Novel neuroclinical findings of autosomal recessive primary microcephaly 15 in a consanguineous Iranian family

A novel missense variant in GPT2 causes non-syndromic autosomal recessive intellectual disability in a consanguineous Iranian family

(2020) Sima Binaafar et al.   European Journal of Medical Genetics

Novel imaging and clinical phenotypes of CONDSIAS disorder caused by a homozygous frameshift variant of ADPRHL2: a case report

(2020) Hajar Aryan et al.   BMC Neurology

The Lysophosphatidylcholine Transporter MFSD2A Is Essential for CD8+ Memory T Cell Maintenance and Secondary Response to Infection

(2019) Ann R. Piccirillo et al.   JOURNAL OF IMMUNOLOGY

The Genetics of Primary Microcephaly

(2018) Divya Jayaraman et al.   Annual Review of Genomics and Human Genetics

The ACMG/AMP reputable source criteria for the interpretation of sequence variants

(2018) Leslie G Biesecker et al.   GENETICS IN MEDICINE

Correlation between the corpus callosum index and brain atrophy, lesion load, and cognitive dysfunction in multiple sclerosis

(2018) Lucas Immich Gonçalves et al.   Multiple Sclerosis and Related Disorders

Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination

(2018) Tamar Harel et al.   NEUROGENETICS

The lysolipid transporter Mfsd2a regulates lipogenesis in the developing brain

(2018) Jia Pei Chan et al.   PLOS BIOLOGY

Insights into major facilitator superfamily domain-containing protein-2a (Mfsd2a) in physiology and pathophysiology. What do we know so far?

(2018) Pinar Eser Ocak et al.   JOURNAL OF NEUROSCIENCE RESEARCH

MFSD2A Promotes Endothelial Generation of Inflammation-Resolving Lipid Mediators and Reduces Colitis in Mice

(2017) Federica Ungaro et al.   GASTROENTEROLOGY

Amino acid synthesis deficiencies

(2017) T. J. de Koning   JOURNAL OF INHERITED METABOLIC DISEASE

Mfsd2a (Major Facilitator Superfamily Domain Containing 2a) Attenuates Intracerebral Hemorrhage–Induced Blood–Brain Barrier Disruption by Inhibiting Vesicular Transcytosis

(2017) Yuan‐Rui Yang et al.   Journal of the American Heart Association

Mfsd2a Is a Transporter for the Essential ω-3 Fatty Acid Docosahexaenoic Acid (DHA) in Eye and Is Important for Photoreceptor Cell Development

(2016) Bernice H. Wong et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Associated ultrasonographic findings in fetuses with microcephaly because of suspected Zika virus (ZIKV) infection during pregnancy

(2016) Francisco Herlânio Costa Carvalho et al.   PRENATAL DIAGNOSIS

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

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

Double function at the blood–brain barrier

(2014) Christer Betsholtz   NATURE

Blood-Brain Barrier: A Dual Life of MFSD2A?

(2014) Zhen Zhao et al.   NEURON

Structure-based mechanism for Na+/melibiose symport by MelB

(2014) Abdul S. Ethayathulla et al.   Nature Communications

Structural advances for the major facilitator superfamily (MFS) transporters

(2013) Nieng Yan   TRENDS IN BIOCHEMICAL SCIENCES

Practice Parameter: Evaluation of the child with microcephaly (an evidence-based review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society

(2009) S. Ashwal et al.   NEUROLOGY

Mfsd2aencodes a novel major facilitator superfamily domain-containing protein highly induced in brown adipose tissue during fasting and adaptive thermogenesis

(2008) Martin Angers et al.   BIOCHEMICAL JOURNAL