Molecular Pathology of the Nicotinic Acetylcholine Receptor

  • Francisco J. Barrantes
Part of the Biotechnology Intelligence Unit book series (BIUN)


Ion channels and receptors play a central role in a variety of cell functions. Accordingly, they can be affected by a variety of pathological conditions leading to abnormal cell function, either through an inherited condition or in an acquired form. The nicotinic acetylcholine receptor (AChR) is no exception, and is known to be the target of several inherited and acquired diseases.


Acetylcholine Receptor Nicotinic Acetylcholine Receptor Molecular Pathology Congenital Myasthenic Syndrome Nicotinic AChRs 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.


  1. 1.
    Bryant SH. Ion channels as targets for genetic disease. In: Sperelakis N, ed. Cell Physiology Source Book. Academic Press, San Diego, 1995:413–427.Google Scholar
  2. 2.
    Rojas CV. Ion channels and human genetic diseases. News Physiol Sci 1996; 11:36–42.Google Scholar
  3. 3.
    Conti-Fine BM, Protti MP, Bellone M, Howard JF. Myasthenia Gravis: The Immunobiology of an Autoimmune Disease. Neuroscience Intelligence Unit, Georgetown, TX: Landes Bioscience, 1997:230.Google Scholar
  4. 4.
    Lindstrom J. Neuronal nicotinic acetylcholine receptors. In: Narahashi T, ed. Ion Channels, vol. 4, Plenum Press, New York, 1996:377–450.Google Scholar
  5. 5.
    Barrantes FJ. The acetylcholine receptor ligand-gated channel as a molecular target of disease and therapeutic agents. Neurochem Res 1997; 22:391–400.PubMedGoogle Scholar
  6. 6.
    Vincent A, Newland C, Croxen R, Beeson D. Genes at the junction-candidates for congenital myasthenic syndromes. Trends in Neurosci 1997; 20:15–22.Google Scholar
  7. 7.
    Milone M, Wang H-L, Ohno K, Fukudome T et al. Slow channel maysthenic syndrome caused by enhanced activation, desensitization, and agonist binding affinity due to mutation in the M2 domain of the acetylcholine receptor α subunit. J Neurose 1997; in press.Google Scholar
  8. 8.
    Croxen, R, Newland C, Beeson D et al. Mutations in different functional domains of the human muscle acetylcholine receptor α-subunit in patients with the slow-channel congenital myasthenie syndrome. Human Molec Gen 1997; 61 767–774.Google Scholar
  9. 9.
    Maslinski W, Laskowska-Bozek H, Ryzewski J. Nicotinic receptors of rat lymphocytes during adjuvant polyarthritis. J Neurosci Res 1992; 31:336–340.PubMedGoogle Scholar
  10. 10.
    Maneckjee R, Minna JD. Opiod and nicotine receptors affect growth regulation of human lung cancer cell lines. Proc Natl Acad Sci USA 1990; 87:3294–3298.PubMedCentralPubMedGoogle Scholar
  11. 11.
    Beroukhim R, Unwin N. Three-dimensional location of the main immunogenic region of the acetylcholine receptor. Neuron 1995; 15:323–331.PubMedGoogle Scholar
  12. 12.
    Davis MM, Bjorkman PJ. T cell antigen receptor cells and T cell recognition. Nature 1988; 334:395–402.PubMedGoogle Scholar
  13. 13.
    Lindstrom J, Shelton F, Fuji Y. Myasthenia gravis. Adv Immunol 1988; 42:233–284.PubMedGoogle Scholar
  14. 14.
    Manfredi AA, Bellone M, Protti MP et al. Molecular mimicry among human autoantigens. Immunol Today 1991; 12:46–47.PubMedGoogle Scholar
  15. 15.
    Engel AG. Myasthenia gravis and myasthenic syndromes. Ann Neurol 1984; 16:519.PubMedGoogle Scholar
  16. 16.
