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Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics

Three-phosphoglycerate dehydrogenase (3- PGDH) deficiency is a rare recessive inborn error in the biosynthesis of the amino acid L-serine characterized clinically by congenital microcephaly, psychomotor retardation, and intractable seizures. The biochemical abnormalities associated with this disorder are low concentrations of L-serine, D-serine, and glycine in cerebrospinal fluid (CSF). Only two m

Genetic mechanisms for stroke in young adults. A clinical perspective.

A range of cardiovascular risk factors associated with stroke are known, but they do not explain all cases of stroke. Genetic factors can be responsible for certain forms of stroke, and are further investigated in this thesis. The aims of this thesis were to study the occurrence of familial clustering of stroke, compile known stroke-associated genetic conditions for diagnostic and research genetic

Constraints on Earth System Functioning at the Paleocene-Eocene Thermal Maximum From the Marine Silicon Cycle

The Paleocene-Eocene Thermal Maximum (PETM, ca. 56 Ma) is marked by a negative carbon isotope excursion (CIE) and increased global temperatures. The CIE is thought to result from the release of 13C-depleted carbon, although the source(s) of carbon and triggers for its release, its rate of release, and the mechanisms by which the Earth system recovered are all debated. Many of the proposed mechanis

Characterisation of microbial communities for improved management of anaerobic digestion of food waste

Anaerobic digestion of food waste is an attractive and increasingly popular technology within waste management and energy recovery. A better understanding of the microbiology associated with anaerobic digestion of food waste will provide new insight into the operational conditions required for optimizing this process, as well as its potential for utilisation in co-digestion systems. Eighteen full-

Influence of boundary layer dynamics and isoprene chemistry on the organic aerosol budget in a tropical forest

We study the organic aerosol (OA) budget in a tropical forest by analyzing a case that is representative for the OP3 campaign at Borneo. A model is designed that combines the essential dynamical and chemical processes that drive the diurnal evolution of reactants in the atmospheric boundary layer (BL). In this way, the model simultaneously represents the effects and interactions of various dynamic

Pathogen suppression by microbial volatile organic compounds in soils

There is increasing evidence that microbial volatile organic compounds (mVOCs) play an important role in interactions between microbes in soils. In this minireview, we zoom in on the possible role of mVOCs in the suppression of plant-pathogenic soil fungi. In particular, we have screened the literature to see what the actual evidence is that mVOCs in soil atmospheres can contribute to pathogen sup

Crystal Structure of an Ammonia-Permeable Aquaporin

Aquaporins of the TIP subfamily (Tonoplast Intrinsic Proteins) have been suggested to facilitate permeation of water and ammonia across the vacuolar membrane of plants, allowing the vacuole to efficiently sequester ammonium ions and counteract cytosolic fluctuations of ammonia. Here, we report the structure determined at 1.18 Å resolution from twinned crystals of Arabidopsis thaliana aquaporin AtT

Dietary patterns, nutritional profile, and body mass index in Mexican schoolchildren : A cross-sectional study

Childhood obesity is a serious public health problem in Mexico. In this study, childhoodspecific dietary patterns and their relationship with overweight-obesity prevalence, nutrient profiles and types of foods consumed were studied. A descriptive cross-sectional study of 724 randomly selected schoolchildren between 9 to 12 years old from Nayarit State, Mexico was performed. Data on anthropometric

Multimodal-first or pantomime-first? : Communicating events through pantomime with and without vocalization

A persistent controversy in language evolution research has been whether language emerged in the gestural-visual or in the vocal-auditory modality. A "dialectic" solution to this age-old debate has now been gaining ground: language was fully multimodal from the start, and remains so to this day. In this paper, we show this solution to be too simplistic and outline a more specific theoretical propo

Denial outperforms apology in repairing organizational trust despite strong evidence of guilt

Previous work in the areas of organizational trust repair and crisis communication has provided conflicting answers to the question of whether denial can be more effective than apology in repairing stakeholder trust in a company following an integrity-based violation. This article reportsthe results of an experiment designed to (i) test the effects of these two strategies on individuals’ trust in

Is Obesity More Than a Double Burden among People with Mobility Disability? : The Effect of Obesity on HRQoL and Participation in Society

Obesity is more common in individuals with mobility disability than in those without this condition. Individuals with mobility disability also have lower health-related quality of life (HRQoL) and are limited in their participation in society. Therefore, this study aimed to investigate the body mass index (BMI) status and the association of overweight or obesity on HRQoL and participation in socie

Habitat partitioning during character displacement between the sexes

Ecological differences between the sexes are often interpreted as evidence of within-species ecological character displacement (ECD), a hypothesis with almost no direct tests. Here, we experimentally test two predictions that are direct corollaries of ECD between the sexes, in a salamander. First, we find support for the prediction that each sex has a growth rate advantage in the aquatic microhabi

Functional, structural and evolutionary studies on a family of bacterial surface proteins

Popular Abstract in Swedish Hos människan lever en rad mikroorganismer som tillsammans utgör normalfloran. Normalfloran återfinns på alla kroppsytor, det vill säga huden och slemhinnorna i munnen, svalget, magsäcken, tunn- och tjocktarmen, vagina och urinrörsmynningen. Samspelet mellan människokroppen och mikroorganismerna utsätts dagligen för påfrestningar. En sådan naturlig påfrestning är de sjuThis thesis is concerned with a family of bacterial surface proteins expressed by different strains of the anaerobic Gram-positive, commensal and human pathogen Peptostreptococcus magnus. These proteins have been studied with respect to their role in virulence, function, structure, and evolution. Strains isolated from patients with vaginosis have previously been shown to be associated with express

Key aspects of free and open source enterprise resource planning systems

This chapter introduces basic differences between Free/Open Source Enterprise Resources Planning systems (FOS-ERP) and Proprietary ERP (P-ERP), revisiting the previous work of Carvalho (2008). Taking into account that some years has passed and the economic downturn came, it updates key aspects of FOS-ERP under both vendor and adopter perspectives. Like its predecessor, this chapter contributes to

Visualization of lipid directed dynamics of perilipin 1 in human primary adipocytes

Perilipin 1 is a lipid droplet coating protein known to regulate lipid metabolism in adipocytes by serving as a physical barrier as well as a recruitment site for lipases to the lipid droplet. Phosphorylation of perilipin 1 by protein kinase A rapidly initiates lipolysis, but the detailed mechanism on how perilipin 1 controls lipolysis is unknown. Here, we identify specific lipid binding propertie

Modeling the growth rates of potential forestry species in Rwanda: a tree structural traits-based approach

Forest plantations play a crucial role in the livelihoods of Rwandan people. They provide valuable wood resources, such as timber and biomass energy. The first plantations created in the colonial period from 1920 to 1948 contained only exotic Eucalyptus species, which is thought to out-perform native species in terms of more rapid wood production. Over time, this resulted in the domination of non-