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1. Full Text Finding the genetic mechanisms of folate deficiency and neural tube defects—Leaving no stone unturned
by Au, Kit Sing and Findley, Tina O and Northrup, Hope
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2017, Volume 173, Issue 11, pp. 3042 - 3057
Neural tube defects (NTDs) occur secondary to failed closure of the neural tube between the third and fourth weeks of gestation. The worldwide incidence ranges... 
folate one‐carbon metabolism | genetic variants | genetic association | human neural tube defects | methylation | folate one-carbon metabolism | PERICONCEPTIONAL DIETARY-INTAKE | UNITED-STATES | FOLIC-ACID FORTIFICATION | RISK-FACTORS | GLYCINE CLEAVAGE SYSTEM | CELL POLARITY GENE | BIRTH-DEFECTS | SPINA-BIFIDA | GENETICS & HEREDITY | DIHYDROFOLATE-REDUCTASE DHFR | ONE-CARBON METABOLISM | United States | Humans | Neural Tube Defects - genetics | Folic Acid Deficiency - epidemiology | Neural Tube Defects - epidemiology | Neural Tube Defects - pathology | Socioeconomic Factors | Neural Tube - pathology | Pregnancy | Folic Acid Deficiency - pathology | Neural Tube - metabolism | Folic Acid - metabolism | Female | Folic Acid - genetics | Folic Acid Deficiency - genetics | Neural Tube - growth & development | Genetic research | Folic acid | Grain | Neural tube defects | Vitamin B | Socio-economic aspects | DNA methylation | Vitamin deficiency | Genomes | FDA approval | Gestation | Gene expression | Methylation
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2. Full Text The metabolic basis for developmental disorders due to defective folate transport
by Desai, Ankuri and Sequeira, Jeffrey M and Quadros, Edward V
Biochimie, ISSN 0300-9084, 07/2016, Volume 126, pp. 31 - 42
Folates are essential in the intermediary metabolism of amino acids, synthesis of nucleotides and for maintaining methylation reactions. They are also linked... 
Developmental disorders | Autism | Folate receptor | Autoantibodies | HOMOCYSTEINE METABOLISM | NEURAL-TUBE DEFECTS | BIOCHEMISTRY & MOLECULAR BIOLOGY | FOLIC-ACID SUPPLEMENTATION | AUTISM SPECTRUM DISORDERS | RAT-LIVER MITOCHONDRIA | CEREBROSPINAL-FLUID | RECEPTOR-TYPE-BETA | CENTRAL-NERVOUS-SYSTEM | METHYL-DONOR DEFICIENCY | ONE-CARBON METABOLISM | Autistic Disorder - genetics | Folic Acid | Folic Acid Deficiency - metabolism | Autistic Disorder - pathology | Autoantibodies - metabolism | Autistic Disorder - metabolism | Humans | Neural Tube Defects - genetics | Folate Receptor 1 - antagonists & inhibitors | Neural Tube Defects - pathology | Neural Tube Defects - metabolism | Biological Transport, Active - genetics | Pregnancy | Animals | Folic Acid Deficiency - pathology | Folate Receptor 1 - genetics | Folate Receptor 1 - metabolism | Female | Folic Acid Deficiency - genetics | Prevention | Autoimmunity | Growth | Fetus | Amino acids | Leucovorin | Nucleotides | Methylation | Folic acid
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3. Full Text Widening the phenotypic spectrum – Non epileptic presentation of folate transporter deficiency
by Tabassum, Sadia and AlAsmari, Ali and AlSaman, Abdul Aziz
Journal of Clinical Neuroscience, ISSN 0967-5868, 01/2019, Volume 59, pp. 341 - 344
Folate is essential for production of DNA, neurotransmitters and myelin and regulation of genetic activity. A specific transporter protein is required to... 
