MFSD2A frameshift variant in Kerry Hill sheep with microcephaly

The Role of Mfsd2a in Nervous System Diseases

(2021) Bei Huang et al.   Frontiers in Neuroscience

PEA15 loss of function and defective cerebral development in the domestic cat

(2020) Emily C. Graff et al.   PLoS Genetics

Invited review: Bioinformatic methods to discover the likely causal variant of a new autosomal recessive genetic condition using genome-wide data

(2018) G. E. Pollott   Animal

The lysolipid transporter Mfsd2a regulates lipogenesis in the developing brain

(2018) Jia Pei Chan et al.   PLOS BIOLOGY

A high resolution atlas of gene expression in the domestic sheep (Ovis aries)

(2017) Emily L. Clark et al.   PLoS Genetics

A partially inactivating mutation in the sodium-dependent lysophosphatidylcholine transporter MFSD2A causes a non-lethal microcephaly syndrome

(2015) Vafa Alakbarzade et al.   NATURE GENETICS

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

(2015) Alicia Guemez-Gamboa et al.   NATURE GENETICS

C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle

(2015) Sandrine Floriot et al.   Nature Communications

Mfsd2a is critical for the formation and function of the blood–brain barrier

(2014) Ayal Ben-Zvi et al.   NATURE

Mfsd2a is a transporter for the essential omega-3 fatty acid docosahexaenoic acid

(2014) Long N. Nguyen et al.   NATURE