(2):568-76 PMID: 11208852
  86. Isoform-specific inhibition of TRPC4 channel by phosphatidylinositol 4,5-bisphosphate.
    J Biol Chem. 2008 Apr 11;283(15):10026-36 PMID: 18230622
  87. TRP channels: a TR(I)P through a world of multifunctional cation channels.
    Pflugers Arch. 2005 Oct;451(1):1-10 PMID: 16012814
  88. Recent developments in vascular endothelial cell transient receptor potential channels.
    Circ Res. 2005 Oct 28;97(9):853-63 PMID: 16254217
  89. TRP channels entering the structural era.
    J Physiol. 2008 Aug 1;586(15):3565-75 PMID: 18535090
  90. Polycystins: from mechanosensation to gene regulation.
    Cell. 2004 Jul 23;118(2):145-8 PMID: 15260985
  91. Phosphoinositide signalling and cardiac arrhythmias.
    Cardiovasc Res. 2009 May 1;82(2):286-95 PMID: 18940816
  92. TRPML and lysosomal function.
    Biochim Biophys Acta. 2007 Aug;1772(8):851-8 PMID: 17306511
  93. Polycystic kidney disease.
    Annu Rev Med. 2009;60:321-37 PMID: 18947299
  94. Mucolipin 1 channel activity is regulated by protein kinase A-mediated phosphorylation.
    Biochem J. 2008 Mar 1;410(2):417-25 PMID: 17988215
  95. Scapuloperoneal spinal muscular atrophy and CMT2C are allelic disorders caused by alterations in TRPV4.
    Nat Genet. 2010 Feb;42(2):165-9 PMID: 20037587
  96. TRPM7 and TRPM2-Candidate susceptibility genes for Western Pacific ALS and PD?
    Biochim Biophys Acta. 2007 Aug;1772(8):822-35 PMID: 17395433
  97. Selective association of TRPC channel subunits in rat brain synaptosomes.
    J Biol Chem. 2002 Dec 13;277(50):48303-10 PMID: 12377790
  98. TRPC6 is a glomerular slit diaphragm-associated channel required for normal renal function.
    Nat Genet. 2005 Jul;37(7):739-44 PMID: 15924139
  99. A novel TRPC6 mutation that causes childhood FSGS.
    PLoS One. 2009 Nov 10;4(11):e7771 PMID: 19936226
  100. TRP-PLIK, a bifunctional protein with kinase and ion channel activities.
    Science. 2001 Feb 9;291(5506):1043-7 PMID: 11161216
  101. Polycystin-2 is an intracellular calcium release channel.
    Nat Cell Biol. 2002 Mar;4(3):191-7 PMID: 11854751
  102. Regulation of canonical transient receptor potential (TRPC) channel function by diacylglycerol and protein kinase C.
    J Biol Chem. 2003 Aug 1;278(31):29031-40 PMID: 12721302
  103. TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
    Am J Hum Genet. 2009 Nov;85(5):720-9 PMID: 19896113
  104. Polycystins: inhibiting the inhibitors.
    Nat Cell Biol. 2005 Dec;7(12):1164-5 PMID: 16319969
  105. Activating mutations of the TRPML1 channel revealed by proline-scanning mutagenesis.
    J Biol Chem. 2009 Nov 13;284(46):32040-52 PMID: 19638346
  106. TRPC6 - a new podocyte gene involved in focal segmental glomerulosclerosis.
    Trends Mol Med. 2005 Dec;11(12):527-30 PMID: 16290061
  107. Insights into the molecular nature of magnesium homeostasis.
    Am J Physiol Renal Physiol. 2004 Apr;286(4):F599-605 PMID: 15001450
  108. Transient receptor potential cation channels in disease.
    Physiol Rev. 2007 Jan;87(1):165-217 PMID: 17237345
  109. Systemic activation of the transient receptor potential vanilloid subtype 4 channel causes endothelial failure and circulatory collapse: Part 2.
