Muteins of the pyrroline-5-carboxylate reductase 1
AssigneeAgency for Science, Technology and Research
InventorsBruno Reversade, Stefan Mundlos
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Abstract
The invention relates to muteins of the pyrroline-5-carboxylate reductase 1 (PYCR1), to nucleic acid molecules comprising a nucleotide sequence encoding such muteins, to methods of determining in a subject a predisposition of having an age related disorder associated with PYCR1, to methods of identifying a compound capable of modifying the expression of PYCR1, and methods of treating a subject having an age-related disorder associated with PYCR1. The invention further relates to a genetically modified animal and a method of modifying the expression of the PYCR1 gene in an animal.
Claims18
A method of identifying a compound capable of modifying the activity of a pyrroline-5-carboxylate reductase 1 (PYCR1) mutein, the method comprising:
- a. contacting a skin layer with a compound of interest wherein skin cells of the skin layer comprise a PYCR1 mutein and/or a nucleic acid molecule encoding a mutein of PYCR1, and
- b. measuring the expression of the PYCR1 mutein, the expression of the PYCR1 gene encoding for the PYCR1 mutein, or both, and
- c. comparing the result of the measurement obtained from step (b) with that of a control measurement without the addition of the compound of interest,
- wherein the compound increases the expression of the PYCR1 mutein and/or the PYCR1 gene encoding for the PYCR1 mutein in the presence of the compound compared to the control indicating that the compound of interest has a desired property and wherein the PYCR1 mutein comprises or consists of the amino acid sequence set forth in SEQ ID NO. 4, wherein the amino acid residue corresponding to sequence position 206 is mutated.
Dependencies are inferred from the claim text.