Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease

Grove, Jane I.; Lo, Peggy C.K.; Shrine, Nick; Barwell, Julian; Wain, Louise V.; Tobin, Martin D.; Salter, Andrew M.; Borkar, Aditi N.; Cuevas-Ocaña, Sara; Bennett, Neil; John, Catherine; Ntalla, Ioanna; Jones, Gabriela E.; Neal, Christopher P.; Thomas, Mervyn G.; Kuht, Helen; Gupta, Pankaj; Vemala, Vishwaraj M.; Grant, Allister; Adewoye, Adeolu B.; Shenoy, Kotacherry T.; Balakumaran, Leena K.; Hollox, Edward J.; Hannan, Nicholas R.F.; Aithal, Guruprasad P.

doi:10.1016/j.jhepr.2023.100764

All Outputs (2)

A Cell-Based Optimised Approach for Rapid and Efficient Gene Editing of Human Pluripotent Stem Cells (2023)
Journal Article
Cuevas-Ocaña, S., Yang, J. Y., Aushev, M., Schlossmacher, G., Bear, C. E., Hannan, N. R., Perkins, N. D., Rossant, J., Wong, A. P., & Gray, M. A. (2023). A Cell-Based Optimised Approach for Rapid and Efficient Gene Editing of Human Pluripotent Stem Cells. International Journal of Molecular Sciences, 24(12), Article 10266. https://doi.org/10.3390/ijms241210266

Introducing or correcting disease-causing mutations through genome editing in human pluripotent stem cells (hPSCs) followed by tissue-specific differentiation provide sustainable models of multiorgan diseases, such as cystic fibrosis (CF). However, l... Read More about A Cell-Based Optimised Approach for Rapid and Efficient Gene Editing of Human Pluripotent Stem Cells.

Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease (2023)
Journal Article
Grove, J. I., Lo, P. C., Shrine, N., Barwell, J., Wain, L. V., Tobin, M. D., Salter, A. M., Borkar, A. N., Cuevas-Ocaña, S., Bennett, N., John, C., Ntalla, I., Jones, G. E., Neal, C. P., Thomas, M. G., Kuht, H., Gupta, P., Vemala, V. M., Grant, A., Adewoye, A. B., …Aithal, G. P. (2023). Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease. JHEP Reports, 5(8), Article 100764. https://doi.org/10.1016/j.jhepr.2023.100764

Background & Aims: Non-alcoholic fatty liver disease (NAFLD) is a complex trait with an estimated prevalence of 25% globally. We aimed to identify the genetic variant underlying a four-generation family with progressive NAFLD leading to cirrhosis, de... Read More about Identification and characterisation of a rare MTTP variant underlying hereditary non-alcoholic fatty liver disease.