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Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development
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
Stepping stones in a learning journey as university teacher
Att motverka skatteflykt : En komparativ studie av generella åtgärder mot skatteflykt i Sverige och Danmark i ljuset av skatteflyktsdirektivets allmänna regel mot missbruk
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
Cookstoves, Candles, and Phthalates – Real Time Physicochemical Characterization and Human Exposure to Indoor Aerosols
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
Energy Governance in Sweden
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
Patient-Reported Outcomes of Bladder and Bowel Control in Children with Spina Bifida
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
Para sport translation of the IOC consensus on recording and reporting of data for injury and illness in sport
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
Women as agents of change? : Reflections on Women in climate adaptation and mitigation in the Global North and South
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.
Marker assisted selection in Brassica oleracea
Effects of leg fatigue due to exhaustive stair climbing on gait biomechanics while walking up a 10˚ incline – implications for evacuation and work safety
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
A Survey of Natural Protein Intake in Dutch Phenylketonuria Patients : Insight into Estimation or Measurement of Dietary Intake
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
Serine, glycine, and threonine
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
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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
Medicinsk rätt : En lärobok
Risk of major osteoporotic fracture after first, second and third fracture in Swedish women aged 50 years and older
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
Molecular characterization of 3-phosphoglycerate dehydrogenase deficiency - A neurometabolic disorder associated with reduced L-serine biosynthesis
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
IL-15 Upregulates Telomerase Expression and Potently Increases Proliferative Capacity of NK, NKT-Like, and CD8 T Cells
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
Gene expression profiling and chromatin immunoprecipitation identify DBN1, SETMAR and HIG2 as direct targets of SOX11 in mantle cell lymphoma
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
SARs for the antiparasitic plant metabolite pulchrol. : 3. Combinations of new substituents in A/B-rings and A/C-rings
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