Author

Marni J. Falk

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Review Open access Sep 2026

Advances in diagnosis of mitochondrial dysfunction and primary mitochondrial disease.

Mitochondria are critical cellular organelles engaged in energy production, diverse intermediary metabolic functions and signaling. Inherited genetic disorders directly affecting mitochondrial structure and/or function, known collectively as primary mitochondrial diseases, are among the most complex and heterogeneous i...

M. Kose, E. McCormick, J. Peterson et al. · Disease Models & Mechanisms · 0 citations

Review Open access Sep 2026

Endothelial–mitochondrial coupling in mitochondrial disease: A systematic review and quantitative synthesis of vascular, biochemical, and oxidative bioenergetic dysfunction

Improvements in endothelial function and NO synthesis following l-arginine or l-citrulline supplementation are consistent with a role for impaired endothelial NO signaling in the vascular manifestations of mitochondrial disease.

J. A. Adams, Tiffany S. Ko, Laith R. Sultan et al. · Therapeutic Advances in Rare... · 0 citations

Open access Jul 2026

Targeted modulation of IGFBP5/IGF1, THPO, and P38 MAPK signaling are potent therapeutic strategies generalizable for mitochondrial respiratory chain disease and osteosarcoma

Combination therapies targeting multiple of these glucose signaling pathway proteins, together with glucose and N-acetylcysteine, yielded superior therapeutic benefit in complex I disease cell and C. elegans models.

Kelsey Keith, Min Peng, Cristina Remes et al. · bioRxiv · 0 citations