Asociación AELIP

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A) Selected relevant original publications:

1. Savage DB, Tan GD, Acerini CL, Jebb SA, Agostini M, Gurnell M, Williams RL, Umpleby MA, Thomas EL, Bell JD, Dixon AK, Dunne F, Boiani R, Cinti S, Barroso I, Schafer AJ, Vidal-Puig A, Karpe F, Chatterjee VKK, O’Rahilly S. The Human Metabolic Syndrome Resulting from Dominant Negative Mutations in the Nuclear Receptor PPARγ. 

Diabetes 2003; 52:910-917.

2. Savage DB, Soos MA, Powlson A, O'Rahilly S, McFarlane I, Halsall DJ, Barroso I, Thomas EL, Bell JD, Scobie I, Belchetz PE, Kelly WF, Schafer AJ. Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene. 

Diabetologia 2004: 47(4):753-6.

3. Javor ED, Moran SA, Young JR, Cochran EK, DePaoli AM, Oral EA, Turman MA, Blackett PR, Savage DB, O'Rahilly S, Balow JE, Gorden P. Proteinuric nephropathy in acquired and congenital generalized lipodystrophy: baseline characteristics and course during recombinant leptin therapy. 

J Clin Endocrinol Metab. 2004: 89(7):3199-207.

4. Agostini M, Gurnell M, Savage DB, Wood EM, Smith AG, Rajanayagam O, Garnes KT, Levinson SH, Xu HE, Schwabe JW, Willson TM, O’Rahilly S, Chatterjee VK. Tyrosine agonists reverse the molecular defects associated with dominant-negative mutations in human peroxisome proliferator-activated receptor gamma. 

Endocrinology 2004: 145(4):1527-38.

5. Savage DB, Murgatroyd PR, Chatterjee VKK, O’Rahilly S. Energy expenditure and adaptive responses to an acute hypercaloric fat load in humans with lipodystrophy. 

J Clin Endocrinol Metab. 2005: 90(3):1446-52.

6. Agostini M, Schoenmakers E, Mitchell C, Szatmari I, Savage DB, Smith A, Rajanayagam O, Luan J, Semple R, Bath L, Zalin A, Labib M, Kumar S, Simpson H, Blom D, Marais AD, Schwabe J, Trembath R, Nagy L, Wareham N, Gurnell M, O’Rahilly S, Chatterjee VK. A Novel Class Of Human PPARg Mutations Causes Lipodystrophic Insulin Resistance By Dominant Negative Inhibition Via A Non-DNA Binding, Interference Mechanism. 

Cell Metabolism 2006 4(4):303-11.

7. Tan GD, Savage DB, Fielding BA, Collins J, Hodson L, Humphreys SM, O'Rahilly S, Chatterjee K, Frayn KN, Karpe F. Fatty acid metabolism in patients with PPARgamma mutations.  J Clin Endocrinol Metab. 2008 93(11):4462-70.

8.  Savage DB, Semple RK, Clatworthy MR, Lyons PA, Morgan BP, Cochran EK, Gorden P, Adams C, Scobie I, Mufti GJ, Alexander GJM, Thiru S, Murano I, Cinti S,  Chaudhry AN, Smith KGC, O’Rahilly S. Complement abnormalities in acquired lipodystrophy revisited. J Clin Endocrinol Metab. 2009 94(1):10-6.

9. Semple RK, Sleigh A, Murgatroyd PR, Adams CA, Bluck L, Charlton-Menys V, Durrington P, Soos MA, Cochran EK, Gorden P, O’Rahilly S, Savage DB. Postreceptor insulin resistance contributes to human dyslipidemia and hepatic steatosis.  J. Clin. Invest. 2009 19(2):315-22.

10.  Cabezas OR, Puri V, Murano I, Saudek V, Semple RK, Hyden CSS, Bottomley W, Vigouroux C, Magré J, Dash S, Raymond-Barker P, Murgatroyd PR, Chawla A, Skepper JN, Chatterjee K, Suliman S, LD Screening Consortium, Patch A-M, Barroso I, Cinti S, Czech MP, Argente J, O’Rahilly S, Savage DB. Partial lipodystrophy and insulin resistant diabetes in a patient with a homozygous nonsense mutation in CIDEC. EMBO Molecular Medicine 2009 1(5):280-287.

11. Gandotra S, Le Dour C, Bottomley W, Cervera P, Giral P, Reznik Y, Charpentier G, Auclair M, Delépine M, Barroso I, Semple RK, Lathrop M, Lascols O, Capeau J,  O’Rahilly S, Magré J, Savage DB**, Vigouroux C**. Perilipin deficiency and autosomal dominant partial lipodystrophy.  NEJM, 2011 Feb 24;364(8):740-8. **Joint senior and corresponding authors

12. Sleigh A, Stears A, Thackray K, Watson L, Gambineri A, Nag S, Campi VI, Schoenmakers N, Brage S, Carpenter TA, Murgatroyd PR, O'Rahilly S, Kemp GJ, Savage DB. Mitochondrial oxidative phosphorylation is impaired in patients with congenital lipodystrophy.  J Clin Endocrinol Metab. 2012 Mar;97(3):E438-42.

B) Reviews and editorials:

1. Savage DB, O’Rahilly S. Leptin: a novel therapeutic role in lipodystrophy. J Clin Invest 2002; 109:1285-1286.

2. Gurnell M*, Savage DB*, Chatterjee VK, O’Rahilly S. The metabolic syndrome: peroxisome proliferator-activated receptor gamma and its therapeutic modulation. 

J Clin Endocrinol Metab. 2003: 88(6):2412-21. (*Joint first authors)

3. Savage DB. PPARg as a metabolic regulator: insights from genomics and pharmacology. Expert Rev Mol Med. 2005: 25:1-16.

4. Savage DB, Petersen KF, Shulman GI. Disordered lipid metabolism and the pathogenesis of severe insulin resistance. Physiol Rev. 2007 87(2):507-20.

5. Savage DB, Semple RK, Chatterjee VK, Wales JK, Ross RJ, O'Rahilly S. A clinical approach to severe insulin resistance.  Endocr Dev. 2007 11:122-32. 

6. Savage DB. Mouse models of lipodystrophy. Disease Models and Mechanisms 2009 Nov-Dec;2(11-12):554-62.

7. Savage DB, O’Rahilly S. Leptin therapy in lipodystrophy. Diabetologia 2010 Jan;53(1):7-9.

8. Savage DB. Lipodystrophy: metabolic insights from a rare disorder.  J Endocrinol. 2010 Dec;207(3):245-55. 

9. Semple RK*, Savage DB*, Cochran EK, Gorden P, O'Rahilly S. Genetic Syndromes of Severe Insulin Resistance.  Endocr Rev. 2011 Aug;32(4):498-514. (*Joint first authors)

10. Stears A, O'Rahilly S, Semple RK, Savage DB. ) Metabolic insights from extreme human insulin resistance phenotypes.   Best Pract Res Clin Endocrinol Metab. 2012 Apr;26(2):145-57.

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