# First person – Eli Matsell

PMC · DOI: 10.1242/dmm.050781 · Disease Models & Mechanisms · 2024-04-24

## TL;DR

This paper discusses the role of ATP8A2 in neurological diseases and is part of a series promoting researchers.

## Contribution

The paper presents functional and computational analysis of ATP8A2 variants linked to genetic diseases.

## Key findings

- ATP8A2 variants are associated with severe neurological diseases.
- Functional analysis reveals the impact of these variants on P4-ATPase activity.

## Abstract

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 papers. Eli Matsell is first author on ‘
Functional and in silico analysis of ATP8A2 and other P4-ATPase variants associated with human genetic diseases’, published in DMM. Eli is a PhD student in the lab of Dr Robert Molday at the University of British Columbia, Vancouver, Canada, investigating the role that the P4-ATPase ATP8A2 plays in severe neurological disease.

## Linked entities

- **Genes:** ATP8A2 (ATPase phospholipid transporting 8A2) [NCBI Gene 51761]
- **Diseases:** neurological disease (MONDO:0005071)

## Full text

_Full body text omitted from this summary view._ Fetch the complete paper as Markdown: https://tomesphere.com/paper/PMC11073570/full.md

## Figures

2 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11073570/full.md

## References

1 references — full list in the complete paper: https://tomesphere.com/paper/PMC11073570/full.md

---
Source: https://tomesphere.com/paper/PMC11073570