Abnormal fat distribution in PMM2-CDG

Molecular Genetics and Metabolism

Volumn 110, Issue 3, 2013, Pages 411-413

  Wolthuis, D F G J ^a   van Asbeck, E V ^a   Kozicz, T ^a   Morava, E ^a  

^a TULANE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Abnormal fat distribution; Congenital disorders of glycosylation; Hypoglycemia; PMM2 CDG

Indexed keywords

INSULIN RECEPTOR; PHOSPHOMANNOMUTASE; PMM2 PROTEIN; UNCLASSIFIED DRUG;

ABNORMAL FAT DISTRIBUTION; ARTICLE; CLINICAL FEATURE; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; DISORDERS OF LIPID METABOLISM; HUMAN; HYPERINSULINISM; HYPOGLYCEMIA; MAJOR CLINICAL STUDY; PRIORITY JOURNAL;

ABNORMAL FAT DISTRIBUTION; CONGENITAL DISORDERS OF GLYCOSYLATION; HYPOGLYCEMIA; PMM2-CDG;

ADIPOSE TISSUE; ADIPOSITY; BLOOD GLUCOSE; CONGENITAL DISORDERS OF GLYCOSYLATION; HUMANS; INSULIN;

EID: 84885430151     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2013.08.017     Document Type: Article

References (29)

