Patents Assigned to The ML4 Foundation and President and Fellows of Havard College
  • Gene encoding a new TRP channel is mutated in mucolipidosis IV
    Publication number: 20030064363
    Abstract: The present invention relates to identification of a gene that is inactivated in a mucolipidosis condition. In particular, the invention concerns mutations that disrupt a mucolipin, preferably MCOLN1, in mucolipidosis IV. Recombinant nucleic acids encoding mutant forms of MCOLN1, oligonucleotides specific for such mutations, and diagnostic and therapeutic applications related to these discoveries, are also contemplated.
    Type: Application
    Filed: May 8, 2001
    Publication date: April 3, 2003
    Applicant: The ML4 Foundation and President and Fellows of Havard College
    Inventors: Ehud Goldin, Susan A. Slaugenhaupt, Mei Sun, James S. Acierno