    Vincent A, Newsom-Davis J, Wray D et al. Clinical and experimental observations in patients with congenital myasthenie syndromes. In: Penn AS, Richman DP, Ruff RL, Lennon VA, eds. Myasthenia gravis and related disorders: Experimental and clinical aspects. Ann New York Acad Sci, 1993; 681:451–460.Google Scholar
  17. 17.
    Vincent A, Newsom-Davis J. Acetylcholine receptor antibody as a diagnostic test for myasthenia gravis: 153 validated cases and 2967 diagnostic assays. J Neurol Neurosurg Psychiatry 1985; 47:1246–1252.Google Scholar
  18. 18.
    Penn AS, Richman DP, Ruff RL, Lennon V, eds. Myasthenia gravis and related disorders. Ann N Y Acad Sci, 1993:681.Google Scholar
  19. 19.
    Conti-Tronconi BM, McLane KE, Raftery MA et al. The nicotinic acetylcholine receptor: Structure and autoimmune pathology. Crit Rev Biochem Mol Biol 1994; 29:69–123.PubMedGoogle Scholar
  20. 20.
    Okumura S, Mclntosh K, Drachman DB. Oral administration of acetylcholine receptor: effects on experimental myasthenia gravis. Annals of Neurol 1994; 36:704–713.Google Scholar
  21. 21.
    Berta E, Confalonieri P, Simoncini O et al. Removal of anti-acetylcholine receptor antibodies by protein A-immunoadsorption in myasthenia gravis. Internat J Artif Organs 1994; 17:603–608.Google Scholar
  22. 22.
    Araga S, LeBoeuf RD, Blalock JE. Prevention of experimental autoimmune myasthenia gravis by manipulation of the immune network with a complementary peptide for the acetylcholine receptor. Proc Natl Acad Sci USA 1993; 90:8747–8751.PubMedCentralPubMedGoogle Scholar
  23. 23.
    Leigh R, Zee D. The Neurology of Eye Movements. Philadelphia: F. A. Davis, 1983.Google Scholar
  24. 24.
    Salpeter MM. Vertebrate neuromuscular junctions: general morphology, molecular organization, and functional consequences. In: Salpeter MM, ed. The Vertebrate Neuromuscular Junction. New York: Alan R. Liss, 1987:1–54.Google Scholar
  25. 25.
    Kaminski HJ, Maas E, Spiegel P et al. Why are eye muscles frequently involved in myasthenia gravis? Neurology 1990; 40:1663–1669.PubMedGoogle Scholar
  26. 26.
    Schuetze S, Role L. Developmental regulation of nicotinic acetylcholine receptors. Annu Rev Neurosci 1987; 10:403–457.PubMedGoogle Scholar
  27. 27.
    Horton RM, Manfredi AA, Conti-Tronconi BM. The ‘embryonic’ gamma subunit of the nicotinic acetylcholine receptor is expressed in adult extraocular muscle. Neurology 1993; 43:983–986.PubMedGoogle Scholar
  28. 28.
    Kaminski HJ, Kusner LL, Nash KV et al. The ʳ-subunit of the acetylcholine receptor is not expressed in the levator palpebrae superioris. Neurology 1995; 45:516–518.PubMedGoogle Scholar
  29. 29.
    Bouzat CB, Barrantes FJ. Hydrocortisone and 11-desoxycortisone modify acetylcholine receptor channel gating. NeuroReport 1993a; 4:143–146.PubMedGoogle Scholar
  30. 30.
    Bouzat CB, Barrantes FJ. Acute exposure of nicotinic acetylcholine receptor to the synthetic glucocorticoid dexamethasone alters singlechannel gating properties. Molec Neuropharm 1993b; 3:109–116.Google Scholar
  31. 31.
    Bouzat CB, Barrantes FJ. Modulation of muscle nicotinic acetylcholine receptors by the glucocorticoid hydrocortisone. Possible allosteric mechanism of channel blockade. J Biol Chem 1996; 271:25835–25841.PubMedGoogle Scholar
  32. 32.
