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Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair.
Ababneh NA, Scaber J, Flynn R, Douglas A, Barbagallo P, Candalija A, Turner MR, Sims D, Dafinca R, Cowley SA, Talbot K. Ababneh NA, et al. Hum Mol Genet. 2020 Aug 3;29(13):2200-2217. doi: 10.1093/hmg/ddaa106. Hum Mol Genet. 2020. PMID: 32504093 Free PMC article.
C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.
Dafinca R, Scaber J, Ababneh N, Lalic T, Weir G, Christian H, Vowles J, Douglas AG, Fletcher-Jones A, Browne C, Nakanishi M, Turner MR, Wade-Martins R, Cowley SA, Talbot K. Dafinca R, et al. Stem Cells. 2016 Aug;34(8):2063-78. doi: 10.1002/stem.2388. Epub 2016 May 4. Stem Cells. 2016. PMID: 27097283 Free PMC article.
Impairment of Mitochondrial Calcium Buffering Links Mutations in C9ORF72 and TARDBP in iPS-Derived Motor Neurons from Patients with ALS/FTD.
Dafinca R, Barbagallo P, Farrimond L, Candalija A, Scaber J, Ababneh NA, Sathyaprakash C, Vowles J, Cowley SA, Talbot K. Dafinca R, et al. Among authors: ababneh na. Stem Cell Reports. 2020 May 12;14(5):892-908. doi: 10.1016/j.stemcr.2020.03.023. Epub 2020 Apr 23. Stem Cell Reports. 2020. PMID: 32330447 Free PMC article.
Generation and characterization of induced pluripotent stem cell (iPSC) line (JUCTCi002-A) from a patient with ataxia with oculomotor apraxia type 1 (AOA1) harboring a homozygous mutation in the APTX gene.
Ababneh NA, Al-Kurdi B, Ali D, Abuarqoub D, Barham R, Alzibdeh AM, Khanfar AN, Altantawi AM, Ryalat AT, Sharrack B, Awidi A. Ababneh NA, et al. Stem Cell Res. 2020 Oct;48:101925. doi: 10.1016/j.scr.2020.101925. Epub 2020 Jul 25. Stem Cell Res. 2020. PMID: 32769066 Free article.
Generation of an induced pluripotent stem cell (iPSC) line (JUCTCi017-A) from a patient with limb-girdle muscular dystrophy (LGMD) due to a homozygous p.Lue287Ser fs14* mutation in the SGCB gene.
Ababneh NA, Barham R, Al-Kurdi B, Ali D, Sharar N, Al Hadidi S, Alatoom RM, Zalloum S, Gharandouq MH, Makahleh L, Alnsour LN, Alshahwan H, El-Khateeb M, Awidi A. Ababneh NA, et al. Stem Cell Res. 2021 Jul;54:102358. doi: 10.1016/j.scr.2021.102358. Epub 2021 May 11. Stem Cell Res. 2021. PMID: 34087734 Free article.
Generation of a human induced pluripotent stem cell (iPSC) line (JUCTCi019-A) from a patient with Charcot-Marie-Tooth disease type 2A2 (CMT2A2) due to a heterozygous missense substitution c.2119C > T (p.Arg707Trp) in MFN2 gene.
Ababneh NA, Barham R, Al-Kurdi B, Ali D, Hadidi SA, A Ismail M, Muamar ASH, Abdulelah AA, Madadha A, Sallam M, Hassona Y, Masri A, Awidi A. Ababneh NA, et al. Stem Cell Res. 2022 Jul;62:102786. doi: 10.1016/j.scr.2022.102786. Epub 2022 Apr 12. Stem Cell Res. 2022. PMID: 35468369 Free article.
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