White matter hyperintensity | Folinic acid | Folate transporter defect | Non-epileptic | Tremors | Seizures | LEUKOENCEPHALOPATHY | MUTATIONS | NEUROSCIENCES | CLINICAL NEUROLOGY | Humans | Malabsorption Syndromes - genetics | Brain - metabolism | Phenotype | Folic Acid Deficiency - pathology | Folate Receptor 1 - genetics | Female | Malabsorption Syndromes - diagnostic imaging | Mutation | Malabsorption Syndromes - pathology | Child | Folic Acid Deficiency - genetics | Folic Acid Deficiency - diagnostic imaging
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4. Full Text Folic acid deficiency increases brain cell injury via autophagy enhancement after focal cerebral ischemia
by Zhao, Yaqian and Huang, Guowei and Chen, Shuang and Gou, Yun and Dong, Zhiping and Zhang, Xumei
The Journal of Nutritional Biochemistry, ISSN 0955-2863, 12/2016, Volume 38, pp. 41 - 49
Folic acid (FA) deficiency is not only associated with an increased risk of ischemic stroke, but also with increased oxidative DNA damage and brain injury... 
Oxidative stress | Folic acid deficiency | Autophagy | Cerebral ischemia–reperfusion | Cortex | ACTIVATION | BIOCHEMISTRY & MOLECULAR BIOLOGY | NEURON DEATH | ENDOPLASMIC-RETICULUM STRESS | RAT MODEL | NEUROPROTECTION | NUTRITION & DIETETICS | Cerebral ischemia-reperfusion | CONTRIBUTES | Folic Acid Deficiency - metabolism | Neurons - pathology | Cell Body - drug effects | Microtubule-Associated Proteins - metabolism | Cerebral Cortex - pathology | Brain Ischemia - metabolism | Male | Cell Body - ultrastructure | Autophagy - drug effects | Cerebral Cortex - metabolism | Cerebral Cortex - ultrastructure | Autophagosomes - drug effects | Neurons - ultrastructure | Adenine - therapeutic use | Neurons - metabolism | Cerebral Cortex - drug effects | Neurons - drug effects | Biomarkers - metabolism | Brain Ischemia - complications | DNA Damage - drug effects | Microscopy, Electron, Transmission | Adenine - analogs & derivatives | Specific Pathogen-Free Organisms | Cell Body - pathology | Cell Body - metabolism | Autophagosomes - metabolism | Random Allocation | Rats, Sprague-Dawley | Autophagosomes - pathology | Autophagosomes - ultrastructure | Nerve Tissue Proteins - metabolism | Up-Regulation - drug effects | Animals | Folic Acid Deficiency - complications | Reperfusion Injury - prevention & control | Folic Acid Deficiency - pathology | Brain Ischemia - pathology | Oxidative Stress - drug effects | Beclin-1 - metabolism | Stroke (Disease) | Brain | Cerebral ischemia | Neurons | Cell death | Brain damage | Injuries | Folic acid | Safety and security measures | Food
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5. Full Text Folate deficiency disturbs hsa‐let‐7 g level through methylation regulation in neural tube defects
by Wang, Li and Shangguan, Shaofang and Xin, Yu and Chang, Shaoyan and Wang, Zhen and Lu, Xiaolin and Wu, Lihua and Niu, Bo and Zhang, Ting
Journal of Cellular and Molecular Medicine, ISSN 1582-1838, 12/2017, Volume 21, Issue 12, pp. 3244 - 3253
Folic acid deficiency during pregnancy is believed to be a high‐risk factor for neural tube defects ( NTD s). Disturbed epigenetic modifications, including mi... 
