ArticleProceedings of the National Academy of Sciences of the United States of America2009
Neural tube defects in mice with reduced levels of inositol 1,3,4-trisphosphate 5/6-kinase.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 55 citations in OpenAlex.
- Article
- IPPK-1 and IP6 contribute to ventral nerve cord assembly in C. elegans.Developmental biology · 2025Article
- Maternal Myo-Inositol Deficiency Involved Autophagy Impairment by PI3K/Akt/mTOR Signaling in Neural Tube Defects During Pregnancy.Molecular neurobiology · 2025Article
- Biallelic Loss-of-Function Variant inInternational journal of molecular sciences · 2025Article
- Genetic Effects of ITPK1 Polymorphisms on the Risk of Neural Tube Defects: a Population-Based Study.Reproductive sciences (Thousand Oaks, Calif.) · 2023Article
- Neural Tube Defects and Folate Deficiency: Is DNA Repair Defective?International journal of molecular sciences · 2023Review
- A Paternal Methylation Error in the Congenital Hydrocephalic Texas (H-Tx) Rat Is Partially Rescued with Natural Folate Supplements.International journal of molecular sciences · 2023Article
- Investigating Genetic Determinants of Plasma Inositol Status in Adult Humans.The Journal of nutrition · 2022Article
- An update on the use of inositols in preventing gestational diabetes mellitus (GDM) and neural tube defects (NTDs).Expert opinion on drug metabolism & toxicology · 2020Review
- MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.Nature communications · 2020Article
- Closing in on Mechanisms of Open Neural Tube Defects.Trends in neurosciences · 2020Review
- Microstructural changes in the brain mediate the association of AK4, IGFBP5, HSPB2, and ITPK1 with cognitive decline.Neurobiology of aging · 2019Article
- Inositol, neural tube closure and the prevention of neural tube defects.Birth defects research · 2017Review
- Myoinositol: The Bridge (PONTI) to Reach a Healthy Pregnancy.International journal of endocrinology · 2017Review
- The maternal ITPK1 gene polymorphism is associated with neural tube defects in a high-risk Chinese population.PloS one · 2014Article
- Modeling anterior development in mice: diet as modulator of risk for neural tube defects.American journal of medical genetics. Part C, Seminars in medical genetics · 2013Review
- Trehalose prevents neural tube defects by correcting maternal diabetes-suppressed autophagy and neurogenesis.American journal of physiology. Endocrinology and metabolism · 2013Article
- Strain-specific modifier genes governing craniofacial phenotypes.Birth defects research. Part A, Clinical and molecular teratology · 2012Article
- Regulation of inositol 1,3,4-trisphosphate 5/6-kinase (ITPK1) by reversible lysine acetylation.Proceedings of the National Academy of Sciences of the United States of America · 2012Article
- Defining signal transduction by inositol phosphates.Sub-cellular biochemistry · 2012Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
Abstract
Inositol 1,3,4-trisphosphate 5/6-kinase (ITPK1) is a key regulatory enzyme at the branch point for the synthesis of inositol hexakisphosphate (IP(6)), an intracellular signaling molecule implicated in the regulation of ion channels, endocytosis, exocytosis, transcription, DNA repair, and RNA export from the nucleus. IP(6) also has been shown to be an integral structural component of several proteins. We have generated a mouse strain harboring a beta-galactosidase (betagal) gene trap cassette in the second intron of the Itpk1 gene. Animals homozygous for this gene trap are viable, fertile, and produce less ITPK1 protein than wild-type and heterozygous animals. Thus, the gene trap represents a hypomorphic rather than a null allele. Using a combination of immunohistochemistry, in situ hybridization, and betagal staining of mice heterozygous for the hypomorphic allele, we found high expression of Itpk1 in the developing central and peripheral nervous systems and in the paraxial mesoderm. Examination of embryos resulting from homozygous matings uncovered neural tube defects (NTDs) in some animals and axial skeletal defects or growth retardation in others. On a C57BL/6 x 129(P2)Ola background, 12% of mid-gestation embryos had spina bifida and/or exencephaly, whereas wild-type animals of the same genetic background had no NTDs. We conclude that ITPK1 is required for proper development of the neural tube and axial mesoderm.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.