Sanfilippo syndrome type C (mucopolysaccharidosis IIIC) is an early-onset neurodegenerative lysosomal storage disorder, which is currently untreatable. The vast majority of studies focusing on disease mechanisms of Sanfilippo syndrome were performed on non-neural cells or mouse models, which present obvious limitations. Induced pluripotent stem cells (iPSCs) are an efficient way to model human dis

I Att motverka skatteflykt undersöks de rättsliga avvägningar och följande gränsdragningsfrågor som åtföljer införandet av generella åtgärder mot skatteflykt. Studien motiveras av den harmonisering som under senare år skett inom unionsrätten, där antagandet av skatteflyktsdirektivets missbruksregel inneburit en betydande tillnärmning på företagsskatteområdet. Genom att studera och jämföra införlivThis doctoral disseration examines how the structure and function of the European Union’s (EU) newly introduced General Anti-Avoidance Rule (GAAR) affects the concept of tax avoidance in its member states. Through a comparative study of the Swedish and Danish approach to combating corporate tax avoidance, the dissertation focuses on both the pre-existing provisions against tax avoidance and the ru

Exposure to air pollution is associated with adverse health effects in humans, with special concern for exposure to fine particulate matter (PM2.5). The physicochemical properties of aerosols impact the health effects. Considering that we spend approximately 90% of our time indoors, it is important to gain increased understanding of indoor aerosol concentrations and properties. The overall aim of

Sweden is a sparsely populated country with significant hydro, bioenergy, and wind resources. Renewable energy sources currently account for more than 50% of total Swedish use and both electricity production and residential heating are virtually fossil-free. Swedish energy policy can be characterized by the perceived conflict between an ambitious climate policy and the competitiveness of the energ

BACKGROUND: The primary aim was to describe patient-reported morbidity from neurogenic bladder and bowel dysfunction in a cohort of children with spina bifida. The secondary aim was to describe the overall surgical burden in these children.METHODS: Children with meningocele or myelomeningocele, born between 2000-2016, and followed by a tertiary spina bifida center were evaluated in a cross-section

In 2020, the IOC proposed a universal methodology for the recording and reporting of data for injury and illness in sport. Para sport is played by individuals with impairment, and they have a unique set of considerations not captured by these recommendations. Therefore, the aim of this addendum to IOC consensus statement was to guide the Para sport researcher through the complexities and nuances t

This chapter argues that most efforts aimed at using women’s positions relative to climate change will be insufficient if not conducted with great care and analytical sensitivity. It shows that mitigation and adaptation measures of climate change often target women, either as untapped resources for combating climate change or as active and powerful participants in adaptation or mitigation efforts.

This biomechanics study explored stride length (SL), duration (SDN), and gait ground reaction forces (GRFspeak), required coefficient of friction (RCOFpeak), joint angle (anglepeak, anglemin), angular velocities (angvelx peak), angular accelerations (angaccx peak), muscle electromyography (EMG) during the dominant leg stance phase (SP) following an exhaustive stair ascent for evacuation. Data were

This study investigated which methods patients and parents used to determine phenylalanine (Phe) intake and the relationship between the methods applied, age, and blood Phe concentration, as this practice had not been studied before in relation to metabolic control. A questionnaire was sent to 327 Dutch phenylketonuria patients (age 0-29 years) to investigate the method used to determine Phe intak

Amino acids are not only indispensable for protein synthesis but also play important cellular functions. In this chapter, the central nervous system (CNS) functions of serine, glycine, and threonine are discussed. Both the specific functions of the aforementioned amino acids and the functions of their derivatives are reviewed in relation to brain development and neurotransmission. In particular, f

Menkes disease is an X-linked recessive disorder characterized by neurological deterioration, failure to thrive, peculiar hair and death in childhood, secondary to mutations in the ATP7A gene. The ATP7A gene encodes for a copper transporting P-type ATPase (ATP7A), which is ubiquitously expressed. A defect of the ATP7A protein leads to both a reduced transport of copper from the intestine into the

Background: Osteoporosis affects approximately one in five European women and leads to fragility fractures, which result in poor health, social and economic consequences. Fragility fractures are a strong risk factor for subsequent major osteoporotic fracture (MOF), with risk of MOF being elevated in the 1–2 years following an earlier fracture, a concept described as “imminent risk”. This study exa

3-phosphoglycerate dehydrogenase (PHGDH) deficiency is a disorder of L-serine biosynthesis that is characterized by congenital microcephaly, psychomotor retardation, and seizures. To investigate the molecular basis for this disorder, the PHGDH mRNA sequence was characterized, and six patients from four families were analyzed for sequence variations. Five patients from three different families were

Interleukin-15 (IL-15) is a cytokine that has been shown to expand CD8 T cell and natural killer (NK) cell populations, and therefore has potential for potentiating adoptive immune cell therapy for cancer. Previously, IL-15 has been shown to induce proliferation of CD8 memory T cells through activation of telomerase. Here, we investigated whether telomerase is also activated during the IL-15 media

The SRY (sex determining region Y)-box 11 (SOX11) gene, located on chromosome 2p25, encodes for a transcription factor that is involved in tissue remodeling during embryogenesis and is crucial for neurogenesis. The role for SOX11 in hematopoiesis has not yet been defined. Two genes under direct control of SOX11 are the class- III β-tubulin gene (TUBB3) in neural cells and the transcription factor

The natural products pulchrol and pulchral, isolated from the roots of the Mexican plant Bourreria pulchra, have previously been shown to possess an antiparasitic activity toward Trypanosoma cruzi, Leishmania braziliensis and L. amazonensis, protozoa responsible for the Chagas disease and leishmaniasis. These infections have been classified as neglected diseases, and still require the development