메뉴 건너뛰기




Volumn 12, Issue 2, 2003, Pages 145-153

Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALPHA INTERMEDIN; GLUTAMIC ACID; HISTIDINE; LEUCINE; MELANOCORTIN 4 RECEPTOR; PROLINE; SERINE;

EID: 0037439274     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg016     Document Type: Review
Times cited : (185)

References (35)
  • 1
    • 0032577309 scopus 로고    scopus 로고
    • The search for human obesity genes
    • Comuzzie, A.G. and Allison, D.B. (1998) The search for human obesity genes. Science, 280, 1374-1377.
    • (1998) Science , vol.280 , pp. 1374-1377
    • Comuzzie, A.G.1    Allison, D.B.2
  • 2
    • 0032577404 scopus 로고    scopus 로고
    • Environmental contributions to the obesity epidemic
    • Hill, J.O. and Peters, J.C. (1998) Environmental contributions to the obesity epidemic. Science, 280, 1371-1374.
    • (1998) Science , vol.280 , pp. 1371-1374
    • Hill, J.O.1    Peters, J.C.2
  • 4
    • 0032014836 scopus 로고    scopus 로고
    • A leptin missense mutation associated with hypogonadism and morbid obesity
    • Strobel, A., Issad, T., Camoin, L., Ozata, M. and Strosberg, A.D. (1998) A leptin missense mutation associated with hypogonadism and morbid obesity. Nat. Genet., 18, 213-215.
    • (1998) Nat. Genet. , vol.18 , pp. 213-215
    • Strobel, A.1    Issad, T.2    Camoin, L.3    Ozata, M.4    Strosberg, A.D.5
  • 7
    • 0031838353 scopus 로고    scopus 로고
    • Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans
    • Krude, H., Biebermann, H., Luck, W., Horn, R., Brabant, G. and Gruters, A. (1998) Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nat. Genet., 19, 155-157.
    • (1998) Nat. Genet. , vol.19 , pp. 155-157
    • Krude, H.1    Biebermann, H.2    Luck, W.3    Horn, R.4    Brabant, G.5    Gruters, A.6
  • 8
    • 0031662163 scopus 로고    scopus 로고
    • A frameshift mutation in human MC4R is associated with a dominant form of obesity
    • Vaisse, C., Clement, K., Guy-Grand, B. and Froguel, P. (1998) A frameshift mutation in human MC4R is associated with a dominant form of obesity. Nat. Genet., 20, 113-114.
    • (1998) Nat. Genet. , vol.20 , pp. 113-114
    • Vaisse, C.1    Clement, K.2    Guy-Grand, B.3    Froguel, P.4
  • 10
    • 0033343736 scopus 로고    scopus 로고
    • Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans
    • Hinney, A., Schmidt, A., Nottebom, K., Heibult, O., Becker, I., Ziegler, A., Gerber, G., Sina, M., Gorg, T., Mayer, H. et al. (1999) Several mutations in the melanocortin-4 receptor gene including a nonsense and a frameshift mutation associated with dominantly inherited obesity in humans. J. Clin. Endocr. Metab., 84, 1483-1486.
    • (1999) J. Clin. Endocr. Metab. , vol.84 , pp. 1483-1486
    • Hinney, A.1    Schmidt, A.2    Nottebom, K.3    Heibult, O.4    Becker, I.5    Ziegler, A.6    Gerber, G.7    Sina, M.8    Gorg, T.9    Mayer, H.10
  • 12
    • 0033927916 scopus 로고    scopus 로고
    • Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity
    • Vaisse, C., Clement, K., Durand, E., Hercberg, S., Guy-Grand, B. and Froguel, P. (2000) Melanocortin-4 receptor mutations are a frequent and heterogeneous cause of morbid obesity. J. Clin. Invest., 106, 253-262.
    • (2000) J. Clin. Invest. , vol.106 , pp. 253-262
    • Vaisse, C.1    Clement, K.2    Durand, E.3    Hercberg, S.4    Guy-Grand, B.5    Froguel, P.6
  • 13
    • 0034905674 scopus 로고    scopus 로고
    • Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children
    • Dubern, B., Clement, K., Pelloux, V., Froguel, P., Girardet, J., Guy-Grand, B. and Tounian, P. (2001) Mutational analysis of melanocortin-4 receptor, agouti-related protein, and alpha-melanocyte-stimulating hormone genes in severely obese children. J. Pediatr., 139, 204-209.
