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US 12,467,929 B2Granted
Methods of detecting UBE3A protein
AssigneeBiogen MA Inc.
InventorsKyle Bradley Fraser, Omar Sharif Mabrouk, Danielle LeeZetta Graham
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Abstract
The present disclosure provides a method of detecting the presence or amount of a UBE3A protein in a sample, such as a human sample, using mass spectrometry based techniques. The methods described herein are useful for diagnosing Angelman syndrome, as well as monitoring disease progression and treatment effectiveness.
Claims20
A method of detecting the presence or amount of a UBE3A protein in a sample, the method comprising:
- contacting the sample with an antibody that binds to the UBE3A protein;
- removing from the sample some or all of the proteins that are not bound to the antibody, resulting in a purified protein preparation;
- subjecting the purified protein preparation to enzymatic digestion, resulting in a digested peptide preparation;
- and
- determining via mass spectrometry the presence or amount of one or more UBE3A peptides in the digested peptide preparation, thereby identifying the presence or amount of the UBE3A protein in the sample.
2 more elements
Dependencies are inferred from the claim text.