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

A Guemez-Gamboa, LN Nguyen, H Yang, MS Zaki… - Nature …, 2015 - nature.com
Docosahexanoic acid (DHA) is the most abundant omega-3 fatty acid in brain, and, although
it is considered essential, deficiency has not been linked to disease,. Despite the large mass …

Structural basis of omega-3 fatty acid transport across the blood–brain barrier

RJ Cater, GL Chua, SK Erramilli, JE Keener, BC Choy… - Nature, 2021 - nature.com
Docosahexaenoic acid is an omega-3 fatty acid that is essential for neurological
development and function, and it is supplied to the brain and eyes predominantly from …

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

V Alakbarzade, A Hameed, DQY Quek, BA Chioza… - Nature …, 2015 - nature.com
The major pathway by which the brain obtains essential omega-3 fatty acids from the
circulation is through a sodium-dependent lysophosphatidylcholine (LPC) transporter …

[HTML][HTML] Structural Insights into the Transport Mechanism of the Human Sodium-dependent Lysophosphatidylcholine Transporter MFSD2A*♦

DQY Quek, LN Nguyen, H Fan, DL Silver - Journal of Biological Chemistry, 2016 - ASBMB
Major facilitator superfamily domain containing 2A (MFSD2A) was recently characterized as
a sodium-dependent lysophosphatidylcholine transporter expressed at the blood-brain …

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

T Harel, DQY Quek, BH Wong, A Cazenave-Gassiot… - Neurogenetics, 2018 - Springer
The major facilitator superfamily domain-containing protein 2A (MFSD2A) is a constituent of
the blood-brain barrier and functions to transport lysophosphatidylcholines (LPCs) into the …

[HTML][HTML] Novel serum and urinary metabolites associated with diabetic retinopathy in three Asian cohorts

DQY Quek, F He, R Sultana, R Banu, ML Chee… - Metabolites, 2021 - mdpi.com
Diabetic retinopathy (DR) is a microvascular complication of diabetes mellitus, a metabolic
disorder, but understanding of its pathophysiology remains incomplete. Meta-analysis of …

The longitudinal association between cognitive impairment and incident visual impairment in a multiethnic Asian population: a prospective cohort study

TA Vu, P Gupta, FZY Leow, EK Fenwick… - Age and …, 2022 - academic.oup.com
Background The relationship between baseline cognitive impairment (CI) and incident
visual impairment (VI) in Asians is unclear. Objective To determine the associations between …

Relationship between vision impairment and employment

YX Chai, ATL Gan, EK Fenwick, AY Sui… - British Journal of …, 2023 - bjo.bmj.com
Aims To examine the relationship between vision impairment (VI) and employment
outcomes in a multiethnic Asian population. Methods We included 7608 Asian individuals …

Visual field defects and myopic macular degeneration in Singapore adults with high myopia

C Lanca, CH Sun, R Chong, YL Wong… - British Journal of …, 2022 - bjo.bmj.com
Aims To characterise the association between visual field (VF) defects and myopic macular
degeneration (MMD) in highly myopic adults without glaucoma. Methods Participants (n …

[HTML][HTML] Cardiovascular disease and thinning of retinal nerve fiber layer in a multi-ethnic Asian population: the Singapore epidemiology of eye diseases study

S Majithia, DQY Quek, ML Chee, ZW Lim… - Frontiers in …, 2023 - frontiersin.org
Introduction Our study aimed to examine the relationship between cardiovascular diseases
(CVD) with peripapillary retinal fiber layer (RNFL) and macular ganglion cell-inner plexiform …