    • (2001) J. Pediatr. , vol.139 , pp. 204-209
    • Dubern, B.1    Clement, K.2    Pelloux, V.3    Froguel, P.4    Girardet, J.5    Guy-Grand, B.6    Tounian, P.7
  • 14
    • 0034913118 scopus 로고    scopus 로고
    • A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity
    • Mergen, M., Mergen, H., Ozata, M., Oner, R. and Oner, C. (2001) A novel melanocortin 4 receptor (MC4R) gene mutation associated with morbid obesity. J. Clin. Endocr. Metab., 86, 3448-3451.
    • (2001) J. Clin. Endocr. Metab. , vol.86 , pp. 3448-3451
    • Mergen, M.1    Mergen, H.2    Ozata, M.3    Oner, R.4    Oner, C.5
  • 15
    • 0034016043 scopus 로고    scopus 로고
    • Profound obesity associated with a balanced translocation that disrupts the SIM1 gene
    • Holder, J.L.J., Butte, N.F. and Zinn, A.R. (2000) Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum. Mol. Genet., 9, 101-108.
    • (2000) Hum. Mol. Genet. , vol.9 , pp. 101-108
    • Holder, J.L.J.1    Butte, N.F.2    Zinn, A.R.3
  • 17
    • 0031687052 scopus 로고    scopus 로고
    • Assignment of the melanocortin 4 receptor (MC4R) gene to human chromosome band 18q22 by in situ hybridisation and radiation hybrid mapping
    • Sundaramurthy, D., Campbell, D.A., Leek, J.P., Markham, A.F. and Pieri, L.F. (1998) Assignment of the melanocortin 4 receptor (MC4R) gene to human chromosome band 18q22 by in situ hybridisation and radiation hybrid mapping. Cytogenet. Cell. Genet., 82, 97-98.
    • (1998) Cytogenet. Cell. Genet. , vol.82 , pp. 97-98
    • Sundaramurthy, D.1    Campbell, D.A.2    Leek, J.P.3    Markham, A.F.4    Pieri, L.F.5
  • 18
    • 0028134706 scopus 로고
    • Localization of the melanocortin-4 receptor (MC4-R) in neuroendocrine and autonomic control circuits in the brain
    • Mountjoy, K.G., Mortrud, M.T., Low, M.J., Simerly, R.B. and Cone, R.D. (1994) Localization of the melanocortin-4 receptor (MC4-R) in neuroendocrine and autonomic control circuits in the brain. Mol. Endocrinol., 8, 1298-1308.
    • (1994) Mol. Endocrinol. , vol.8 , pp. 1298-1308
    • Mountjoy, K.G.1    Mortrud, M.T.2    Low, M.J.3    Simerly, R.B.4    Cone, R.D.5
  • 19
    • 0030614331 scopus 로고    scopus 로고
    • Role of melanocortinergic neurons in feeding and the agouti obesity syndrome
    • Fan, W., Boston, B.A., Kesterson, R.A., Hruby, V.J. and Cone, R.D. (1997) Role of melanocortinergic neurons in feeding and the agouti obesity syndrome. Nature, 385, 165-168.
    • (1997) Nature , vol.385 , pp. 165-168
    • Fan, W.1    Boston, B.A.2    Kesterson, R.A.3    Hruby, V.J.4    Cone, R.D.5
  • 20
    • 0030764741 scopus 로고    scopus 로고
    • Antagonism of central melanocortin receptors in vitro and in vivo by agouti-related protein
    • Ollmann, M.M., Wilson, B.D., Yang, Y.K., Kerns, J.A., Chen, Y, Gantz, I. and Barsh, G.S. (1997) Antagonism of central melanocortin receptors in vitro and in vivo by agouti-related protein. Science, 278, 135-138.
    • (1997) Science , vol.278 , pp. 135-138
    • Ollmann, M.M.1    Wilson, B.D.2    Yang, Y.K.3    Kerns, J.A.4    Chen, Y.5    Gantz, I.6    Barsh, G.S.7
  • 21
    • 0035130843 scopus 로고    scopus 로고
    • AgRP(83-132) acts as an inverse agonist on the human-melanocortin-4 receptor
    • Nijenhuis, W.A., Oosterom, J. and Adan, R.A. (2001) AgRP(83-132) acts as an inverse agonist on the human-melanocortin-4 receptor. Mol. Endocrinol., 15, 164-171.
