Chrome Extension
WeChat Mini Program
Use on ChatGLM
VIPCreated with Sketch.

Inactivating mutations in MFSD2A , required for omega-3 fatty acid transport in brain, cause a lethal microcephaly syndrome

Alicia Guemez-Gamboa,Long N Nguyen,Hongbo Yang,Maha S Zaki,Majdi Kara,Tawfeg Ben-Omran,Naiara Akizu,Rasim Ozgur Rosti,Basak Rosti,Eric Scott,Jana Schroth,Brett Copeland,Keith K Vaux,Amaury Cazenave-Gassiot,Debra Q Y Quek,Bernice H Wong,Bryan C Tan,Markus R Wenk,Murat Gunel,Stacey Gabriel,Neil C Chi,David L Silver,Joseph G Gleeson

Nature genetics（2015）

Cited 181|Views70
No score
Abstract
Joseph Gleeson, David Silver and colleagues show that inactivating mutations in MFSD2A , which encodes an essential transporter of long-chain fatty acids in brain, cause a lethal microcephaly syndrome. These results establish a link between the activity of this transporter and human brain growth.
More
Translated text
Key words
Medical genetics,Neurodevelopmental disorders,Biomedicine,general,Human Genetics,Cancer Research,Agriculture,Gene Function,Animal Genetics and Genomics
AI Read Science
Must-Reading Tree
Example
Generate MRT to find the research sequence of this paper
Chat Paper
Summary is being generated by the instructions you defined