The DOI matches its Crossref record; 6 of the 6 references it cites were found in a registry or an index.
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
Open accessAbstract
We analyzed four families that presented with a similar condition characterized by congenital microcephaly, intellectual disability, progressive cerebral atrophy, and intractable seizures. We show that recessive mutations in the ASNS gene are responsible for this syndrome. Two of the identified missense mutations dramatically reduce ASNS protein abundance, suggesting that the mutations cause loss of function. Hypomorphic Asns mutant mice have structural brain abnormalities, including enlarged ventricles and reduced cortical thickness, and show deficits in learning and memory mimicking aspects of the patient phenotype. ASNS encodes asparagine synthetase, which catalyzes the synthesis of asparagine from glutamine and aspartate. The neurological impairment resulting from ASNS deficiency may be explained by asparagine depletion in the brain or by accumulation of aspartate/glutamate leading to enhanced excitability and neuronal damage. Our study thus indicates that asparagine synthesis is essential for the development and function of the brain but not for that of other organs.
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NIH Image to ImageJ: 25 years of image analysis
Schneider, C. A., Rasband, W. S., & Eliceiri, K. W. (2012) · Nature Methods · doi:10.1038/nmeth.2089 · Cited by 64,638
A method and server for predicting damaging missense mutations.
Adzhubei, I. A., Schmidt, S., Peshkin, L., Ramensky, V. E., Gerasimova, A., Bork, P., Kondrashov, A. S., & Sunyaev, S. R. (2010) · Nature Methods · doi:10.1038/nmeth0410-248 · Cited by 13,194
ASPM is a major determinant of cerebral cortical size
Bond, J., Roberts, E., Mochida, G. H., Hampshire, D. J., Scott, S., Askham, J. M., Springell, K., Mahadevan, M., Crow, Y. J., Markham, A. F., et al. (2002) · Nature Genetics · doi:10.1038/ng995 · Cited by 581
GenePaint.org: an atlas of gene expression patterns in the mouse embryo
Visel, A. (2004) · Nucleic Acids Research · doi:10.1093/nar/gkh029 · Cited by 528 · cited 1×
“5), and is particularly enriched in the cortical plate where the neurons reside, and is also expressed in the ventricular and sub-ventricular zone layers (VZ and SVZ) lining the ventricles of the cerebral cortex, where neural progenitors reside (Figure S3)(Visel et al., 2004).”
Identification of microcephalin, a protein implicated in determining the size of the human brain
Jackson, A. P., Eastwood, H., Bell, S. M., Adu, J., Toomes, C., Carr, I. M., Roberts, E., Hampshire, D. J., Crow, Y. J., Mighell, A. J., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/341283 · Cited by 482
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Cited by
Asparagine synthetase: Function, structure, and role in disease
Lomelino, C. L., Andring, J. T., McKenna, R., & Kilberg, M. S. (2017) · Journal of Biological Chemistry · doi:10.1074/jbc.r117.819060 · Cited by 308
Yasir, M., Alkhaldy, A. A., Soliman, S. A., Turkistani, S. A., & Azhar, E. I. (2023) · Foods · doi:10.3390/foods12183342 · Cited by 16
Metadata
- Authors
- Ruzzo, E. K., Capo-Chichi, J.-M., Ben-Zeev, B., Chitayat, D., Mao, H., Pappas, A. L., Hitomi, Y., Lu, Y.-F., Yao, X., Hamdan, F. F., Pelak, K., Reznik-Wolf, H., Bar-Joseph, I., Oz-Levi, D., Lev, D., Lerman-Sagie, T., Leshinsky-Silver, E., Anikster, Y., Ben-Asher, E., Olender, T., Colleaux, L., Décarie, J.-C., Blaser, S., Banwell, B., Joshi, R. B., He, X.-P., Patry, L., Silver, R. J., Dobrzeniecka, S., Islam, M. S., Hasnat, A., Samuels, M. E., Aryal, D. K., Rodriguiz, R. M., Jiang, Y.-H., Wetsel, W. C., McNamara, J. O., Rouleau, G. A., Silver, D. L., Lancet, D., Pras, E., Mitchell, G. A., Michaud, J. L., & Goldstein, D. B.
- Venue
- Neuron
- Publisher
- Elsevier BV
- Published
- 2013-10
- Volume
- 80
- Issue
- 2
- Pages
- 429-441
- ISSN
- 0896-6273 (ISSN-L)
- OpenAlex
- W2008218423
- Cited by
- 164
- References
- 6
- FWCI
- 3.48
- Type
- journal article
- Language
- en
- Open access
- hybrid
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- Ruzzo, E. K., Capo-Chichi, J.-M., Ben-Zeev, B., Chitayat, D., Mao, H., Pappas, A. L., Hitomi, Y., Lu, Y.-F., Yao, X., Hamdan, F. F., Pelak, K., Reznik-Wolf, H., Bar-Joseph, I., Oz-Levi, D., Lev, D., Lerman-Sagie, T., Leshinsky-Silver, E., Anikster, Y., Ben-Asher, E., . . . Goldstein, D. B. (2013). Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy. Neuron. https://doi.org/10.1016/j.neuron.2013.08.013
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
