Sandra Hofmann, M.D., Ph.D.

Professor

Department: Internal Medicine, Molecular Genetics

Graduate Programs: Integrative Biology

Biography

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.

Education

Medical School BJC Healthcare (1983)
Internship BJC Healthcare (1984), Internal Medicine
Fellowship BJC Healthcare (1986), Hematology/oncology
Residency BJC Healthcare (1986), Internal Medicine

Specialty Areas

Clinical Interests

  • Primary Interests
  • Internal Medicine

Research Interests

  • Neuronal Ceroid Lipofuscinosis (Batten Disease)
  • Oncogenesis
  • Protein Lipidation

Publications

Featured Publications Legend

Featured Publications

Lysosomal metabolism of lipid-modified proteins

Lu, J-Y and Hofmann, SL J. Lipid Res. , in press.

Progressively reduced synaptic vesicle pool size in cultured neurons derived from neuronal ceroid lipofuscinosis-1 knockout mice

Virmani, T, Gupta, P, Liu, X, Kavalali, ET and Hofmann, SL Neurobiol. Dis. November 2005 20 314-323

pdf-1, a palmitoyl protein thioesterase 1 ortholog in Schizosaccharomyces pombe: a yeast model of infantile Batten disease

Cho, SK and Hofmann, SL Eukaryot. Cell April 2004 3 302-10

Disruption of PPT2 in mice causes an unusual lysosomal storage disorder with neurovisceral features

Gupta, P, Soyombo, AA, Shelton, JM, Wilkofsky, IG, Wisniewski, KE, Richardson, JA and Hofmann, SL Proc. Natl. Acad. Sci. U.S.A. October 2003 100 12325-30

The crystal structure of palmitoyl protein thioesterase-2 reveals the basis for divergent substrate specificities of the two lysosomal thioesterases (PPT1 and PPT2)

Calero GA, Gupta P, Nonato MC, Tandel S, Biehl ER, Hofmann SL, Clardy J, J. Biol. Chem. September 2003 278 37957-64

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Honors/Awards

  • Javits Neuroscience Investigator (MERIT) Award
    NINDS, National Institutes of Health (2004)
  • 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