    Sine SM, Ohno K, Bouzat C et al. Mutation of the acetylcholine receptor α subunit causes a slow-channel myasthenic syndrome by enhancing agonist affinity. Neuron 1995; 15:229–239.PubMedGoogle Scholar
  33. 33.
    Newland C, Croxen R, Beeson A et al. Mutation in the human muscle ACh receptor in congenital myasthenia prolong receptor activation. J Physiol 1996; 49 579.Google Scholar
  34. 34.
    Engel AG, Ohno K, Milone M et al. New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome. Human Mol Genetics 1996; 5:1217–1227.Google Scholar
  35. 35.
    Gomez CM, Maselli R, Gammack JT et al. A beta-subunit mutation in the acetylcholine-receptor channel gate causes severe slow-channel syndrome. Ann Neurol 1996b; 39:712–723.PubMedGoogle Scholar
  36. 36.
    Gomez, CM, and Gammack, JT. A leucine-to-phenylalanine substitution in the acetylcholine-receptor ion-channel in a family with the slow-channel syndrome. Neurology 1995; 45:982–985.PubMedGoogle Scholar
  37. 37.
    Ohno K, Hutchinson DO, Milone M et al. Congenital myasthenic syndrome caused by acetylcholine receptor channel openings due to a mutation in the M2 domain of the E subunit. Proc Natl Acad Sci USA 1995; 92:758–762.PubMedCentralPubMedGoogle Scholar
  38. 38.
    Ohno K, Wang H-L, Milone M et al. Congenital myasthenic syndrome caused by decreased agonist binding affinity due to a mutation in the acetylcholine receptor E subunit. Neuron 1996; 17:157–170.PubMedGoogle Scholar
  39. 39.
    Engel AG, Ohno K, Bouzat C et al. End-plate acetylcholine receptor deficiency due to nonsense mutations in the E subunit. Ann Neurol 1996b; 40:810–817.PubMedGoogle Scholar
  40. 40.
    Steinlein O, Mulley JC, Proping P et al. A missense mutation in the neuronal acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genetics 1995; 11:201–203.PubMedGoogle Scholar
  41. 41.
    Weiland S, Witzemann V, Villarroel A et al. An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. FEBS Lett 1996; 398:91–96.PubMedGoogle Scholar
  42. 42.
    Figl A, Viseshakul N, Forsayeth J et al. A mutation associated with epilepsy enhances desensitization of the α4β2 neuronal nicotinic receptor. Biophys J 1997; 72:A150.Google Scholar
  43. 43.
    Beck C, Moulard B, Steinlein O et al. A nonsense mutation in the α4 subunit of the nicotinic acetylcholine receptor (014) cosegregates with 2oq-linked benign familial neonatal convulsions (EBN1). Neurobiol Dis 1994; 1:95–99.PubMedGoogle Scholar
  44. 44.
    Schubert S, Laconne F, Lefterov I et al. Towards positional cloning of the locus for benign neonatal epilepsy (EBN1) on chromosome 20. Am J Hum Genet 1994; 55 [Suppl. 3] A270.Google Scholar
  45. 45.
    Uchitel O, Engel AG, Walls TG et al. Congenital myasthenic syndromes. II. Syndrome attributed to abnormal interaction of acetylcholine with its receptor. Muscle Nerve 1993; 16:1293–1301.PubMedGoogle Scholar
  46. 46.
    Engel AG, Hutchinson DO, Nakano S et al. Myasthenic syndromes attributed to mutations affecting the epsilon subunit of the acetylcholine receptor. Ann NY Acad Sci 1993; 681:496–508.PubMedGoogle Scholar
  47. 47.
