A candidate mouse model for Hartnup Disorder deficient in neutral amino acid transport

Mammalian Genome

Volumn 8, Issue 2, 1997, Pages 102-107

  Symula, D J ^a,b,d   Shedlovsky, A ^a   Guillery, E N ^c   Dove, W F ^a,b  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b UNIVERSITY OF WISCONSIN MADISON   (United States)

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

^d LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PHENYLALANINE;

ANIMAL; ARTICLE; DISEASE MODEL; GENETICS; GLUCOSE BLOOD LEVEL; GLUCOSURIA; HARTNUP DISEASE; HUMAN; KIDNEY; METABOLISM; MOUSE; TRANSPORT AT THE CELLULAR LEVEL;

ANIMALS; BIOLOGICAL TRANSPORT; BLOOD GLUCOSE; DISEASE MODELS, ANIMAL; GLYCOSURIA; HARTNUP DISEASE; HUMANS; KIDNEY; MICE; PHENYLALANINE;

ANIMALIA; RODENTIA;

EID: 0031063185     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003359900367     Document Type: Article

References (48)

1. + gradient-dependent transport of b-glucose in renal brush border membranes. J Biol Chem 250, 6032-6039
2. Asatoor AM, Craske J, London DR, Milne MD (1963) Indole production in Hartnup Disorder. Lancet 1, 126
3. Baron DN, Dent CE, Haris H, Hart EW, Jepson JB (1956) Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal aminoaciduria, and other bizarre biochemical features. Lancet 2, 421-428
4. Bergeron M, Gougoux A (1989) The renal Fanconi syndrome. In The Metabolic Basis of Inherited Disease. CR Scriver. AL Beaudet, WS Sly, D Valle, des. (New York: McGraw-Hill) pp. 2569-2580
5. Chesney, R (1995) Iminoglycinuria, In The Metabolic and Molecular Bases of Inherited Disease, CR Scriver, AL Beaudet, WS Sly, D Valle, eds. (New York: McGraw-Hill) pp. 3643-3654
6. Christensen, HN (1989) Distinguishing amino acid transport systems of a given cell or tissue. Methods Enzymol 173, 576-616
7. Christensen, HN (1990) Role of amino acid transport and counter transport in nutrition and metabolism. Physiol Rev 70, 43-77
8. Curriden, S, Englesberg, E (1981) Inhibition of growth of proline-requiring Chinese hamster ovary cells (CHO-K1) resulting from antagonism by A system amino acids. J Cell Physiol 106, 245-252
9. Dillehay, AL, Bass, R, Englesberg, E (1980) Inhibition of growth cells in culture by L-phenylalanine as a model system for the analysis of phenylketonuria. I. Amino acid antagonism and the inhibition of protein synthesis. J Cell Physiol 102, 395-405
10. Evered, DF (1956) The excretion of amino acids by the human. Biochem J 62, 416-427
11. Evers, J, Murer, H, Kinne, R (1976) Phenylalanine uptake in isolated renal brush border vesicles. Biochim Biophys Acta 426, 598-615
12. Forbush, B (1983) Assay of Na, K-ATPase in plasma membrane preparations: increasing the permeability of membrane vesicles using sodium dodecyl sulfate buffered with bovine serum albumin. Anal Biochem 128, 159-163
13. George, SG, Kenny, AJ (1973) Studies on the enzymology of purified preparations of brush border from rabbit kidney. Biochem J 134, 43-57
14. Groth, U, Rosenberg, LE (1972) Transport of dibasic amino acids, cystine, and tryptophan by cultured human fibroblasts: absence of a defect in cystinuria and Hartnup disease. J Clin Invest 51, 2130-2142
15. + antiporter activity in sheep during transition from fetus to newborn. Am J Physiol 267, F537-F545
16. Halvorsen, S, Hygstedt, O, Jagenburg, R, Sjaastad, O (1969) Cellular transport of L-histidine in Hartnup disease. J Clin Invest 48, 1552-1559
17. Heinz, E, Weinstein, AM (1984) The overshoot phenomenon in cotransport. Biochim Biophys Acta 776, 83-91
18. + exchanger in renal microvillus membrane vesicles. Am J Physiol 238, F461-F469
19. Lemieux, B, Auray-Blais, C, Giguere, R, Shapcott, D, Scriver, CR (1988) Newborn urine screening experience with over one million infants in Quebec Network of Genetic Medicine. J Inherited Metab Dis 11, 45-55
20. Les, EP (1966) Husbandry. In Biology of the Laboratory Mouse, EL Green, ed. (New York: McGraw-Hill) pp. 29-37
21. Levy, HL (1995) Hartnup Disorder, In The Metabolic and Molecular Buses of Inherited Disease, CR Scriver, AL Beaudet, WS Sly, D Valle, eds. (New York: McGraw-Hill) pp. 3629-3642
