公开(公告)号：US20180105860A1

公开(公告)日：2018-04-19

申请号：US15820364

申请日：2017-11-21

Applicant: Agency For Science, Technology And Research

Inventor： BRUNO REVERSADE ,  Stefan Mundlos

IPC: C12Q1/26 ,  G01N33/573 ,  C12N9/06 ,  C12N15/113 ,  C12Q1/6886 ,  G01N33/50

CPC classification number: C12Q1/26 ,  A61K38/00 ,  C12N9/0028 ,  C12N15/1137 ,  C12N2310/11 ,  C12N2310/3233 ,  C12Q1/6886 ,  C12Q2600/158 ,  C12Y105/01002 ,  G01N33/5088 ,  G01N33/573 ,  G01N2333/90661 ,  G01N2800/20

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.

公开(公告)号：US09862986B2

公开(公告)日：2018-01-09

申请号：US14583083

申请日：2014-12-24

Applicant: AGENCY FOR SCIENCE, TECHNOLOGY AND RESEARCH

Inventor： Bruno Reversade ,  Stefan Mundlos

IPC: C12Q1/26 ,  C12N9/06 ,  C12N15/113 ,  C12Q1/68 ,  G01N33/50 ,  G01N33/573 ,  A61K38/00

CPC classification number: C12Q1/26 ,  A61K38/00 ,  C12N9/0028 ,  C12N15/1137 ,  C12N2310/11 ,  C12N2310/3233 ,  C12Q1/6886 ,  C12Q2600/158 ,  C12Y105/01002 ,  G01N33/5088 ,  G01N33/573 ,  G01N2333/90661 ,  G01N2800/20

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.