ScholarLens Back to search
2021•NeurologyRequires access

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects (4714)

Stéphanie Efthymiou, Andreea Manole, Emer O’ Connor, Henry Houlden

Open publisher page 7 citations

Abstract

We aimed to provide genetic proof for mutations in asparaginyl-tRNA synthetase (NARS1) and analyze their impact through the use of individual cell lines, neural progenitor cells, and molecular modelling.

About this research paper

What this paper is about

We aimed to provide genetic proof for mutations in asparaginyl-tRNA synthetase (NARS1) and analyze their impact through the use of individual cell lines, neural progenitor cells, and molecular modelling.

Why it matters

OpenAlex reports 7 citations for this work. Citation counts describe recorded attention and do not establish research quality.

Key contribution

A contribution statement is not available in the OpenAlex record.

Method / approach

Method details are not available in the OpenAlex metadata.

Main findings

Findings are not separately available in the OpenAlex metadata.

Limitations

Limitations are not available in the OpenAlex metadata.

Applications

Application details are not available in the OpenAlex metadata.

Available abstract

We aimed to provide genetic proof for mutations in asparaginyl-tRNA synthetase (NARS1) and analyze their impact through the use of individual cell lines, neural progenitor cells, and molecular modelling.

Key concepts: Gain of function, Loss function, Allele, Function (biology), Brain function, Genetics, Medicine, Neuroscience

Related papers

Related paper 1Related paper 2Related paper 3
Back to paper searchBrowse research topicsOriginal source
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects (4714) — Research Paper | ScholarLens