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Elizabeth F. Neufeld, Ph.D.

Email Address: Laboratory Address:
BSRB 346
615 Charles E. Young Drive South
Los Angeles, CA 90095

Office Address:
615 Charles E Young Drive South
Los Angeles, CA 90095

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Elizabeth F. Neufeld, Ph.D.

Department / Division Affiliations
Emeritus Member, Brain Research Institute
Professor Emerita, Biological Chemistry

Research Interest:

The brain in a mouse model of a genetic lysosomal disorder, Sanfilippo syndrome type B

Our interests have long been the cause, consequences and treatment of human genetic diseases due to deficiency of lysosomal enzymes. The disease currently under investigation is the Sanfilippo syndrome type B (MPS III B). It is caused by mutation in the NAGLU gene, with resulting deficiency of the lysosomal enzyme alpha-N-acetyl-glucosaminidase and accumulation of its substrate (heparan sulfate). The disease manifests itself in childhood by severe mental retardation and intractable behavioral problems. The neurologic deterioration progresses to dementia, with death usually in the second decade. We use a mouse knockout model (Naglu -/-) in order to study the pathophysiology of the disease and to develop therapy. Because of the special cell biology of lysosomal enzymes, which can be taken up by receptor-mediated endocytosis, exogenous administration of the enzyme could theoretically cure the disease. Unfortunately, the blood-brain barrier (BBB) prevents the therapeutic enzyme from reaching the brain. Part of our current research is to develop a novel technology to get lysosomal enzymes across the BBB. We also study changes in gene and protein expression in some specific parts of the brain, in which there is accumulation of certain lipids and proteins which seem unrelated biochemically to each other or to the primary defect. We try to understand the cause and consequences of these accumulations. Although they are secondary defects, they may be relevant to the pathophysiology of the dieease and may have represent targets for pharmacologic intervention.


Born in France, Elizabeth Neufeld immigrated to the United States in 1940. She obtained a BS from Queens College, New York and a Ph.D. from the University of California Berkeley. After postdoctoral training in, she moved to the NIH in Bethesda, MD, where she began her studies of a rare group of genetic diseases. She moved back to California in 1984 as Chair of the Department of Biological Chemistry - a position that she occupied till 2004.


Neufeld, Elizabeth F. From serendipity to therapy. Annual Reviews of Biochemistry 2011; 80: 1-15.
Ohmi Kazuhiro, Kudo Lili C, Ryazantsev Sergey, Zhao Hui-Zhi, Karsten Stanislav L, Neufeld Elizabeth F Sanfilippo syndrome type B, a lysosomal storage disease, is also a tauopathy. Proceedings of the National Academy of Sciences of the United States of America. 2009; 106(20): 8332-7.
Chen Chi-hong B, Dellamaggiore Kenneth R, Ouellette Christopher P, Sedano Cecilia D, Lizadjohry Meikana, Chernis George A, Gonzales Michelle, Baltasar Francis E, Fan Audrey L, Myerowitz Rachel, Neufeld Elizabeth F Aptamer-based endocytosis of a lysosomal enzyme. Proceedings of the National Academy of Sciences of the United States of America. 2008; 105(41): 15908-13.
Jordan M.C., Zheng Y., Ryazantsev S., Rozengurt N., Roos K.P., Neufeld E.F. Cardiac manifestations in the mouse model of mucopolysaccharidosis I. Molecular genetics and metabolism. 2008; 86(1-2): 233-43.
Ryazantsev S., Yu W.H., Zhao H.Z., Neufeld E.F., Ohmi K. Lysosomal accumulation of SCMAS (subunit c of mitochondrial ATP synthase) in neurons of the mouse model of mucopolysaccharidosis III B. Molecular genetics and metabolism. 2007; 90(4): 393-401.
Zheng Y., Ryazantsev S., Ohmi K., Zhao H.Z., Rozengurt N., Kohn D.B., Neufeld E.F. Retrovirally transduced bone marrow has a therapeutic effect on brain in the mouse model of mucopolysaccharidosis IIIB. Molecular genetics and metabolism. 2004; 82(4): 286-95.
Zheng Y., Rozengurt N., Ryazantsev S., Kohn D.B, Satake N., Neufeld E.F. Treatment of the mouse model of mucopolysaccharidosis I with retrovirally transduced bone marrow. Molecular genetics and metabolism. 2003; 79(4): 233-44.
Ohmi K., Greenberg D.S., Rajavel K.S., Ryazantsev S., Li H.H., Neufeld E.F. Activated microglia in cortex of mouse models of mucopolysaccharidoses I and IIIB. Proceedings of the National Academy of Sciences of the United States of America. 2003; 100(4): 1902-7.
Li H.H., Zhao H.Z., Neufeld E.F., Cai Y. Gómez-Pinilla F. Attenuated plasticity in neurons and astrocytes in the mouse model of Sanfilippo syndrome type B. Journal of neuroscience research 2002; 69(1): 30-8.
Rajavel K.S., Neufeld E.F. Nonsense-mediated decay of human HEXA mRNA. Molecular and cellular biology. . 2001; 21(16): 5512-9.
Kakkis E.D., Muenzer J., Tiller G.E., Waber L., Belmont J., Passage M., Izykowski B., Phillips J., Doroshow R., Walot I., Hoft R., Neufeld E.F. Enzyme- Replacement therapy in mucopolysaccharidosis I. N. Engl. J. Med 2001; 344: 182-188.
Neufeld E.F., Muenzer J. The Mucopolysaccharidoses. The Metabolic and Molecular Bases of Inherited Disease 2001; Eighth edition: 3421-3452.
Yu W.H., Zhao K.W., Ryazantsev S., Rozengurt N., Neufeld E.F. Short-term enzyme replacement in the murine model of Sanfilippo syndrome type B. Molecular genetics and metabolism. . 2000; 71(4): 573-80.
Zhao K.W., Neufeld E.F. Purification and characterization of recombinant human alpha-N-acetylglucosaminidase secreted by Chinese hamster ovary cells. Protein expression and purification. . 2000; 19(1): 202-11.
Li H.H., Yu W.H., Rozengurt N., Zhao H.Z., Lyons K.M., Anagnostaras S., Fanselow M.S., Suzuki K.. Vanier M.T., Neufeld E.F. Mouse model of Sanfilippo syndrome type B producedby targeted disruption of the gene encoding alpha-N-acetylglucosaminidase. Proc. Natl. Acad. Sci. USA 1999; 96: 14505-14510.
Schmidtchen A., Greenberg D., Zhao H.G., Li H.H., Huang Y., Tieu P., Zhao H.Z., Cheng S. Zhao Z., Whitley C.B., Di Natale P., Neufeld E.F. NAGLU mutations underlying Sanfilippo syndrome type B. American journal of human genetics. . 1998; 62(1): 64-9.
Zhao K.W., Faull K.F., Kakkis E.D., Neufeld E.F. Carbohydrate structures of recombinant human alpha-L-iduronidase secreted by Chinese hamster ovary cells. The Journal of biological chemistry. . 1997; 272(36): 22758-65.
Zhao H.G., Li H.H., Bach G., Schmidtchen A., Neufeld E.F. The molecular basis of Sanfilippo syndrome type B. Proceedings of the National Academy of Sciences of the United States of America. . 1996; 93(12): 6101-5.
Shull R.M., Kakkis E.D., McEntee M.F., Kania S.A., Jonas A.J., Neufeld E.F. Enzyme replacement in a canine model of Hurler syndrome. Proceedings of the National Academy of Sciences of the United States of America. . 1994; 91(26): 12937-41.