Genetically Modified Cell Line With Selectively Impaired O-linked Glycosylation


Genetically modified cell line which inhibits O-linked glycosylation and produces glycoproteins containing N-linked modifications.

Key Benefits

  • Model system represents epimerase deficiency galactosemia, a variant form of galactosemia.
  • Provides a means to study differing functional mechanisms of N- and O-linked glycosylation.

Market Summary

Galactosemia, a rare genetic metabolic disorder, is characterized as deficiency of enzymes involved in the metabolization of dietary galactose. For instance, UDP-galactose 4-epimerase (GALE) is one of the key enzymes needed for glycosylation, the process which regulates blood galactose levels. GALE catalyzation produces peptides used in N-linked and O-linked glycosylation, which have functionally different mechanisms and targets varying from intracellular targeting to molecular and cellular identification. Elucidating the functional differences as well as how specific enzyme deficiencies lead to varying forms of galactosemia can introduce new approaches to treating galactosemia.

Technical Summary

Emory researchers designed genetically modified cell lines that express a GALE capable of interconverting UPD-gal and UDP-glc, but essentially incapable of interconverting UDP-galNAc and UDP-glcNAc. These cells line which selectively prevent O-linked glycosylation but still allow glycosylation of N-linked sites. This potentially serves as a useful model system to represent epimerase deficiency galactosemia, a variant form of galactosemia. This cell line also serves as a useful tool for production of protein reagents or uses for assays for drugs or genes that modulate cell metabolism and/or protein function.

Patent Information

Tech ID: 02020
Published: 4/15/2010