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., …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., …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.