Identification of Warburg-Cinotti Syndrome associated DDR2 mutations.

A. Schematic of the DDR2 cytosolic region (amino acids 400 to 855) with amino acid boundaries of the JM4 region and the kinase indicated. TM, transmembrane domain. B. Left, Crystal structure of DDR2 kinase domain. Figure generated with PyMOL using PDB c...

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Detalhes bibliográficos
Autor principal:	Ziteng Hao (22647882) (author)
Outros Autores:	Birgit Leitinger (111622) (author)
Publicado em:	2025
Assuntos:	Biophysics Biochemistry Cell Biology Molecular Biology Biotechnology Immunology Infectious Diseases Virology Biological Sciences not elsewhere classified Chemical Sciences not elsewhere classified substrate phosphorylation rates mechanistic studies addressing key catalytic residues increased catalytic rates autosomal dominant manner atp binding affinity independent constitutive autophosphorylation missense variant bypasses y740c kinase constructs wt ddr2 kinase y740c kinase substituted variant missense mutations enhanced autophosphorylation ddr2 kinase ddr1 kinase y740c displayed wt ddr2 soluble wt xlink "> unphosphorylated ddr2 structural explanation skin fusion previously hypothesised mammalian cells length proteins keloid plaques function mechanism enzyme kinetics corneal vascularisation cinotti variants cinotti syndrome cause disease autoinhibitory constraints
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Identification of Warburg-Cinotti Syndrome associated DDR2 mutations.

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