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Congenital Microcephaly: A Debate on Diagnostic Challenges and Etiological Paradigm of the Shift from Isolated/Non-Syndromic to Syndromic Microcephaly
2023
Congenital microcephaly (CM) exhibits broad clinical and genetic heterogeneity and is thus categorized into several subtypes. However, the recent bloom of disease–gene discoveries has revealed more overlaps than differences in the underlying genetic architecture for these clinical sub-categories, complicating the differential diagnosis. Moreover, the mechanism of the paradigm shift from a brain-restricted to a multi-organ phenotype is only vaguely understood. This review article highlights the critical factors considered while defining CM subtypes. It also presents possible arguments on long-standing questions of the brain-specific nature of CM caused by a dysfunction of the ubiquitously expressed proteins. We argue that brain-specific splicing events and organ-restricted protein expression may contribute in part to disparate clinical manifestations. We also highlight the role of genetic modifiers and de novo variants in the multi-organ phenotype of CM and emphasize their consideration in molecular characterization. This review thus attempts to expand our understanding of the phenotypic and etiological variability in CM and invites the development of more comprehensive guidelines.
Journal Article
Physicochemical properties of soy protein isolates-acacia gum conjugates
by
Zhao, H.,South China Univ. of Technology, Guangzhou (China). Coll. of Light Industry and Food Sciences
,
Cui, C.,South China Univ. of Technology, Guangzhou (China). Coll. of Light Industry and Food Sciences
,
Mu, L.,South China Univ. of Technology, Guangzhou (China). Coll. of Light Industry and Food Sciences
in
ACACIA
,
acacia gum (ga)
,
ADDITIF ALIMENTAIRE
2011
Protein-polysaccharide conjugates were generally prepared by dry-heating. However, it was time-consuming and the sample gained was inhomogeneous. A faster way of preparing protein-polysaccharide conjugates is needed. Accordingly, soy protein isolates (SPI)-acacia gum (GA) conjugates prepared by the wet-heating method were studied in the present work. Physicochemical properties of SPI-GA conjugates were also determined. The results showed that the wet-heating method could improve the rate of the graft reaction of protein and polysaccharide. The solubility of SPI-GA conjugates was significantly higher than that of unreacted SPI-GA mixtures and SPI at the same pH values. The emulsion activity index of the grafted SPI increased remarkably. Moreover, a significant improvement of the emulsifying stability index was observed and emulsions with a smaller droplet size were obtained. No visible flocculation during extended storage (30 days) was observed. The time course of the development of the graft reaction of SPI with GA was also shown by SDS-PAGE.
Journal Article
Microwave-assisted phosphorylation of soybean protein isolates and their physicochemical properties
by
Chi, Y.J., Northeast Agricultural Univ., Harbin (China). Coll. of Food Science
,
Wang, X.B., Northeast Agricultural Univ., Harbin (China). Coll. of Food Science
in
AISLADO DE PROTEINAS
,
ALIMENT SANTE POUR HOMME
,
ALIMENTOS SANOS
2012
In order to improve the functional properties of soybean protein isolates (SPI), microwave-assisted phosphorylation (MAP) was applied. The results showed that after microwaving at 600 W for 3 min, the phosphorylation level of SPI reached 35.72 mg/g, emulsifying activity and stability were increased 2 times and 1.4 times, respectively, the solubility was increased by 26.0% and the apparent viscosity was decreased by 13.5%. The charge density, content of sulfhydryl groups, and surface hydrophobicity increased significantly. The infra-red spectroscopic analysis indicated PO4**3- primary and lysine residues for phosphoric acid esterification. The change of amide bond Ι and fluorescence spectrum of variation suggested that the MAP made the secondary and tertiary structures of SPI into a compact conformation. Compared to the regular phosphorylation, the preparation time applied in MAP of SPI was much shorter. These results indicated that MAP can be used as an efficient method to improve the functional properties of SPI.
Journal Article
Effects of flour and protein preparations from amaranth and quinoa seeds on the rheological properties of wheat-flour dough and bread crumb
by
Gyenge, L.,Budapest Univ. of Technology and Economics (Hungary). Dept. of Applied Biotechnology and Food Science
,
Pelceder, A.,Budapest Univ. of Technology and Economics (Hungary). Dept. of Applied Biotechnology and Food Science
,
Schoenlechner, R.,University of Natural Resources and Applied Life Sciences, Vienna (Austria). Dept. of Food Science and Technology
in
ABSORCION
,
ABSORPTION
,
AGUA
2011
The effects of amaranth and quinoa flours and protein isolates prepared from amaranth and quinoa seeds on the rheological properties of wheat flour dough and bread were studied using new recording instruments, the micro Z-arm mixer (for dough) and the SMS-Texture analyser (for bread crumb). The addition of 10% amaranth or quinoa flours did not cause significant changes in rheological properties. However, higher additions (20% and 30%) resulted in significant changes in stability, the degree of softening and elasticity. Substitution of wheat flour by amaranth or quinoa flours resulted in an increase of water absorption capacity. A significant reduction of specific volume and an increase of resistance to deformation (firmness) of the crumb of breads prepared from flour mixtures containing high percentages of amaranth or quinoa flours was observed. The addition of protein isolates did not significantly influence the main rheological characteristics of dough and bread crumb.
