[HTML][HTML] Structural and functional properties of the N and C terminal segments of the P4-ATPase phospholipid flippase ATP8A2
E Matsell, M Mazaheri, JP Andersen… - Journal of Biological …, 2024 - Elsevier
Abstract ATP8A2 is a P4-ATPase that actively flips phosphatidylserine and to a lesser extent
phosphatidylethanolamine across cell membranes to generate and maintain …
phosphatidylethanolamine across cell membranes to generate and maintain …
Translating multiscale research in rare disease
KM Hooper, MJ Justice, M Lek… - Disease Models & …, 2024 - journals.biologists.com
Rare diseases affect biological function across scales-from individual genes and their
products, to tissues, organs and the whole organism. Individually, a rare disease might affect …
products, to tissues, organs and the whole organism. Individually, a rare disease might affect …
[HTML][HTML] A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes
KP Flannery, S Safwat, E Matsell, N Battula… - medRxiv, 2024 - ncbi.nlm.nih.gov
Abstract ATPase, class 1, type 8A, member 2 (ATP8A2) is a P4-ATPase with a critical role in
phospholipid translocation across the plasma membrane. Pathogenic variants in ATP8A2 …
phospholipid translocation across the plasma membrane. Pathogenic variants in ATP8A2 …
Genetic and functional characterisation of ataxias and neuropathies with a focus on biallelic expansions in RFC1 and biallelic variants in ARHGAP19
N Dominik - 2024 - discovery.ucl.ac.uk
The understanding of genetic and functional aspects of neuropathies and ataxias can
provide evidence for therapeutic targets and translation into clinic. In my work, I employed …
provide evidence for therapeutic targets and translation into clinic. In my work, I employed …
First person–Eli Matsell
E Matsell - 2024 - journals.biologists.com
First Person is a series of interviews with the first authors of a selection of papers published
in Disease Models & Mechanisms, helping researchers promote themselves alongside their …
in Disease Models & Mechanisms, helping researchers promote themselves alongside their …