    Ohno K, Quiram P, Milone M et al. Congenital myasthenic syndromes due to heteroallelic nonsense/missense mutations in the acetylcholine receptor E subunit gene: Identification and functional characterization of six new mutations. Human Molec Gen 1997; 6:753–766.Google Scholar
  48. 48.
    Wang, H-L, Auerbach A, Bren N et al. Mutation in the M1 domain of the acetylcholine receptor α subunit decreases the rate of agonist dissociation. J Gen Physiol 1997; in press.Google Scholar
  49. 49.
    Unwin N. Nicotinic acetylcholine receptor at 9 Å resolution. J Mol Biol 1993; 229:1101–1124.PubMedGoogle Scholar
  50. 50.
    Gomez CM, Bhattacharyya BB, Charnet P et al. Transgenic mouse model of the slow-shannel syndrome. Muscle and Nerve 1996a; 19:79–87.PubMedGoogle Scholar
  51. 51.
    Treinin M, Chalfie M. A mutated acetylcholine receptor subunit causes neuronal degeneration in C. elegans. Neuron 1995; 14:871–877.Google Scholar
  52. 52.
    Flynn D, Mash D. Characterization of 1-[3H]nicotine binding in human cerebral cortex: Comparison between Alzheimer’s disease and the normal. J Neurochem 1986; 47:1948–1954.PubMedGoogle Scholar
  53. 53.
    Giacobini E. Cholinergic receptors in human brain: Effects of aging and Alzheimer’s disease. J Neurosci Res 1990; 27:548–560.PubMedGoogle Scholar
  54. 54.
    Aubert I, Araujo DM, Cécyre D et al. Comparatve alterations of nicotine and muscarinic binding sites in Alzheimer’s and Parkinson’s diseases. J Neurochem 1992; 58:529–541.PubMedGoogle Scholar
  55. 55.
    Warpman U, Nordberg A. Epibantidine and ABT 418 reveal selective losses of α4β2 nicotinic receptors in Alzheimer brains. NeuroReport 1995; 6:2419–2423.PubMedGoogle Scholar
  56. 56.
    Mann DMA. Sense and Senility: The Neuropathy of the Aged Human Brain. Neuroscience Intelligence Unit, Georgetown, TX: Austin, 1997:198.Google Scholar
  57. 57.
    Drachman D. Memory and cognitive function in man: Does the cholinergic system have a specific role? Neurology 1977; 27:783–790.PubMedGoogle Scholar
  58. 58.
    Bartus RT, Dean RD, Beer B. The cholinergic hypothesis of geriatric memory dysfunction. Science 1982; 217:408–414.PubMedGoogle Scholar
  59. 59.
    Court JA, Piggott MA, Perry EK et al. Age associated decline in highaffinity nicotine binding in human brain frontal-cortex does not correlate with the change in choline-acetyltransferase activity. Neurosci Res Commun 1992; 10:125–133.Google Scholar
  60. 60.
    London ED, Ball MJ, Waller SB. Nicotinic binding sites in cerebral cortex and hyppocampus in Alzheimer’s disease. Neurochem Res 1992:14:745–750.Google Scholar
  61. 61.
    Perry EK, Morris CM, Court JA et al. Alteration in nicotine binding sites in Parkinson’s disease, Lewy body dementia and Alzheimer’s disease: possible index of early pathology. Neuroscience 1995; 64:385–395.PubMedGoogle Scholar
  62. 62.
    Nelson JM, Goldstein L. Improvement of performance on an attention task with chronic nicotine treatment in rats. Psychopharmacologia 1982; 26:347–360.Google Scholar
  63. 63.
    Newhouse PA, Potter A, Corwin JR et al. Acute nicotinic blockade produces cognitive impairment in normal humans. Psychopharmacology 1992; 108:480–484.PubMedGoogle Scholar
  64. 64.
    Newhouse PA, Potter A, Corwin J et al. Age-related effects of the nicotinic antagonist mecamylamine on cognition and behavior. Neuropsychopharmacology 1994; 10:93–107.PubMedGoogle Scholar
  65. 65.
