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
- Batten Disease
- Protein Lipidation
- 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)
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)
- American Association for Physicians, 2002
- American Society for Clinical Investigation, 1997
- American Society of Biochemistry and Molecular Biology
- American Society of Hematology