    • (2001) Mol. Endocrinol. , vol.15 , pp. 164-171
    • Nijenhuis, W.A.1    Oosterom, J.2    Adan, R.A.3
  • 22
    • 0035810771 scopus 로고    scopus 로고
    • Agouti-related protein functions as an inverse agonist at a constitutively active brain melanocortin-4 receptor
    • Haskell-Luevano, C. and Monck, E.K. (2001) Agouti-related protein functions as an inverse agonist at a constitutively active brain melanocortin-4 receptor. Regul. Pept., 99, 1-7.
    • (2001) Regul. Pept. , vol.99 , pp. 1-7
    • Haskell-Luevano, C.1    Monck, E.K.2
  • 25
    • 0033544936 scopus 로고    scopus 로고
    • Functional characterization of mutations in melanocortin-4 receptor associated wih human obesity
    • Ho, G. and MacKenzie, R.G. (1999) Functional characterization of mutations in melanocortin-4 receptor associated wih human obesity. J. Biol. Chem., 274, 35816-35822.
    • (1999) J. Biol. Chem. , vol.274 , pp. 35816-35822
    • Ho, G.1    MacKenzie, R.G.2
  • 26
    • 0026058548 scopus 로고
    • Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa
    • Sung, C.H., Schneider, B.G., Agarwal, N., Papermaster, D. S. and Nathans, J. (1991) Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa. Proc. Natl Acad. Sci. USA, 88, 8840-8844.
    • (1991) Proc. Natl. Acad. Sci. USA , vol.88 , pp. 8840-8844
    • Sung, C.H.1    Schneider, B.G.2    Agarwal, N.3    Papermaster, D.S.4    Nathans, J.5
  • 28
    • 0025597137 scopus 로고
    • The LDL receptor locus in familial hypercholesterolemia: Mutational analysis of a membrane protein
    • Hobbs, H.H., Russel, D.W., Brown, M.B. and Goldstein, J.L. (1990) The LDL receptor locus in familial hypercholesterolemia: mutational analysis of a membrane protein. Ann. Rev. Genet., 24, 133-170.
    • (1990) Ann. Rev. Genet. , vol.24 , pp. 133-170
    • Hobbs, H.H.1    Russel, D.W.2    Brown, M.B.3    Goldstein, J.L.4
  • 29
    • 0034421921 scopus 로고    scopus 로고
    • Pharmacological chaperones: A new twist on receptor folding
    • Morello, J., Petäjä-Repo, U., Bichet, D. and Bouvier, M. (2000) Pharmacological chaperones: a new twist on receptor folding. TiPS, 21, 466-469.
    • (2000) TiPS , vol.21 , pp. 466-469
    • Morello, J.1    Petäjä-Repo, U.2    Bichet, D.3    Bouvier, M.4
  • 30
    • 0027452148 scopus 로고
    • Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain
    • Sung, C.H., Davenport, C.M. and Nathans, J. (1993) Rhodopsin mutations responsible for autosomal dominant retinitis pigmentosa. Clustering of functional classes along the polypeptide chain. J. Biol. Chem., 268, 26645-26649.
    • (1993) J. Biol. Chem. , vol.268 , pp. 26645-26649
    • Sung, C.H.1    Davenport, C.M.2    Nathans, J.3
  • 31
    • 0033990346 scopus 로고    scopus 로고
    • Rhodopsin trafficking and its role in retinal dystrophies
    • Sung, C.H. and Tai, A.W. (2000) Rhodopsin trafficking and its role in retinal dystrophies. Int. Rev. Cytol., 195, 215-267.
    • (2000) Int. Rev. Cytol. , vol.195 , pp. 215-267
    • Sung, C.H.1    Tai, A.W.2
  • 32
    • 0028287273 scopus 로고
    • Structure and function in rhodopsin 7. Point mutations associated with autosomal dominant retinitis pigmentosa
    • Kaushal, S. and Khorana, H.G. (1994) Structure and function in rhodopsin 7. Point mutations associated with autosomal dominant retinitis pigmentosa. Biochemistry, 33, 6121-6128.
    • (1994) Biochemistry , vol.33 , pp. 6121-6128
    • Kaushal, S.1    Khorana, H.G.2
  • 33
    • 0036500230 scopus 로고    scopus 로고
    • On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention
    • Farrar, G.J., Kenna, P.F. and Humphries, P. (2002) On the genetics of retinitis pigmentosa and on mutation-independent approaches to therapeutic intervention. Embo J., 21, 857-864.
    • (2002) Embo J. , vol.21 , pp. 857-864
    • Farrar, G.J.1    Kenna, P.F.2    Humphries, P.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.