    J Pharmacol Exp Ther. 2008 Aug;326(2):443-52 PMID: 18499744
  110. Role of polycystins in renal tubulogenesis.
    Trends Cell Biol. 2003 Sep;13(9):484-92 PMID: 12946628
  111. Autoantibodies against TRPC3 and ryanodine receptor in myasthenia gravis.
    J Neuroimmunol. 2008 Aug 30;200(1-2):142-4 PMID: 18602703
  112. Chaperone-mediated autophagy is defective in mucolipidosis type IV.
    J Cell Physiol. 2009 May;219(2):344-53 PMID: 19117012
  113. Regulation of the murine TRPP3 channel by voltage, pH, and changes in cell volume.
    Pflugers Arch. 2009 Feb;457(4):795-807 PMID: 18663466
  114. The Ca(2+) channel TRPML3 regulates membrane trafficking and autophagy.
    Traffic. 2009 Aug;10(8):1157-67 PMID: 19522758
  115. Darier's disease: a calcium-signaling perspective.
    Cell Mol Life Sci. 2008 Jan;65(2):205-11 PMID: 18049860
  116. [TRP channels and mechanical stress].
    Clin Calcium. 2008 Sep;18(9):1304-11 PMID: 18758036
  117. Genome-wide high-density SNP-based linkage analysis of infantile hypertrophic pyloric stenosis identifies loci on chromosomes 11q14-q22 and Xq23.
    Am J Hum Genet. 2008 Mar;82(3):756-62 PMID: 18308288
  118. Defective planar cell polarity in polycystic kidney disease.
    Nat Genet. 2006 Jan;38(1):21-3 PMID: 16341222
  119. TRP-ML1 functions as a lysosomal NAADP-sensitive Ca2+ release channel in coronary arterial myocytes.
    J Cell Mol Med. 2009 Sep;13(9B):3174-85 PMID: 18754814
  120. Non-selective cation channel blockers: potential use in nervous system basic research and therapeutics.
    Mini Rev Med Chem. 2008 Jul;8(8):812-9 PMID: 18673137
  121. Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11.
    Am J Pathol. 2001 Jun;158(6):2177-84 PMID: 11395395
  122. Endocytic recycling.
    Nat Rev Mol Cell Biol. 2004 Feb;5(2):121-32 PMID: 15040445
  123. TRPP2 and autosomal dominant polycystic kidney disease.
    Biochim Biophys Acta. 2007 Aug;1772(8):836-50 PMID: 17292589
  124. Mechanosensitive channels in striated muscle and the cardiovascular system: not quite a stretch anymore.
    J Cardiovasc Pharmacol. 2009 Aug;54(2):116-22 PMID: 19597371
  125. The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel.
    Nature. 2008 Oct 16;455(7215):992-6 PMID: 18794901
  126. Inhibition effect of arachidonic acid on hypoxia-induced [Ca(2+)](i) elevation in PC12 cells and human pulmonary artery smooth muscle cells.
    Respir Physiol Neurobiol. 2008 Jun 30;162(1):18-23 PMID: 18455484
  127. Transient receptor potential vanilloid 4 deficiency suppresses unloading-induced bone loss.
    J Cell Physiol. 2008 Jul;216(1):47-53 PMID: 18264976
  128. Regulation of vertebrate cellular Mg2+ homeostasis by TRPM7.
    Cell. 2003 Jul 25;114(2):191-200 PMID: 12887921
  129. The A563T variation of the renal epithelial calcium channel TRPV5 among African Americans enhances calcium influx.
    Am J Physiol Renal Physiol. 2009 May;296(5):F1042-51 PMID: 19261737
  130. TRP-ML1 regulates lysosomal pH and acidic lysosomal lipid hydrolytic activity.
    J Biol Chem. 2006 Mar 17;281(11):7294-301 PMID: 16361256
  131. Determinants of 4 alpha-phorbol sensitivity in transmembrane domains 3 and 4 of the cation channel TRPV4.
    J Biol Chem. 2007 Apr 27;282(17):12796-803 PMID: 17341586
  132. Activating mutation in a mucolipin transient receptor potential channel leads to melanocyte loss in varitint-waddler mice.
    Proc Natl Acad Sci U S A. 2007 Nov 13;104(46):18321-6 PMID: 17989217
  133. Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.