DNA | methylation | cell migration and proliferation | neural tube defects | hsa‐let‐7 g | folic acid | NTD | DNA methylation | neural tube defects (NTDs) | hsa-let-7 g | MEDICINE, RESEARCH & EXPERIMENTAL | ISOFORMS | FOLIC-ACID | HISTONE | CELL BIOLOGY | GENES | MODULATE | MIRNAS | MICRORNA EXPRESSION | BRAIN | Folic Acid Deficiency - metabolism | Neurons - pathology | Cell Proliferation | Epigenesis, Genetic | Humans | Neural Tube Defects - genetics | Neural Tube Defects - pathology | MicroRNAs - metabolism | Neural Tube Defects - metabolism | Case-Control Studies | Pregnancy | DNA Methylation | Folic Acid Deficiency - pathology | Base Sequence | Cell Line, Tumor | Folic Acid - metabolism | Adult | Female | Fetus | MicroRNAs - genetics | Neurons - metabolism | Folic Acid Deficiency - genetics | Cell Movement | Epigenetic inheritance | MicroRNA | Neural tube | Laws, regulations and rules | Analysis | Abnormalities | Health savings accounts | Methylation | Folic acid | Cell proliferation | Cell culture | Risk groups | Nutrition | Leukocyte migration | Pathogenesis | Neural tube defects | MiRNA | Vitamin deficiency | Metabolism | Gene expression | Risk factors | Defects | Acids | Vitamin B | Aberration | Cell migration | Deoxyribonucleic acid--DNA | Original
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6. Full Text A case of subacute combined degeneration of the spinal cord due to folic acid and copper deficiency
by Nakamura, Takuji and Nishi, Masanori and Rikitake, Mihoko and Koga, Daisuke and Eto, Junya and Tajima, Daisuke and Toda, Shuji and Matsuo, Muneaki
Brain and Development, ISSN 0387-7604, 01/2019, Volume 41, Issue 1, pp. 111 - 115
Subacute combined degeneration of the spinal cord (SACD) is a rare neurologic disorder manifesting progressive symptoms of paresthesia and spastic paralysis.... 
Myelopathy | Folic acid deficiency | Copper deficiency | Subacute combined degeneration of the spinal cord | CLINICAL NEUROLOGY | Precursor T-Cell Lymphoblastic Leukemia-Lymphoma - drug therapy | Subacute Combined Degeneration - therapy | Humans | Spinal Cord - diagnostic imaging | Folic Acid Deficiency - therapy | Male | Subacute Combined Degeneration - diagnostic imaging | Adrenal Insufficiency | Folic Acid Deficiency - complications | Folic Acid Deficiency - pathology | Subacute Combined Degeneration - etiology | Spinal Cord - pathology | Subacute Combined Degeneration - pathology | Adolescent | Fatal Outcome | Copper - deficiency | Folic Acid Deficiency - diagnostic imaging | Nervous system diseases | Chemotherapy | Leukemia | Physiological aspects | Paralysis | Methotrexate | T cells | Folic acid | Cancer
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7. Full Text Neurological pathology associated with vitamin B group deficiency: thiamine, folate and cobalamin
by Hernando-Requejo, V
NUTRICION HOSPITALARIA, ISSN 0212-1611, 2018, Volume 35, Issue Spec No6, pp. 54 - 59
The "fragility" of the nervous system, especially concerning to its nutrition and metabolism, explains why vitamin deficits are an important cause of... 
NUTRITION & DIETETICS | Cobalamin deficiency | Wernicke-Korsakoff syndrome | Subacute combined degeneration | WERNICKES ENCEPHALOPATHY | Thiamine deficiency | FOLIC-ACID | Folate deficiency | Folic Acid Deficiency - complications | Thiamine Deficiency - pathology | Folic Acid Deficiency - pathology | Vitamin B Deficiency - pathology | Humans | Vitamin B 12 Deficiency - complications | Nervous System Diseases - etiology | Vitamin B Deficiency - complications | Vitamin B Complex | Vitamin B 12 Deficiency - pathology | Thiamine Deficiency - complications | Nervous System Diseases - pathology
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8. Full Text A mouse model of hereditary folate malabsorption: Deletion of the PCFT gene leads to systemic folate deficiency
by Salojin, Konstantin V and Cabrera, Robert M and Sun, Weimei and Chang, Wei Chun and Lin, Colin and Duncan, Lindsay and Platt, Ken A and Read, Robert and Vogel, Peter and Liu, Qingyun and Finnell, Richard H and Oravecz, Tamas
Blood, ISSN 0006-4971, 05/2011, Volume 117, Issue 18, pp. 4895 - 4904
The human proton coupled folate transporter (PCFT) is involved in low pH-dependent intestinal folate transport. In this report, we describe a new murine model... 
