39 research outputs found

    DIA1R Is an X-Linked Gene Related to Deleted In Autism-1

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    Background: Autism spectrum disorders (ASDs) are frequently occurring disorders diagnosed by deficits in three core functional areas: social skills, communication, and behaviours and/or interests. Mental retardation frequently accompanies the most severe forms of ASDs, while overall ASDs are more commonly diagnosed in males. Most ASDs have a genetic origin and one gene recently implicated in the etiology of autism is the Deleted-In-Autism-1 (DIA1) gene. Methodology/Principal Findings: Using a bioinformatics-based approach, we have identified a human gene closely related to DIA1, we term DIA1R (DIA1-Related). While DIA1 is autosomal (chromosome 3, position 3q24), DIA1R localizes to the X chromosome at position Xp11.3 and is known to escape X-inactivation. The gene products are of similar size, with DIA1 encoding 430, and DIA1R 433, residues. At the amino acid level, DIA1 and DIA1R are 62 % similar overall (28 % identical), and both encode signal peptides for targeting to the secretory pathway. Both genes are ubiquitously expressed, including in fetal and adult brain tissue. Conclusions/Significance: Examination of published literature revealed point mutations in DIA1R are associated with X-linked mental retardation (XLMR) and DIA1R deletion is associated with syndromes with ASD-like traits and/or XLMR. Together, these results support a model where the DIA1 and DIA1R gene products regulate molecular traffic through the cellular secretory pathway or affect the function of secreted factors, and functional deficits cause disorders with ASD-lik

    Impact of physical and enzymatic cell wall opening on the release of pre-gelatinized starch and viscosity forming potential of potato flakes

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    Potato flakes (PFs) are used in instant foods. They contain pre-gelatinized starch which readily develops viscosity upon hydration. We here provide the first report on factors influencing their viscosifying potential. Swelling power (SP) (r = 0.719, p < 0.01) and mean particle size (r = -0.704, p < 0.05) mainly determine instant viscosity development of PF suspensions while short extractable extracellular amylose molecules [degree of polymerization between 150 and 1500 (EE-AM150-1500)] positively impact their cold paste viscosity (CPV) (r = 0.717, p < 0.01) in Rapid Visco Analyzer (RVA) models. Cell wall opening by ball milling or cellulase treatments increased PF SP resulting in up to 75% higher RVA peak viscosity readings. Furthermore, the release of EE-AM150-1500 molecules increased CPV by about 30% since they readily associated upon cooling. Partial cell wall opening thus improves the viscosifying potential of PFs and expands their applicability in instant foods.status: publishe

    Regioselective etherification of b-citronellene catalyzed by zeolite beta

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    The etherification of beta-citronellene with bioalcohols over zeolite beta was performed in a continuous flow liquid phase reactor. At 80 degrees C, the catalyst exhibits 50% beta-citronellene conversion with a high selectivity for the etherification reaction. High chemoselectivity (90%) at the beta-double bond of beta-citronellene was observed, while beta-citronellene isomers were formed as minor products. In order to rationalize the observed chemoselectivity, the relative stabilities of the protonated reaction intermediates were estimated using theoretical calculations. The zeolite beta catalyst exhibits high stability as well as low coke formation. Considering the industrial importance of terpene ethers as sophisticated solvents, fragrance or flavor additives, a novel and environmentally friendly synthesis is presented as an alternative to homogeneous catalysis using strong Bronsted or Lewis acids in solution

    Selective etherification of beta-citronellene catalyzed by zeolite beta

    No full text
    The etherification of beta-citronellene with bioalcohols over zeolite beta was performed in a continuous flow liquid phase reactor. At 80 degrees C, the catalyst exhibits 50% beta-citronellene conversion with a high selectivity for the etherification reaction. High chemoselectivity (90%) at the beta-double bond of beta-citronellene was observed, while beta-citronellene isomers were formed as minor products. In order to rationalize the observed chemoselectivity, the relative stabilities of the protonated reaction intermediates were estimated using theoretical calculations. The zeolite beta catalyst exhibits high stability as well as low coke formation. Considering the industrial importance of terpene ethers as sophisticated solvents, fragrance or flavor additives, a novel and environmentally friendly synthesis is presented as an alternative to homogeneous catalysis using strong Bronsted or Lewis acids in solution
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