    Hum Mol Genet. 2004 Mar 15;13(6):617-27 PMID: 14749347
  134. TRPMLs: in sickness and in health.
    Am J Physiol Renal Physiol. 2009 Jun;296(6):F1245-54 PMID: 19158345
  135. Abnormal transport along the lysosomal pathway in mucolipidosis, type IV disease.
    Proc Natl Acad Sci U S A. 1998 May 26;95(11):6373-8 PMID: 9600972
  136. Mucolipidosis type IV: the importance of functional lysosomes for efficient autophagy.
    Autophagy. 2008 Aug;4(6):832-4 PMID: 18635948
  137. TRP channels in disease.
    Biochim Biophys Acta. 2007 Aug;1772(8):805-12 PMID: 17368864
  138. A TRPM7 variant shows altered sensitivity to magnesium that may contribute to the pathogenesis of two Guamanian neurodegenerative disorders.
    Proc Natl Acad Sci U S A. 2005 Aug 9;102(32):11510-5 PMID: 16051700
  139. The vanilloid transient receptor potential channel TRPV4: from structure to disease.
    Prog Biophys Mol Biol. 2010 Sep;103(1):2-17 PMID: 19835908
  140. Upregulation of TRPC1 in the development of cardiac hypertrophy.
    J Mol Cell Cardiol. 2007 Mar;42(3):498-507 PMID: 17174323
  141. The varitint-waddler (Va) deafness mutation in TRPML3 generates constitutive, inward rectifying currents and causes cell degeneration.
    Proc Natl Acad Sci U S A. 2008 Jan 8;105(1):353-8 PMID: 18162548
  142. Neurobiology of TRPC2: from gene to behavior.
    Pflugers Arch. 2005 Oct;451(1):61-71 PMID: 15971083
  143. Store-operated Ca2+ channels formed by TRPC1, TRPC6 and Orai1 and non-store-operated channels formed by TRPC3 are involved in the regulation of NADPH oxidase in HL-60 granulocytes.
    Cell Calcium. 2008 Nov;44(5):492-506 PMID: 18436303
  144. Subcellular localization and trafficking of polycystins.
    Pflugers Arch. 2005 Oct;451(1):286-93 PMID: 15895248
  145. Association of the putative susceptibility gene, transient receptor potential protein melastatin type 2, with bipolar disorder.
    Am J Med Genet B Neuropsychiatr Genet. 2006 Jan 5;141B(1):36-43 PMID: 16252251
  146. TRPC6 mutations associated with focal segmental glomerulosclerosis cause constitutive activation of NFAT-dependent transcription.
    Am J Physiol Cell Physiol. 2009 Mar;296(3):C558-69 PMID: 19129465
  147. Functional multimerization of mucolipin channel proteins.
    J Cell Physiol. 2010 Feb;222(2):328-35 PMID: 19885840
  148. The two-pore channel TPCN2 mediates NAADP-dependent Ca(2+)-release from lysosomal stores.
    Pflugers Arch. 2009 Sep;458(5):891-9 PMID: 19557428
  149. Lysosomal localization of TRPML3 depends on TRPML2 and the mucolipidosis-associated protein TRPML1.
    J Biol Chem. 2006 Jun 23;281(25):17517-17527 PMID: 16606612
  150. A point mutation in TRPC3 causes abnormal Purkinje cell development and cerebellar ataxia in moonwalker mice.
    Proc Natl Acad Sci U S A. 2009 Apr 21;106(16):6706-11 PMID: 19351902
  151. Polycystin-2 regulates proliferation and branching morphogenesis in kidney epithelial cells.
    J Biol Chem. 2006 Jan 6;281(1):137-44 PMID: 16278216
  152. Down-regulation of the novel gene melastatin correlates with potential for melanoma metastasis.
    Cancer Res. 1998 Apr 1;58(7):1515-20 PMID: 9537257
  153. Impaired endocytosis of the ion channel TRPM4 is associated with human progressive familial heart block type I.
    J Clin Invest. 2009 Sep;119(9):2737-44 PMID: 19726882
  154. Essential role for TRPM6 in epithelial magnesium transport and body magnesium homeostasis.
    Pflugers Arch. 2005 Oct;451(1):228-34 PMID: 16075242
  155. Cation channels of the transient receptor potential superfamily: their role in physiological and pathophysiological processes of smooth muscle cells.
