Sandra Hofmann, MD, PhD

Professor
Internal Medicine, Molecular Genetics
Graduate Program: Integrative Biology

Contact Information

UT Southwestern Medical Center
5323 Harry Hines Boulevard
Dallas, Texas 75390

sandra.hofmann@utsouthwestern.edu

To make an appointment, call 214-645-8300.

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

ResidencyBJC Healthcare, Internal Medicine (1986)
FellowshipBJC Healthcare, Hematology/Oncology (1986)
InternshipBJC Healthcare, Internal Medicine (1984)
Medical SchoolBJC Healthcare (1983)

Research Interests

Neuronal Ceroid Lipofuscinosis (Batten Disease)
Oncogenesis
Protein Lipidation

Publications

Featured
Molecular cloning and expression of PPT2, a homolog of lysosomal palmitoyl-protein thioesterase with a distinct substrate specificity

Soyombo AA, Hofmann SL , J. Biol. Chem. , 1997; (272):27456-63

Featured
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L. , Nature , 1995; (376):584-7

Featured
Purification and properties of a palmitoyl-protein thioesterase that cleaves palmitate from H-Ras

Camp LA, Hofmann SL. , J. Biol. Chem. , 1993; (268):22566-74

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

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

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

Lysosomal metabolism of lipid-modified proteins

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

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