1. Jaeken J., Matthijs G. Congenital disorders of glycosylation. Annu. Rev. Genomics Hum. Genet. 2001, 2:129-151.
2. Grunewald S., Matthijs G., Jaeken J. Congenital disorders of glycosylation: a review. Pediatr. Res. 2002, 52:618-624.
3. Grunewald S. The clinical spectrum of phosphomannomutase 2 deficiency. Biochim. Biophys. Acta 2009, 1792:827-834.
4. Kjaergaard S., Schwartz M., Skovby F. Congenital disorder of glycosylation type Ia (CDG-Ia): phenotypic spectrum of the R141H/F119L genotype. Arch. Dis. Child. 2001, 85:236-239.
5. Symonds M.E., Pope M., Sharkey D., Budge H. Adipose tissue and fetal programming. Diabetologia 2012, 55:1597-1606.
6. Bernstein I.M., Goran M.I., Amini S.B., Catalano P.M. Differential growth of fetal tissues during the second half of pregnancy. Am. J. Obstet. Gynecol. 1997, 176:28-32.
7. Rosen E.D., MacDougald O.A. Adipocyte differentiation from the inside out Nature reviews. Mol. Cell Biol. 2006, 7:885-896.
8. Tang Q.Q., Lane M.D. Adipogenesis: from stem cell to adipocyte. Annu. Rev. Biochem. 2012, 81:715-736.
9. MacDougald O.A., Mandrup S. Adipogenesis: forces that tip the scales. Trends Endocrinol. Metab. 2002, 13:5-11.
10. Banerjee S.S., Feinberg M.W., Watanabe M., Gray S., Haspel R.L., Denkinger D.J., Kawahara R., Hauner H., Jain M.K. The Kruppel-like factor KLF2 inhibits peroxisome proliferator-activated receptor-gamma expression and adipogenesis. J. Biol. Chem. 2003, 278:2581-2584.
11. Tong Q., Tsai J., Tan G., Dalgin G., Hotamisligil G.S. Interaction between GATA and the C/EBP family of transcription factors is critical in GATA-mediated suppression of adipocyte differentiation. Mol. Cell. Biol. 2005, 25:706-715.
12. Hedo J.A., Kasuga M., Van Obberghen E., Roth J., Kahn C.R. Direct demonstration of glycosylation of insulin receptor subunits by biosynthetic and external labeling: evidence for heterogeneity. Proc. Natl. Acad. Sci. U. S. A. 1981, 78:4791-4795.
13. Sparrow L.G., Gorman J.J., Strike P.M., Robinson C.P., McKern N.M., Epa V.C., Ward C.W. The location and characterisation of the O-linked glycans of the human insulin receptor. Proteins 2007, 66:261-265.
14. Dohlman H.G., Bouvier M., Benovic J.L., Caron M.G., Lefkowitz R.J. The multiple membrane spanning topography of the beta 2-adrenergic receptor. Localization of the sites of binding, glycosylation, and regulatory phosphorylation by limited proteolysis. J. Biol. Chem. 1987, 262:14282-14288.
15. Conover C. Posttranslational modification of the IGF binding proteins. Contemporary Endocrinology; the IGF System 1992, 355-375. Humana Press, Inc., Totowa, NJ. R. Rosenfeld (Ed.).
16. Woods A.G., Woods C.W., Snow T.M. Congenital disorders of glycosylation. Adv. Neonatal Care 2012, 12:90-95.
17. Back K., Brannmark C., Stralfors P., Arnqvist H.J. Differential effects of IGF-I, IGF-II and insulin in human preadipocytes and adipocytes-role of insulin and IGF-I receptors. Mol. Cell. Endocrinol. 2011, 339:130-135.
18. Bluher S., Kratzsch J., Kiess W. Insulin-like growth factor I, growth hormone and insulin in white adipose tissue. Best Pract. Res. Clin. Endocrinol. Metab. 2005, 19:577-587.
19. Miller B.S., Khosravi M.J., Patterson M.C., Conover C.A. IGF system in children with congenital disorders of glycosylation. Clin. Endocrinol. 2009, 70:892-897.
20. Arner P. Adrenergic receptor function in fat cells. Am. J. Clin. Nutr. 1992, 55:228S-236S.
21. Taylor R.W., Grant A.M., Williams S.M., Goulding A. Sex differences in regional body fat distribution from pre- to postpuberty. Obesity (Silver Spring, Md.) 2010, 18:1410-1416.
22. Wells J.C. Sexual dimorphism of body composition. Best Pract. Res. Clin. Endocrinol. Metab. 2007, 21:415-430.
23. Klemm D.J., Leitner J.W., Watson P., Nesterova A., Reusch J.E., Goalstone M.L., Draznin B. Insulin-induced adipocyte differentiation. Activation of CREB rescues adipogenesis from the arrest caused by inhibition of prenylation. J. Biol. Chem. 2001, 276:28430-28435.
24. Tseng Y.H., Butte A.J., Kokkotou E., Yechoor V.K., Taniguchi C.M., Kriauciunas K.M., Cypess A.M., Niinobe M., Yoshikawa K., Patti M.E., Kahn C.R. Prediction of preadipocyte differentiation by gene expression reveals role of insulin receptor substrates and necdin. Nat. Cell Biol. 2005, 7:601-611.
25. Nakae J., Kitamura T., Kitamura Y., Biggs W.H., Arden K.C., Accili D. The forkhead transcription factor Foxo1 regulates adipocyte differentiation. Dev. Cell 2003, 4:119-129.
26. Pedersen S.B., Kristensen K., Hermann P.A., Katzenellenbogen J.A., Richelsen B. Estrogen controls lipolysis by up-regulating alpha2A-adrenergic receptors directly in human adipose tissue through the estrogen receptor alpha. Implications for the female fat distribution. J. Clin. Endocrinol. Metab. 2004, 89:1869-1878.
27. Rands E., Candelore M.R., Cheung A.H., Hill W.S., Strader C.D., Dixon R.A. Mutational analysis of beta-adrenergic receptor glycosylation. J. Biol. Chem. 1990, 265:10759-10764.
28. Agarwal A.K., Simha V., Oral E.A., Moran S.A., Gorden P., O'Rahilly S., Zaidi Z., Gurakan F., Arslanian S.A., Klar A., Ricker A., White N.H., Bindl L., Herbst K., Kennel K., Patel S.B., Al-Gazali L., Garg A. Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy. J. Clin. Endocrinol. Metab. 2003, 88:4840-4847.
29. Shimomura I., Hammer R.E., Ikemoto S., Brown M.S., Goldstein J.L. Leptin reverses insulin resistance and diabetes mellitus in mice with congenital lipodystrophy. Nature 1999, 401:73-76.