Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination
出版年份 2018 全文链接
标题
Homozygous mutation in MFSD2A, encoding a lysolipid transporter for docosahexanoic acid, is associated with microcephaly and hypomyelination
作者
关键词
MFSD2A, Docosahexanoic acid, Blood-brain barrier, Microcephaly, Lysophosphatidylcholine, Lysolipid transporters
出版物
NEUROGENETICS
Volume -, Issue -, Pages -
出版商
Springer Nature
发表日期
2018-07-25
DOI
10.1007/s10048-018-0556-6
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Blood-Brain Barrier Permeability Is Regulated by Lipid Transport-Dependent Suppression of Caveolae-Mediated Transcytosis
- (2017) Benjamin J. Andreone et al. NEURON
- Structural Insights into the Transport Mechanism of the Human Sodium-dependent Lysophosphatidylcholine Transporter MFSD2A
- (2016) Debra Q. Y. Quek et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Serine biosynthesis and transport defects
- (2016) Ayman W. El-Hattab MOLECULAR GENETICS AND METABOLISM
- Solute Carriers in the Blood–Brain Barier: Safety in Abundance
- (2016) Katarzyna A. Nałęcz NEUROCHEMICAL RESEARCH
- A homozygous mutation inSLC1A4in siblings with severe intellectual disability and microcephaly
- (2015) M. Srour et al. CLINICAL GENETICS
- SLC1A4mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum
- (2015) G. Heimer et al. CLINICAL GENETICS
- Mutations inSLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination
- (2015) Nadirah Damseh et al. JOURNAL OF MEDICAL GENETICS
- Case definition and classification of leukodystrophies and leukoencephalopathies
- (2015) Adeline Vanderver et al. MOLECULAR GENETICS AND METABOLISM
- 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
- Essential role of docosahexaenoic acid towards development of a smarter brain
- (2015) Kusumika Gharami et al. NEUROCHEMISTRY INTERNATIONAL
- Treatment of X-linked creatine transporter (SLC6A8) deficiency: systematic review of the literature and three new cases
- (2014) Mary Dunbar et al. MOLECULAR GENETICS AND METABOLISM
- 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
- Blood-Brain Barrier: A Dual Life of MFSD2A?
- (2014) Zhen Zhao et al. NEURON
- Phenotype and genotype in 101 males with X-linked creatine transporter deficiency
- (2013) J M van de Kamp et al. JOURNAL OF MEDICAL GENETICS
- The major facilitator superfamily (MFS) revisited
- (2012) Vamsee S. Reddy et al. FEBS Journal
- Major Facilitator Superfamily Domain-Containing Protein 2a (MFSD2A) Has Roles in Body Growth, Motor Function, and Lipid Metabolism
- (2012) Justin H. Berger et al. PLoS One
- Mutations in FLVCR2 Are Associated with Proliferative Vasculopathy and Hydranencephaly-Hydrocephaly Syndrome (Fowler Syndrome)
- (2010) Esther Meyer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Rapid Context-Dependent Ligand Desolvation in Molecular Docking
- (2010) Michael M. Mysinger et al. Journal of Chemical Information and Modeling
- Improved spatial learning performance of fat-1 mice is associated with enhanced neurogenesis and neuritogenesis by docosahexaenoic acid
- (2009) C. He et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Improved prediction of protein side-chain conformations with SCWRL4
- (2009) Georgii G. Krivov et al. PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS
- The Blood-Brain Barrier in Health and Chronic Neurodegenerative Disorders
- (2008) Berislav V. Zlokovic NEURON
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search