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K.D. Falkenberg MSc

Position
PhD student
Main activities
Research
Specialisation
Peroxisomal disorders
Focus of research

My research involves the molecular mechanisms of inherited metabolic disorders, more specifically peroxisomal disorders: Starting with identifying potentially disease-causing mutations, I functionally analyze the impact of said mutations on cell metabolism with the ultimate goal of discovering potential treatment options.

Key publications
  • Ratbi I, Falkenberg KD, Sommen M, Al-Sheqaih N, Guaoua S, Vandeweyer G, Urquhart JE, Chandler KE, Williams SG, Roberts NA, El Alloussi M, Black GC, Ferdinandusse S, Ramdi H, Heimler A, Fryer A, Lynch SA, Cooper N, Ong KR, Smith CEL, Inglehearn CF, Mighell AJ, Elcock C, Poulter JA, Tischkowitz M, Davies SJ, Sefiani A, Mironov AA, Newman WG, Waterham HR, van Camp G, Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6. AM J HUM GENET 2015;97 (4):535-545 [PubMed]
  • Ferdinandusse S, Falkenberg KD, Koster J, Mooyer PA, Jones R, van Roermund CWT, Pizzino A, Schrader M, Wanders RJA, Vanderver A, Waterham HR, ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism. J MED GENET 2017;54 (5):330-337 [PubMed]
All Publications