Publications by authors named "F Baldin"
Repair of a certain type of oxidative DNA damage leads to the release of phosphoglycolate, which is an inhibitor of triose phosphate isomerase and is predicted to indirectly inhibit phosphoglycerate mutase activity. Thus, we hypothesized that phosphoglycolate might play a role in a metabolic DNA damage response. Here, we determined how phosphoglycolate is formed in cells, elucidated its effects on cellular metabolism and tested whether DNA damage repair might release sufficient phosphoglycolate to provoke metabolic effects.
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- - Mutations in the SP110 gene cause veno-occlusive disease with immunodeficiency (VODI), a serious condition that requires early diagnosis and treatment to improve patient outcomes.
- - Current diagnostic methods struggle to identify VODI due to factors like ineffective screening for T cell deficiencies, complex gene sequencing, and a lack of functional tests for new mutations.
- - A new flow cytometric assay has been developed that is easy to use in labs, potentially allowing for quicker and more accurate diagnosis of VODI and further research into the SP110 gene’s function.
Objectives: Autoantibodies are useful biomarkers for diagnosing and monitoring treatment in some autoimmune diseases. Antibodies against isoforms of 14-3-3 protein have been proposed as biomarkers for the presence of aortic aneurysm in large-vessel vasculitis (LVV). Here, we aimed to evaluate the diagnostic role and potential immunopathological involvement of anti-14-3-3 antibodies in newly diagnosed LVV patients.
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