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Showing 1–6 of 6 results
Advanced filters: Author: Patrick Forny Clear advanced filters

  • The authors combine multi-layered omics with clinical and biochemical features from individuals affected with methylmalonic aciduria, a rare inherited disease affecting succinyl-CoA synthesis, revealing that anaplerotic rewiring is a targetable feature.

    • Patrick Forny
    • Ximena Bonilla
    • D. Sean Froese
    ResearchOpen Access
    Nature Metabolism
    Volume: 5, P: 80-95

  • Rashan, Bartlett and colleagues show that mammalian 4-hydroxy fatty acids are primarily catabolized by ACAD10 and ACAD11 (atypical mitochondrial and peroxisomal acyl-CoA dehydrogenases, respectively) that use phosphorylation in their reaction mechanisms.

    • Edrees H. Rashan
    • Abigail K. Bartlett
    • David J. Pagliarini
    ResearchOpen Access
    Nature Structural & Molecular Biology
    Volume: 32, P: 1622-1632

  • Protein phosphorylation plays critical roles in myriad cell processes. In this work, the authors apply new mass spectrometer technology to detect and quantify tens of thousands of protein phosphorylation sites within one hour or less of analysis. This technology has potential to greatly accelerate biological discovery.

    • Noah M. Lancaster
    • Pavel Sinitcyn
    • Joshua J. Coon
    ResearchOpen Access
    Nature Communications
    Volume: 15, P: 1-18

  • Methylmalonic acidemia is an inherited metabolic disease caused by loss or mutation of the enzyme MMUT. Here the authors use cell and animal models to show that MMUT mutations lead to defective mitophagy and stress in kidney cells, contributing to the pathogenesis in methylmalonic acidemia patients.

    • Alessandro Luciani
    • Anke Schumann
    • Olivier Devuyst
    ResearchOpen Access
    Nature Communications
    Volume: 11, P: 1-21

  • The mitochondrial proteome is highly complex, comprising ~1,000–1,500 proteins in mammals. Recent technological advances are now helping to refine the mitochondrial proteome and are assisting in characterizing mitochondrial protein functions, paving the way for better diagnosis and treatment of mitochondrial diseases.

    • Zakery N. Baker
    • Patrick Forny
    • David J. Pagliarini
    Reviews
    Nature Reviews Molecular Cell Biology
    Volume: 25, P: 65-82