Lotte Kleinendorst and Marjoleine Broekema
Amsterdam UMC
Locatie AMC
Meibergdreef 9
1105 AZ Amsterdam
Zuidoost
+31 20 566 5281
Facilities
- Clinical genetics outpatient clinic and diagnostic lab
Topics of interest
- Genetics of lipodystrophies
Publications
1. Broekema MF, Savage DB, Monajemi H, Kalkhoven E. Gene-gene and gene environment interactions in lipodystrophy: Lessons learned from natural PPARγ mutants. Biochim Biophys Acta Mol Cell Biol Lipids. 2019; 1864(5): 715-732.
2. Majithia AR, Tsuda B, Agostini M, Gnanapradeepan K, Rice R, Peloso G, Patel KA, Zhang X, Broekema MF, Patterson N, Duby M, Sharpe T, Kalkhoven E, Rosen ED, Barroso I, Ellard S; UK Monogenic Diabetes Consortium, Kathiresan S; Myocardial Infarction Genetics Consortium, O'Rahilly S; UK Congenital Lipodystrophy Consortium, Chatterjee K, Florez JC, Mikkelsen T, Savage DB, Altshuler D. Prospective functional classification of all possible missense variants in PPARG. Nat Genet. 2016.
3. Broekema MF, Massink MPG, De Ligt J, Stigter ECA, Monajemi H, De Ridder J, Burgering BMT, van Haaften GW, Kalkhoven E. A Single Complex Agpat2 Allele in a Patient With Partial Lipodystrophy. Front Physiol. 2018.
4. Broekema MF, Massink MPG, Donato C, de Ligt J, Schaarschmidt J, Borgman A, Schooneman MG, Melchers D, Gerding MN, Houtman R, Bonvin AMJJ, Majithia AR, Monajemi H, van Haaften GW, Soeters MR, Kalkhoven E. Natural helix 9 mutants of PPARγ differently affect its transcriptional activity. Mol Metab. 2019; 20: 115-127.
5. Hernandez-Quiles M, Broekema MF, Kalkhoven E. PPARgamma in Metabolism, Immunity, and Cancer: Unified and Diverse Mechanisms of Action. Front Endocrinol (Lausanne). 2021
6. Rakhshandehroo M, Gijzel SM, Siersbæk R, Broekema MF, de Haar C, Schipper HS, Boes M, Mandrup S, Kalkhoven E. CD1d-mediated presentation of endogenous lipid antigens by adipocytes requires microsomal triglyceride transfer protein. J Biol Chem. 2014.
7. Kleinendorst L, Massink MPG, Cooiman MI, Savas M, van der Baan-Slootweg OH, Roelants RJ, Janssen ICM, Meijers-Heijboer HJ, Knoers NVAM, Ploos van Amstel HK, van Rossum EFC, van den Akker ELT, van Haaften G, van der Zwaag B, van Haelst MM. Genetic obesity: next-generation sequencing results of 1230 patients with obesity. J Med Genet. 2018.