Author Hillebrand, Merle

• 2006 | Journal Article | Research Paper
  ​ ​Cathepsin D deficiency is associated with a human neurodegenerative disorder​
  Steinfeld, R. ; Reinhardt, K.; Schreiber, K.; Hillebrand, M.; Kraetzner, R. ; Brück, W.   & Saftig, P.  et al.​ (2006) 
  American journal of human genetics, 78(6) pp. 988​-998​.​ DOI: https://doi.org/10.1086/504159 
  ​Details  DOI  PMID  PMC  WoS 

• 2007 | Journal Article | Research Paper
  ​ ​Live cell FRET microscopy - Homo-and heterodimerization of two human peroxisomal ABC transporters, the adrenoleukodystrophy protein (ALDP, ABCD1) and PMP70 (ABCD3)​
  Hillebrand, M.; Verrier, S. E.; Ohlenbusch, A. ; Schaefer, A.; Soeling, H.-D.; Wouters, F. S.   & Gärtner, J. ​ (2007) 
  Journal of biological chemistry, 282(37) pp. 26997​-27005​.​ DOI: https://doi.org/10.1074/jbc.M702122200 
  ​Details  DOI  PMID  PMC  WoS 

• 2012 | Journal Article
  ​ ​Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin​
  Huppke, P.; Brendel, C.; Kalscheuer, V.; Korenke, G.; Marquardt, I.; Freisinger, P. & Christodoulou, J. et al.​ (2012) 
  The American Journal of Human Genetics, 90(2) pp. 378​.​ DOI: https://doi.org/10.1016/j.ajhg.2012.01.015 
  ​Details  DOI 

• 2012 | Journal Article | Research Paper
  ​ ​Identification of a New Fatty Acid Synthesis-Transport Machinery at the Peroxisomal Membrane​
  Hillebrand, M.; Gersting, S. W.; Lotz-Havla, A. S.; Schaefer, A.; Rosewich, H. ; Valerius, O.   & Muntau, A. C. et al.​ (2012) 
  Journal of biological chemistry, 287(1) pp. 210​-221​.​ DOI: https://doi.org/10.1074/jbc.M111.272732 
  ​Details  DOI  PMID  PMC  WoS 

• 2012 | Journal Article | Research Paper
  ​ ​Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin​
  Huppke, P. ; Brendel, C.; Kalscheuer, V.; Korenke, G. C.; Marquardt, I.; Freisinger, P. & Christodoulou, J. et al.​ (2012) 
  American journal of human genetics, 90(1) pp. 61​-68​.​ DOI: https://doi.org/10.1016/j.ajhg.2011.11.030 
  ​Details  DOI  PMID  PMC  WoS 

• 2013 | Journal Article | Research Paper | 
  ​ ​Methotrexate treatment of FraX fibroblasts results in FMR1 transcription but not in detectable FMR1 protein levels​
  Brendel, C.; Mielke, B.; Hillebrand, M.; Gärtner, J.   & Huppke, P. ​ (2013) 
  Journal of Neurodevelopmental Disorders, 5 art. 23​.​ DOI: https://doi.org/10.1186/1866-1955-5-23 
  ​Details  DOI  PMID  PMC  WoS 

• 2020 | Journal Article | 
  ​ ​Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity​
  Lazarov, E.; Hillebrand, M.; Schröder, S.; Ternka, K.; Hofhuis, J. ; Ohlenbusch, A.   & Barrantes-Freer, A.  et al.​ (2020) 
  Neurobiology of Disease, 143 pp. 105012​.​ DOI: https://doi.org/10.1016/j.nbd.2020.105012 
  ​Details  DOI 

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