TARGETED DISRUPTION | TRANSPORTER | ERYTHROBLASTS | ERYTHROPOIESIS | RECEPTOR | IRON | IDENTIFICATION | HEMATOLOGY | FOLIC-ACID | MICE LACKING | CARRIER | Folic Acid Deficiency - metabolism | Pancytopenia - pathology | Proton-Coupled Folate Transporter - deficiency | Humans | Male | DNA Primers - genetics | Mice, 129 Strain | Intestinal Absorption | Base Sequence | Female | Spleen - pathology | Folic Acid Deficiency - genetics | Disease Models, Animal | Erythropoiesis - genetics | Gene Targeting | Mice, Inbred C57BL | Proton-Coupled Folate Transporter - antagonists & inhibitors | Erythropoiesis - physiology | Mice, Knockout | Pancytopenia - metabolism | Animals | Folic Acid Deficiency - pathology | Proton-Coupled Folate Transporter - genetics | Bone Marrow - pathology | Folic Acid - metabolism | Mice | Pancytopenia - genetics
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9. Full Text Cerebral folate deficiency: A neurometabolic syndrome?
by Mangold, Sarah and Blau, Nenad and Opladen, Thomas and Steinfeld, Robert and Weßling, Britta and Zerres, Klaus and Häusler, Martin
Molecular Genetics and Metabolism, ISSN 1096-7192, 11/2011, Volume 104, Issue 3, pp. 369 - 372
Cerebral folate deficiency (CFD) is increasingly recognized in various neurological conditions, raising the question of whether it might represent a clear-cut... 
Antiepileptics | Ataxia | Cerebral folate deficiency | Mental retardation | Epilepsy | MEDICINE, RESEARCH & EXPERIMENTAL | BIOCHEMISTRY & MOLECULAR BIOLOGY | DIHYDROFOLATE-REDUCTASE DEFICIENCY | NEUROLOGIC DISEASE | CEREBROSPINAL-FLUID | IDENTIFICATION | FOLIC-ACID | GENETICS & HEREDITY | Abnormalities, Multiple - pathology | Humans | Intellectual Disability - pathology | Tetrahydrofolates - cerebrospinal fluid | Child, Preschool | Infant | Intellectual Disability - complications | Male | Syndrome | Epilepsy - complications | Young Adult | Folic Acid Deficiency - complications | Folic Acid Deficiency - pathology | Adolescent | Female | Ataxia - complications | Retrospective Studies | Child | Epilepsy - pathology | Pyramidal Tracts - pathology | Infant, Newborn | Ataxia - pathology | Mental illness | Folic acid
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10. Full Text Folate deficiency increases chromosomal damage and mutations in hematopoietic cells in the transgenic mutamouse model
by LeBlanc, Danielle P and Behan, Nathalie A and O'Brien, Jason M and Marchetti, Francesco and MacFarlane, Amanda J
Environmental and Molecular Mutagenesis, ISSN 0893-6692, 06/2018, Volume 59, Issue 5, pp. 366 - 374
Folate deficiency causes megaloblastic anemia and neural tube defects, and is also associated with some cancers. In vitro , folate deficiency increases... 