    Pharmacol Ther. 2006 Dec;112(3):744-60 PMID: 16842858
  156. TRP channels as drug targets.
    Novartis Found Symp. 2004;258:204-13; discussion 213-21, 263-6 PMID: 15104184
  157. TRP channels.
    Annu Rev Biochem. 2007;76:387-417 PMID: 17579562
  158. TRPC6 and FSGS: the latest TRP channelopathy.
    Biochim Biophys Acta. 2007 Aug;1772(8):859-68 PMID: 17459670
  159. The TRPM ion channel subfamily: molecular, biophysical and functional features.
    Trends Pharmacol Sci. 2004 Dec;25(12):633-9 PMID: 15530641
  160. TRPpathies.
    J Physiol. 2007 Feb 1;578(Pt 3):641-53 PMID: 17138610
  161. Vanilloid transient receptor potential cation channels: an overview.
    Curr Pharm Des. 2008;14(1):18-31 PMID: 18220815
  162. Slit or pore? A mutation of the ion channel TRPC6 causes FSGS.
    Nephrol Dial Transplant. 2005 Sep;20(9):1777-9 PMID: 15998650
  163. TRP channels in endothelial function and dysfunction.
    Biochim Biophys Acta. 2007 Aug;1772(8):907-14 PMID: 17434294
  164. The molecular basis of mucolipidosis type IV.
    Curr Mol Med. 2002 Aug;2(5):445-50 PMID: 12125810
  165. The role of transient receptor potential channels in kidney disease.
    Nat Rev Nephrol. 2009 Aug;5(8):441-9 PMID: 19546862
  166. The acid test: the discovery of two-pore channels (TPCs) as NAADP-gated endolysosomal Ca(2+) release channels.
    Pflugers Arch. 2009 Sep;458(5):869-76 PMID: 19475418
  167. Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV.
    Am J Hum Genet. 2000 Nov;67(5):1110-20 PMID: 11013137
  168. A road map for TR(I)Ps.
    Mol Cell. 2006 May 5;22(3):297-307 PMID: 16722014
  169. A pathogenic C terminus-truncated polycystin-2 mutant enhances receptor-activated Ca2+ entry via association with TRPC3 and TRPC7.
    J Biol Chem. 2009 Dec 4;284(49):34400-12 PMID: 19812035
  170. Gain-of-function haplotype in the epithelial calcium channel TRPV6 is a risk factor for renal calcium stone formation.
    Hum Mol Genet. 2008 Jun 1;17(11):1613-8 PMID: 18276610
  171. TRPP2 and TRPV4 form a polymodal sensory channel complex.
    J Cell Biol. 2008 Aug 11;182(3):437-47 PMID: 18695040
  172. Know thy neighbor: a survey of diseases and complex syndromes that map to chromosomal regions encoding TRP channels.
    Handb Exp Pharmacol. 2007;(179):379-408 PMID: 17225326
  173. A possible vulnerability locus for bipolar affective disorder on chromosome 21q22.3.
    Nat Genet. 1994 Nov;8(3):291-6 PMID: 7874172
  174. A follow-up linkage study supports evidence for a bipolar affective disorder locus on chromosome 21q22.
    Am J Med Genet. 2001 Mar 8;105(2):189-94 PMID: 11304836
  175. Membrane dynamics and the biogenesis of lysosomes.
    Mol Membr Biol. 2003 Apr-Jun;20(2):141-54 PMID: 12851071
  176. TRP channels: an overview.
    Cell Calcium. 2005 Sep-Oct;38(3-4):233-52 PMID: 16098585
  177. Hypomagnesemia with secondary hypocalcemia due to a missense mutation in the putative pore-forming region of TRPM6.
    J Biol Chem. 2007 Mar 9;282(10):7656-67 PMID: 17197439
Article Info
Journal
Pflugers Archiv : European journal of physiology
Abbr.
Pflugers Arch
ISSN
1432-2013
DOI
10.1007/s00424-010-0788-2
Email
bernd.nilius@med.kuleuven.be
Published
2010-07-00
Epub
2010-00-04
Pages
437-50
Language
English
Region
Germany
NLM ID
0154720
Subset
IM
External Links
PubMed source DOI: 10.1007/s00424-010-0788-2 View journal details
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