22. Lowry, OH, Rosenbaugh, NH, Farr, AL, Randall, RJ (1951) Protein measurement with the Folin phenol reagent. J Biol Chem 193, 265-275
23. McDonald, JD, Bode, VC (1988) Hyperphenylalaninemia in the hph-I mouse mutant. Pediatr Res 23, 63-67
24. hph-5: a mouse mutant deficiency in phenylalanine hydroxylase. Proc Natl Acad Sci USA 87, 1965-1967
25. McKean, CM, Boggs, DE, Peterson, NA (1968) The influence of high phenylalanine and tyrosine on the concentrations of essential amino acids in brain. J Neurochem 15, 235-241
26. Mircheff, AK, Kippen, I, Hirayama, B, Wright, EM (1982) Delineation of sodium-stimulated amino acid transport pathways in rabbit kidney brush border vesicles. J Membr Biol 64, 113-122
27. Nielsen, EG, Vedso, S, Zimmmerman-Nielsen, C (1966) Hartnup disease in three siblings. Dan Med Bull 13, 155-161
28. Olendorf, WH (1973) Saturation of blood brain barrier transport of amino acid in phenylketonuria. Arch Neurol 28, 45-48
29. Oxender, DL, Christensen, HN (1963) Distinct mediating systems for the transport of neutral amino acids by the Ehrlich cell. J Biol Chem 238, 3686-3699
30. Peterson, GL (1977) A simplification of the protein assay method of Lowery et al. which is more generally applicable. Anal Biochem 83, 346-356
31. Pomeroy, J, Efron, ML, Dayman, J, Hoefnagal, D (1968) Hartnup Disease in a New England family. N Engl J Med 278, 1214-1216
32. Pontoglio, M, Barra, J, Hadchouel, M, Doyen, A, Kress, C, Bach, JP, Babinet, C (1996) Hepatocyte nuclear factor 1 inactivation results in hepatic dysfunction, phenylketonuria, and renal Fanconi syndrome. Cell 84, 575-585
33. Reizer, J, Reizer, A, Saier, MH (1994) A functional superfamily of sodium/solute symporters. Biochim Biophys Acta 1197, 133-166
34. Scriver, CR (1965) A genetic modification of intestinal and renal transport of certain neutral alpha-amino acids. N Engl J Med 273, 530-532
35. Scriver, CR (1988) Nutrient-gene interactions: the gene is not the disease and vice-versa. Am J Clin Nutr 48, 1505-1509
36. Scriver, CR, Mahon, B, Levy, HL, Clow, CL, Reade, TM, Kronick, J, Lemieux, B, Laberge, C (1987) The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. Am J Hum Genet 40, 401-412
37. Seakins, JWT (1977) Hartnup disease. In Metabolic and Deficiency diseases of the Nervous System, PJ Vinken, GW Bruyn, eds. (Amsterdam, North-Holland) pp. 149-170
38. Segal, S, Thier, SO (1995) Cystinuria. In Metabolic and Molecular Bases of Inherited Disease, CR Scriver, AL Beaudet, WS Sly, D Valle, eds. (New York: McGraw-Hill), pp. 3581-3602
39. Shaw, KNF, Redlich, D, Wright, SW, Jepson, JB (1960) Dependence of urinary indole excretion in Hartnup disease upon gut flora. Fed Proc 19. 194
40. Shedlovsky, A, McDonald, JD, Symula, D, Dove, WF (1993) Mouse models of phenylketonuria. Genetics 134, 1205-1210
41. Shih, VE, Bixby, EM, Alpers, DH, Bartsocas, CS, Thier, SO (1971) Studies of intestinal transport defect in Hartnup disease. Gastroenterology 61. part 1, 445-453
42. Silbernagl, S (1992) Amino acids and oligopeptides, In The Kidney: Physiology and Pathophysiology, 2nd ed., DW Seldin, G Giebisch, eds. (New York: Raven Press, Ltd.) pp. 2889-2920
43. Simell, O (1995) Lysinuric protein intolerance and other cationic aminoacidurias, In The Metabolic and Molecular Bases of Inherited Disease, CR Scriver, AL Beaudet, WS Sly, D Valle, eds. (New York: McGraw-Hill) pp. 3603-3628
44. Slocum, RH, Cummings, JG (1991) Amino acid analysis of physiological samples. In Diagnostic Human Biochemical Genetics, FA Hommes, ed. (New York: Wiley-Liss) pp. 87-126
45. Symula, DJ, Shedlovsky, A, Dove, WF (1996). Genetic mapping of hph2, a mutation affecting amino acid transport in mouse. Mamm Genome, 8, 98-101
46. Tada, K, Morikawa, T, Arakawa, T (1966) Tryptophan load and uptake of tryptophan by leukocytes in Hartnup disease. Tohoku J Exp Med 90. 337-346
47. Tarlow, MJ, Seakins, WT, Lloyd, JK, Cheng, B, Thomas, AJ (1972) Absorption of amino acids and peptides in a child with a variant of Hartnup Disease and coexistent coeliac disease. Arch Dis Child 47, 798-803
48. Wilcken, B, Yu, JS, Brown, DA (1977) Natural history of Hartnup disease. Arch Dis Child 52, 38-40