    Newhouse PA, Potter A, Corwin J. Effects of nicotinic cholinergic agents on cognitive functioning in Alzheimer’s and Parkinson’s disease. Drug Devel Res 1996; 38:278–289.Google Scholar
  66. 66.
    Maelicke A, Albuquerque EX. Drug Discovery Today 1996; 1:53–59.Google Scholar
  67. 67.
    Jones GMM, Sahakian BJ, Levy R et al. Effects of acute subcutaneous nicotine on attention, information processing and short-term memory in Alzheimer’s disease. Psychopharmacology 1992; 108:448–451.Google Scholar
  68. 68.
    Piccioto MR, Zoll M, Léna C et al. Abnormal avoidance learning in mice lacking functinal high-affinity nicotine receptor in the brain. Nature 1995; 374:65–67.Google Scholar
  69. 69.
    Adem A, Norberg A, Bucht G et al. Extraneural cholinergic markers in Alzheimer’s and Parkinson’s disease. Biol Psychiatry 1986; 10:247–257.Google Scholar
  70. 70.
    Fleming L, Mann JB, Bean J et al. Parkinson’s disease and brain levels of organochlorine pesticides. Ann Neurol 1994; 36:100–103.PubMedGoogle Scholar
  71. 71.
    Goff WR, Henderson DC, Amico E. Cigarette smoking in schizophrenia: Relationship to psychopathology and medication side effects. Am J Psychiatry 1992; 149:1189–1194.PubMedGoogle Scholar
  72. 72.
    Freedman R, Hall M, Adler LE et al. Evidence in postmortem brain tissue for decreased numbers of hippocampal nicotinic receptors in schizophrenia. Biol Psychiatry 1995; 38:22–33.PubMedGoogle Scholar
  73. 73.
    Goff WR, Williamson PD, VanGilder JC et al. Neural origins of long latency evoked potentials recorded from the depth and from the cortical surface of the brain in man. Progr Clin Neurophysiol 1980; 7:126–145.Google Scholar
  74. 74.
    Luntz-Leybman V, Bickford P, Freedman R. Cholinergic gating of response to autidory stimuli in rat hippocampus. Brain Res 1992; 587:130–136.PubMedGoogle Scholar
  75. 75.
    Adler LE, Hoffer LJ, Griffith J et al. Normalization by nicotine of deficient auditory sensory gating in the relatives of schizophrenics. Biol Psychiatry 1992; 32:607–616.PubMedGoogle Scholar
  76. 76.
    Adler LE, Hoffer LJ, Wiser A et al. Cigarette smoking normalizes auditory physiology in schizophrenics. Am J Psychiatry 1993; 150:1856–1861.PubMedGoogle Scholar
  77. 77.
    Klein C, Andersen B. On the influence of smoking upon smooth pursuit eye movements of schizophrenics and normal controls. J Psychophysiol 1991; 5:361–369.Google Scholar
  78. 78.
    Decker MW, Brioni JD, Bannon AW et al. Diversity of neuronal nicotinic acetylcholine receptors: Lessons from behavior and implications for CNS therapeutics. Life Sci 1995; 56:545–570.PubMedGoogle Scholar
  79. 79.
    Fletcher CF, Lutz CM, O’Sullivan TN et al. Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 1996; 87:607–617.PubMedGoogle Scholar
  80. 80.
    Phillips HA, Scheffer IE, Berkovic, SF et al. Localization of a gene for autosomal dominant nocturnal front lobe epilepsy to chromosome 20q13.2. Nature Genet 1995; 10:117–118.PubMedGoogle Scholar
  81. 81.
    Steinlein O, Smigrodzki R, Lindstrom J et al. Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3. Genomics 1994; 22:493–495.PubMedGoogle Scholar
  82. 82.
    Orteils MO, Lunt GG. Evolutionary history of the ligand gated ion channel superfamily. Trends in Neurosci 1995; 18:121–127.Google Scholar
  83. 83.
