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“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 selleck products 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.”
“The cellular form of the prion protein (PrPC) has been detected in many tissues including reproductive tissues. While its function is unclear, it has been suggested to act as a receptor for an unidentified ligand and/or as an antioxidant agent. We tested the hypothesis that PrPC is differentially

expressed in dominant, growing, compared to subordinate bovine ovarian follicles. Using both microarray analysis and quantitative real-time PCR, the level of prion https://www.selleckchem.com/products/ly3023414.html protein mRNA (Prnp) in both theca and granulosa cells was measured. We found that levels of Prnp were significantly higher in the theca cells of dominant compared to subordinate follicles but similar among granulosa cells from different follicles. This difference was apparent immediately after selection of the dominant follicle and continued to the dominance stage of the follicle wave. Levels of the protein for PrPC were also higher (P < 0.05) in theca cells of dominant compared to subordinate follicles. In conclusion, elevated PrPC was associated with ovarian follicle growth and development and we suggest that it may play a role in the success of follicle development.