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SUCLA2 mutations cause global protein succinylation contributing to the pathomechanism of a hereditary mitochondrial disease.
Gut P, Matilainen S, Meyer JG, Pällijeff P, Richard J, Carroll CJ, Euro L, Jackson CB, Isohanni P, Minassian BA, Alkhater RA, Østergaard E, Civiletto G, Parisi A, Thevenet J, Rardin MJ, He W, Nishida Y, Newman JC, Liu X, Christen S, Moco S, Locasale JW, Schilling B, Suomalainen A, Verdin E. Gut P, et al. Among authors: alkhater ra. Nat Commun. 2020 Nov 23;11(1):5927. doi: 10.1038/s41467-020-19743-4. Nat Commun. 2020. PMID: 33230181 Free PMC article.
Epileptic Encephalopathy Caused by Mutations in the Guanine Nucleotide Exchange Factor DENND5A.
Han C, Alkhater R, Froukh T, Minassian AG, Galati M, Liu RH, Fotouhi M, Sommerfeld J, Alfrook AJ, Marshall C, Walker S, Bauer P, Scherer SW, Riess O, Buchert R, Minassian BA, McPherson PS. Han C, et al. Am J Hum Genet. 2016 Dec 1;99(6):1359-1367. doi: 10.1016/j.ajhg.2016.10.006. Epub 2016 Nov 17. Am J Hum Genet. 2016. PMID: 27866705 Free PMC article.
Parkinsonism-dystonia-2: Case-series study from Saudi Arabia.
Almuqbil MA, Tabassum S, Muthaffar OY, Ghamdi F, Al Masseri Z, Alsaman A, Alkhater RA. Almuqbil MA, et al. Among authors: alkhater ra. Ann Clin Transl Neurol. 2024 Apr;11(4):1063-1066. doi: 10.1002/acn3.52020. Epub 2024 Feb 22. Ann Clin Transl Neurol. 2024. PMID: 38389300 Free PMC article.