    Bertrand D, Galzi J-L, Devillers-Thiéry A et al. Stratification of the channel domain in neurotransmitter receptors. Curr Opin Cell Biol 1993; 5:688–693.PubMedGoogle Scholar
  84. 84.
    Steriade M, McCormick DA, Sejnowski TJ. Thalamocortical oscillations in the sleeping and aroused brain. Science 1993; 262:679–685.PubMedGoogle Scholar
  85. 85.
    Kim CS, Arnold FJ, Itani MS et al. Decreased sensitivity to metocurine during long-term phenytoin therapy may be attributable to protein binding and acetylcholine receptor changes. Anesthesiology 1993; 77:500–506.Google Scholar
  86. 86.
    Melton AG, Antognini JF, Gronert GA. Prolonged duration of succinylcholine in patients receiving anticonvulsants: evidence for mild upregulation of acetylcholine receptors? Can J Anaesth 1993; 40:939–942.PubMedGoogle Scholar
  87. 87.
    Scheffer IE, Hopkins IJ, Harvey AS et al. New autosomal dominant partial epilepsy syndrome. Ped Neurol 1994; 11:95.Google Scholar
  88. 88.
    Leppert M, Anderson VE, Quattlebaum T et al. Benign familial neonatal convulsions linked to genetic markers on chromosome 20. Nature 1989; 337:647–648.PubMedGoogle Scholar
  89. 89.
    Malafosse A, Leboyer M, Dulac O, Navalet Y, Plouin P, Beck C, Laklou H, Mouchnino G, Grandscene P, Valee L et al. Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20. Hum Genet 1992; 89:54–58.PubMedGoogle Scholar
  90. 90.
    Steinlein O, Anokhin A, Yping M et al. Localization of a gene for a human low-voltage EEG on 2oq and genetic heterogeneity. Genomics 1992; 12:69–73.PubMedGoogle Scholar
  91. 91.
    Silver AA, Sandberg PR. Transdermal nicotine patch and potentiation of haloperidol in Tourette’s syndrome. Lancet 1993; 342:182.PubMedGoogle Scholar
  92. 92.
    Sandberg PR. Beneficial effects of nicotine in Tourette’s syndrome. International Symposium on Nicotine: The Effects of Nicotine on Biological Systems; 1994:11–839.Google Scholar
  93. 93.
    Silver AA, Shytle R, Philipp M et al. Transdermal nicotine in Tourette’s syndrome. In: Clarke PBS, Quik M, Adlkofer F and Thurau K, eds. Effects of nicotine on biological systems II. Basel: Birkhäuser Verlag, 1995:293–299.Google Scholar
  94. 94.
    Arneric SP, William M. Neuronal nicotinic acetylcholine receptors: novel targets for CNS therapeutics. In: Psychopharmacology: The Fourth Generation of Progress. New York: Raven Press, 1995: 1001–1016.Google Scholar
  95. 95.
    Gonzalez AM, Pazos A. Modification of muscarinic acetylcholine receptors in the rat brain following chronic immobilization stress: An autoradiographic study. Eur J Pharmacol 1992; 223:25–31.PubMedGoogle Scholar
  96. 96.
    Takita M, Kigoshi S, Muramatsu I. Effects of bevantonol and hydrochloride on immobilization stress-induced hypertension and central β-adrenoceptors in rats. Pharmacol Biochem Behav 1993; 45:623–627.PubMedGoogle Scholar
  97. 97.
    Takita M, Muramatsu I. Alteration of brain nicotinic receptors induced by immobilization stress and nicotine in rats. Brain Res 1995; 681:190–192.PubMedGoogle Scholar
  98. 98.
    Lewis JA, Wu C-H, Levine JH et al. Levamisole-resistant mutants of the nematode Caenorhabditis elegans appear to lack pharmacological acetylcholine receptors. Neuroscience 1980; 5:967–989.PubMedGoogle Scholar
  99. 99.
