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Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.
Maalej M, Sfaihi L, Fersi OA, Khabou B, Ammar M, Felhi R, Kharrat M, Chouchen J, Kammoun T, Tlili A, Fakhfakh F. Maalej M, et al. Among authors: khabou b. Metab Brain Dis. 2024 Apr;39(4):611-623. doi: 10.1007/s11011-024-01343-6. Epub 2024 Feb 16. Metab Brain Dis. 2024. PMID: 38363494
Molecular and computational characterization of ABCB11 and ABCG5 variants in Tunisian patients with neonatal/infantile low-GGT intrahepatic cholestasis: Genetic diagnosis and genotype-phenotype correlation assessment.
Khabou B, Kallabi F, Abdelaziz RB, Maaloul I, Aloulou H, Chehida AB, Kammoun T, Barbu V, Boudawara TS, Fakhfakh F, Khemakhem B, Sahnoun OS. Khabou B, et al. Ann Hum Genet. 2024 May;88(3):194-211. doi: 10.1111/ahg.12542. Epub 2023 Dec 18. Ann Hum Genet. 2024. PMID: 38108658
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family.
Maalej M, Tej A, Bouguila J, Tilouche S, Majdoub S, Khabou B, Tabbebi M, Felhi R, Ammar M, Mkaouar-Rebai E, Keskes L, Boughamoura L, Fakhfakh F. Maalej M, et al. Among authors: khabou b. Biochem Biophys Res Commun. 2018 Jan 8;495(2):1730-1737. doi: 10.1016/j.bbrc.2017.12.011. Epub 2017 Dec 5. Biochem Biophys Res Commun. 2018. PMID: 29217198
12 results