Dr. Hofmann's laboratory has done pioneering work on the metabolism of proteins that are modified by lipids. This work has led to a greater understanding of a group of hereditary brain disorders, the neuronal ceroid lipofuscinoses (NCL, or Batten Disease). Her laboratory demonstrated that the most severe form of NCL is caused by a failure to metabolize fatty acid-modified proteins.


Medical School
Washington University in St. Louis (1983)
Washington University in St. Louis (1984), Internal Medicine
Washington University in St. Louis (1986), Hematology/oncology
Washington University in St. Louis (1986), Internal Medicine

Research Interest

  • Batten Disease
  • Protein Lipidation


Featured Publications LegendFeatured Publications

Massive palmitoylation-dependent endocytosis during reoxygenation of anoxic cardiac muscle.
Lin MJ, Fine M, Lu JY, Hofmann SL, Frazier G, Hilgemann DW Elife 2013 2 0
Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis.
Hu J, Lu JY, Wong AM, Hynan LS, Birnbaum SG, Yilmaz DS, Streit BM, Lenartowicz EM, Thompson TC, Cooper JD, Hofmann SL Mol. Genet. Metab. 2012 Sep 107 1-2 213-21
DHHC5 protein palmitoylates flotillin-2 and is rapidly degraded on induction of neuronal differentiation in cultured cells.
Li Y, Martin BR, Cravatt BF, Hofmann SL J. Biol. Chem. 2012 Jan 287 1 523-30
DHHC5 interacts with PDZ domain 3 of post-synaptic density-95 (PSD-95) protein and plays a role in learning and memory.
Li Y, Hu J, Höfer K, Wong AM, Cooper JD, Birnbaum SG, Hammer RE, Hofmann SL J. Biol. Chem. 2010 Apr 285 17 13022-31
Human recombinant palmitoyl-protein thioesterase-1 (PPT1) for preclinical evaluation of enzyme replacement therapy for infantile neuronal ceroid lipofuscinosis.
Lu JY, Hu J, Hofmann SL Mol. Genet. Metab. 2010 Apr 99 4 374-8
Functional biology of the neuronal ceroid lipofuscinoses (NCL) proteins.
Kyttälä A, Lahtinen U, Braulke T, Hofmann SL Biochim. Biophys. Acta 2006 Oct 1762 10 920-33
Thematic review series: lipid posttranslational modifications. Lysosomal metabolism of lipid-modified proteins.
Lu JY, Hofmann SL J. Lipid Res. 2006 Jul 47 7 1352-7

Honors & Awards

  • Avanti Award in Lipids
    Amerian Society for Biochemistry and Molecular Biology (2014)
  • Fellow
    American Association for the Advancement of Science (2013)
  • Javits Neuroscience Investigator (MERIT) Award
    NINDS, National Institutes of Health (2004-2011)
  • Charles E. Culpeper Foundation Scholar in Medical Science
    UT Southwestern (1991)
  • Alpha Omega Alpha
    Washington University School of Medicine (1983)
  • Sigma Xi Award
    University of Virginia (Chemistry) (1977)
  • Phi Beta Kappa
    University of Virginia (1976)

Professional Associations/Affiliations

  • American Association for Physicians, 2002
  • American Society for Clinical Investigation, 1997
  • American Society of Biochemistry and Molecular Biology
  • American Society of Hematology