    Harrow ID, Gration KAF. Mode of action of the antihelmintics morantel, pyrantel, and levamisole on muscle cell membrane of the nematode Ascaris suum. Pestic Sci 1985; 16:662–675.Google Scholar
  100. 100.
    Ajuh PM, Egwang TH. Cloning of cDNA encoding a putative nicotinic acetylcholine receptor subunit of the human filarial parasite Onchocerca volvulus. Gene 1994; 144:127–129.PubMedGoogle Scholar
  101. 101.
    Brooks HL, Foreman RC, Burke JF et al. Cloning and alpha-like nicotinic acetylcholine receptor subunit from the parasitic nematode Ascaris suum. Soc Neurosci 1996: Abstr. 501.10.Google Scholar
  102. 102.
    Gronert GA, Theye RA. Pathophysiology of hyperkalemia induced by succinylcholine. Anesthesiology 1975; 43:89–99.PubMedGoogle Scholar
  103. 103.
    Ward JM, Rosen KM, Martyn JAJ. Acetylcholine receptor subunit mRNA changes in burns are different to that seen after denervation. J Burn Care Rehab 1993; 14:595–601.Google Scholar
  104. 104.
    Noakes PG, Gautam M, Mudd J et al. Aberrant differentiation of neuromuscular junctions in mice lacking s-laminin/laminin β2. Nature 1995; 374:258–262.PubMedGoogle Scholar
  105. 105.
    Gautam, M, Noakes PG, Mudd J et al. Failure of postsynaptic specialization to develop at neuromuscular junction of rapsyn-deficient mice. Nature 1995; 377:232–236.PubMedGoogle Scholar
  106. 106.
    Gerhold D, Caskey CT. It’s the genes! EST access to human genome content. BioEssays 1996; 18:973–981.PubMedGoogle Scholar
  107. 107.
    Chung WK, Kehoe LP, Chua M et al. Mapping of the Ob receptor to 1p in a region of nonconserved gene order from mouse and rat to human. Genome Res 1996; 6:431–438.PubMedGoogle Scholar
  108. 108.
    Sands A, Donehower LA, Bradley LA. Gene-targeting and the p53 tumor-suppressor gene. Mutation Res 1994; 307:557–572.PubMedGoogle Scholar
  109. 109.
    Erickson RP. Mouse models of human genetic disease: which mouse is more like human? BioEssays 1996; 18:993–998.PubMedGoogle Scholar
  110. 110.
    Games D, Adams D, Alessandrini R et al. Alzheimer-type neuropathology in transgenic mice overexpressing V717F β-amyloid precursor protein. Nature 1995; 373:523–527.PubMedGoogle Scholar
  111. 111.
    Banfi S, Borsani G, Rossi E et al. Identification and mapping of human cDNAs homologous to Drosophila mutant genes through EST database searching. Nature Genetics 1996; 13:167–174.PubMedGoogle Scholar
  112. 112.
    Hartl DL. The most unkindest cut of all. Nature Genetics 1996; 12:227–229.PubMedGoogle Scholar
  113. 113.
    Barrantes FJ. The lipid annulus of the nicotinic acetylcholine receptor as a locus of structural-functional interactions. In: Watts A, ed. Protein-Lipid Interactions. New Comprehensive Biochemistry. Amsterdam: Elsevier, 1993:231–257.Google Scholar
  114. 114.
    Barrantes FJ. Pharmacological sites for some local anesthetic and steroid ligands at the nicotinic acetylcholine receptor-lipid interface. Proc 24th Central European Congress on Anesthesiology. Vienna, Austria. Monduzzi Editore S.p., Bologna, Italia, 1995:487–492.Google Scholar

Copyright information

© Springer-Verlag Berlin Heidelberg 1998

Authors and Affiliations

  • Francisco J. Barrantes

There are no affiliations available

Personalised recommendations