MutaMouse | micronucleus | Pig‐a | folic acid | mutagenesis | Pig-a | RODENT | ASSAY | DNA-DAMAGE | PERIPHERAL-BLOOD | MUTAGENICITY | ENVIRONMENTAL SCIENCES | ERYTHROCYTES | VITAMIN-B-12 | GENETICS & HEREDITY | DIETARY FOLIC-ACID | MICE | TOXICOLOGY | Folic Acid Deficiency - metabolism | Anemia, Megaloblastic - genetics | Mutagens - toxicity | Humans | Neural Tube Defects - genetics | Ethylnitrosourea - toxicity | Hematopoietic Stem Cells - pathology | Neural Tube Defects - pathology | Male | Neural Tube Defects - metabolism | Mutagenesis - drug effects | Anemia, Megaloblastic - metabolism | Genomic Instability - drug effects | Female | Lac Operon - drug effects | Anemia, Megaloblastic - pathology | Folic Acid Deficiency - genetics | DNA Damage - drug effects | Hematopoietic Stem Cells - drug effects | Mice, Transgenic | Animals | Mutation - drug effects | Folic Acid Deficiency - pathology | Folic Acid - metabolism | Mice | Folic Acid - genetics | Anemia, Megaloblastic - chemically induced | Dietary Supplements | Gene mutations | Anemia | Swine | Analysis | Genomics | Animal genetic engineering | Genetic aspects | Chromosomes | Folic acid | Weaning | Body weight | Transgenic | Genomes | Genomic instability | Red blood cells | Adequacy | Vitamin B | Bone marrow | Deoxyribonucleic acid--DNA | Nutrient deficiency | Neural tube defects | Vitamin deficiency | Hemopoiesis | Ethyl nitrosourea | Mutant frequency | Diet | Mutagens | Somatic cells | Mutation | Frequency stability | Chromosome aberrations
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11. Full Text Folic acid is necessary for proliferation and differentiation of C2C12 myoblasts
by Hwang, Seong Y and Kang, Yong J and Sung, Bokyung and Jang, Jung Y and Hwang, Na L and Oh, Hye J and Ahn, Yu R and Kim, Hong J and Shin, Jin H and Yoo, Mi‐ae and Kim, Cheol M and Chung, Hae Y and Kim, Nam D
Journal of Cellular Physiology, ISSN 0021-9541, 02/2018, Volume 233, Issue 2, pp. 736 - 747
Effect of folic acid resupplementation on the differentiation of C2C12 cells cultured in folic acid‐deficient conditions. We found that folic acid... 
folic acid | DNA damage | myogenic differentiation | C2C12 muscle cells | HOMOCYSTEINE | PHYSIOLOGY | FOLATE-DEFICIENCY | DNA METHYLATION | NEURAL-TUBE DEFECTS | GENE MYF-5 | CANCER | CELL BIOLOGY | METHYLENETETRAHYDROFOLATE REDUCTASE | SKELETAL-MUSCLE | DISEASE | Cell Line | Folic Acid Deficiency - metabolism | Folic Acid - pharmacology | Cellular Senescence - drug effects | Myosin Heavy Chains - metabolism | Animals | Muscle Development - drug effects | Folic Acid Deficiency - pathology | Time Factors | Cell Differentiation - drug effects | Myoblasts, Skeletal - pathology | Cell Proliferation - drug effects | Mice | DNA Damage | Cell Cycle - drug effects | Myoblasts, Skeletal - drug effects | Myogenin - metabolism | Folic Acid Deficiency - drug therapy | Myoblasts, Skeletal - metabolism | Muscles | Folic acid | Cell proliferation | Senescence | Deregulation | Transcription | Congenital defects | Immunocytochemistry | Health problems | Amino acids | Biosynthesis | Carcinogenesis | Carcinogens | Vitamin B | Cell cycle | Inhibition | Deoxyribonucleic acid--DNA | Myogenin | Anemia | Vitamin deficiency | Birth defects | Metabolism | Gene expression | Myogenesis | Skeletal muscle | Myoblasts | DNA biosynthesis | Musculoskeletal system | Walking | Molecular modelling | Diet | Acids | Ribonucleic acids | Cardiovascular diseases | Differentiation | Homocysteine | Index Medicus
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