Selected Works (2016-2022)

1. Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP.
Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1.

2. Baschiera E, Sorrentino U, Calderan C, Desbats MA, Salviati L.
The multiple roles of coenzyme Q in cellular homeostasis and their relevance for the pathogenesis of coenzyme Q deficiency.
Free Radic Biol Med. 2021 Apr;166:277-286. doi: 10.1016/j.freeradbiomed.2021.02.039.

3. Acosta Lopez MJ, Trevisson E, Canton M, Vazquez-Fonseca L, Morbidoni V, Baschiera E, Frasson C, Pelosi L, Rascalou B, Desbats MA, Alcázar-Fabra M, Ríos JJ, Sánchez-García A, Basso G, Navas P, Pierrel F, Brea-Calvo G, Salviati L.
Vanillic Acid Restores Coenzyme Q Biosynthesis and ATP Production in Human Cells Lacking COQ6.
Oxid Med Cell Longev. 2019 Jul 10;2019:3904905. doi: 10.1155/2019/3904905. eCollection 2019.

4. Favaro G, Romanello V, Varanita T, Andrea Desbats M, Morbidoni V, Tezze C, Albiero M, Canato M, Gherardi G, De Stefani D, Mammucari C, Blaauw B, Boncompagni S, Protasi F, Reggiani C, Scorrano L, Salviati L, Sandri M. DRP1-mediated mitochondrial shape controls calcium homeostasis and muscle mass.
Nat Commun. 2019 Jun 12;10(1):2576. doi: 10.1038/s41467-019-10226-9.

5. Larsson L, Degens H, Li M, Salviati L, Lee YI, Thompson W, Kirkland JL, Sandri M.
Sarcopenia: Aging-Related Loss of Muscle Mass and Function.
Physiol Rev. 2019 Jan 1;99(1):427-511. doi: 10.1152/physrev.00061.2017.

6. Vazquez Fonseca L, Doimo M, Calderan C, Desbats MA, Acosta MJ, Cerqua C, Cassina M, Ashraf S, Hildebrandt F, Sartori G, Navas P, Trevisson E, Salviati L.
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic syndrome alter COQ8B function.
Hum Mutat. 2018 Mar;39(3):406-414. doi: 10.1002/humu.23376

7. Tezze C, Romanello V, Desbats MA, Fadini GP, Albiero M, Favaro G, Ciciliot S, Soriano ME, Morbidoni V, Cerqua C, Loefler S, Kern H, Franceschi C, Salvioli S, Conte M, Blaauw B, Zampieri S, Salviati L, Scorrano L, Sandri M.
Age-Associated Loss of OPA1 in Muscle Impacts Muscle Mass, Metabolic Homeostasis, Systemic Inflammation, and Epithelial Senescence.
Cell Metab. 2017 Jun 6;25(6):1374-1389.e6. doi: 10.1016/j.cmet.2017.04.021.

8.Salah H, Li M, Cacciani N, Gastaldello S, Ogilvie H, Akkad H, Namuduri AV, Morbidoni V, Artemenko KA, Balogh G, Martinez-Redondo V, Jannig P, Hedström Y, Dworkin B, Bergquist J, Ruas J, Vigh L, Salviati L, Larsson L.
The chaperone co-inducer BGP-15 alleviates ventilation-induced diaphragm dysfunction.
Sci Transl Med. 2016 Aug 3;8(350):350ra103. doi: 10.1126/scitranslmed.aaf7099.

9. Emma F, Montini G, Parikh SM, Salviati L.
Mitochondrial dysfunction in inherited renal disease and acute kidney injury.
Nat Rev Nephrol. 2016 May;12(5):267-80. doi: 10.1038/nrneph.2015.214.