Recent relevant publications:
Karayol R, Borroto MC, Haghshenas S, … Sadikovic B#, Akhtar A#, Campeau PM. (2024) MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature. Am J Hum Genet. 111(7):1330-1351. #co-corresponding authors.
Zhou Y, Panhale A, Shvedunova M, … Akhtar A. (2024) RNA damage compartmentalization by DHX9 stress granules. Cell 187(7):1701-1718.e28.
Sun Y, Wiese M, Hmadi R, … Akhtar A. (2023) MSL2 ensures biallelic gene expression in mammals. Nature 624(7990):173-181.
Guhathakurta S, Erdogdu NU, Hoffmann JJ, … Akhtar A. (2023) COX17 acetylation via MOF-KANSL complex promotes mitochondrial integrity and function. Nature Metabolism 5(11):1931-1952.
Pessoa Rodrigues C, Herman JS, Stehle T, Grün D, and Akhtar A. (2020) Temporal expression of MOF acetyltransferase primes transcription factor networks for erythroid fate. Science Advances 6(21), eaaz4815.
Basilicata MF, Bruel AL, Semplicio G, … Akhtar A (2018) De novo variations of MSL3 cause a X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics 50, 1442-1451.