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Mark Schultz


scmark@med.umich.edu
Mentor: Beverly Davidson, Ph.D.
Lab Room: 200 EMRB
Lab Phone: 319-353-5511

Understanding the molecular events which cause Batten Disease

Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) or Batten Disease is a lethal progressive neurodegenerative disease in children, caused by mutations in the CLN3 protein. The function of CLN3 is unknown and previous research suggests it may be involved in lipid metabolism, galactosylceramide transport, vesicular trafficking, and endocytosis. Unpublished data from the Davidson lab has shown that brain microvasculature endothelial cells derived from CLN3 KO mice, have a reduction in fluid phase endocytosis (FPE). When CLN3 was restored to endogenous levels in these cells using lentiviral gene transfer, the defect in FPE was alleviated. My thesis project is centered on investigating the molecular defects causing the FPE cellular phenotype.


Schultz ML, Tecedor L, Chang M, Davidson BL. Clarifying lysosomal storage diseases. Trends Neurosci. 2011 Aug;34(8):401-10. Epub 2011 Jun 30. Review. PubMed PMID: 21723623; PubMed Central PMCID: PMC3153126.

Xie P, Poovassery J, Stunz LL, Smith SM, Schultz ML, Carlin LE, Bishop GA. Enhanced Toll-like receptor (TLR) responses of TNFR-associated factor 3 (TRAF3)-deficient B lymphocytes. J Leukoc Biol. 2011 Dec;90(6):1149-57. Epub 2011 Oct 4. PubMed PMID: 21971520; PubMed Central PMCID: PMC3236554.



Honors and Awards

  • MCB Training Grant
  • Batten Disease Support and Research Association Travel Grant
  • MCB Retreat Committee
  • Best presentation: 1st JNCL symposium in Hamburg Germany
  • 2011 NCL-Stiftung Travel Grant to attend 1st JNCL PhD Symposium in Hamburg Germany
  • 2012 NCL-Stiftung Travel Grant to attend NCL Congress London England
  • 2012 Graduate Student Senate Travel award, University of Iowa