Journal Article
Effect of storage on texture and microbiological stability of o-w emulsions with inulin
by
Kordowska-Wiater, M.,University of Life Sciences, Lublin (Poland). Dept. of Biotechnology
,
Glibowski, P.,University of Life Sciences, Lublin (Poland). Dept. of Milk Technology and Hydrocolloids
,
Glibowska, A.,University of Life Sciences, Lublin (Poland). Dept. of Biotechnology
in
ACEITE DE COLZA
,
ADHESIVIDAD
,
ADHESIVITE
2011
The aim of this study was to characterise the effect of storage at 8 deg C on the texture and microbiological stability of oil-in-water solid emulsions containing inulin (20% w/w) and rapeseed oil (20% w/w). The samples were analysed within 24 h from the production and after 7, 14, 28, 42, and 56 days of storage. Whey protein isolate (3% w/w) or polyglycerol polyricinoleate (1% w/w) were used as emulsifiers and half of the samples were chemically preserved with potassium sorbate (0.2% w/w). Hardness, adhesiveness, and cohesiveness did not change significantly during storage. Most of the samples were microbiologically stable. Only the application of the protein emulsifier had an effect on the intensive growth of microorganisms. The shelf-life of low-fat chemically preserved products based on inulin can be established to be two months. Chemical preservation of the products with non-protein emulsifiers is not necessary. Sensory evaluation of spreads containing inulin revealed a significant decrease in smoothness and meltability in the mouth and good spreadability comparable with commercial products without inulin.
Journal Article
Functional Properties of Edible Films Using Whey Protein Concentrate
by
Chen, H
,
Banerjee, R
1995
Journal Article
Lupin composition and possible use in bakery - a review
by
Karovicova, J.,Slovenska Technicka Univ., Bratislava (Slovak Republic). Oddelenie Biochemickej a Potravinarskej Technologie
,
Kohajdova, Z.,Slovenska Technicka Univ., Bratislava (Slovak Republic). Oddelenie Biochemickej a Potravinarskej Technologie
,
Schmidt, S.,Slovenska Technicka Univ., Bratislava (Slovak Republic). Oddelenie Biochemickej a Potravinarskej Technologie
in
ACIDE AMINE
,
ACIDE GRAS
,
ACIDOS GRASOS
2011
Legume seeds are an abundant source of proteins and, among them, lupin is one of the richest. Lupin seed deserves great interest due to its chemical composition and augmented availability in many countries in recent years. The review reports on the current knowledge about nutritional characteristics (proteins, amino acids, starch, sugars, fiber, lipids, fatty acids, vitamins, antinutritional compounds) and potential use of different lupin seed products (flour, kernel fiber, protein isolates and concentrates) for baking applications. The influence of lupin addition on the rheological properties of dough and quality of final products are also described. A separate part of the article is focused on the foaming and emulsifying properties of lupin proteins.
Journal Article
Helgoland (Deutschland): Hämogenetische Untersuchung einer Inselpopulation
by
Scheil, H.-G
,
Winkelbauer, Susanne
,
Schmidt, H. D
in
Haemogenetic study
,
Helgoland (Deutschland)
,
Helgoland (Germany)
2001
Bis zu 80 Individuen einer Stichprobe von der Insel Helgoland (Deutschland) wurden in 24 hämogenetischen Systemen untersucht (5 Erythrocyten-Antigensysteme, 6 Serumprotein-Polymorphismen, 12 Enzym-Polymorphismen der Erythrocyten). In der Clusteranalyse setzt sich die Helgoländer Stichprobe von benachbarten Bevölkerungen wie auch von europäischen Standarddaten deutlich ab. Diese Sonderstellung wird teilweise als im Laufe der Zeit entwickelte genetische Besonderheit, teilweise als Folge von Gendrift interpretiert.
Journal Article
Anaphylaxie: Risikoeinschätzung der veganen Lebensmittel
2021
Der Artikel beleuchtet das mögliche Anaphylaxie-Risiko verschiedener veganer Lebensmittel unter besonderer Betrachtung ihres Proteingehalts. Allergologisch ist die Kenntnis über mögliche Verwendungsarten von Proteinisolaten und deren Vielfalt von Vorteil. Anhand der Bewertung veganer Produkte gibt dieser Artikel einen ersten Einblick in die Vielschichtigkeit der Zutaten und versucht ein mögliches allergologisches Risiko abzuleiten.
Journal Article