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Open AccessSETBP1 induces transcription of a network of development genes by acting as an epigenetic hub
SETBP1 variants occur as somatic mutations in several hematological malignancies such as atypical chronic myeloid leukemia and as de novo germline mutations in the Schinzel–Giedion syndrome. Here we show that ...
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Article
Open AccessProtein misfolding in neurodegenerative diseases: implications and strategies
A hallmark of neurodegenerative proteinopathies is the formation of misfolded protein aggregates that cause cellular toxicity and contribute to cellular proteostatic collapse. Therapeutic options are currently...
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Article
Proteomic Profiling in the Brain of CLN1 Disease Model Reveals Affected Functional Modules
Neuronal ceroid lipofuscinoses (NCL) are the most commonly inherited progressive encephalopathies of childhood. Pathologically, they are characterized by endolysosomal storage with different ultrastructural fe...
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Article
Open AccessThe Arctic AβPP mutation leads to Alzheimer’s disease pathology with highly variable topographic deposition of differentially truncated Aβ
The Arctic mutation (p.E693G/p.E22G)fs within the β-amyloid (Aβ) region of the β-amyloid precursor protein gene causes an autosomal dominant disease with clinical picture of typical Alzheimer’s disease. Here w...
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Article
Engineered droplets for dried droplet solute deposition by mass spectrometric imaging
Solute deposition patterns of peptides are studied on dried droplet deposits from engineered droplet shapes using surface assisted laser desorption ionization mass spectrometric imaging. The engineered droplet...
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Article
Surface assisted laser desorption/ionization on two-layered amorphous silicon coated hybrid nanostructures
Matrix-free laser desorption/ionization was studied on two-layered sample plates consisting of a substrate and a thin film coating. The effect of the substrate material was studied by depositing thin films of ...
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Article
Open Access'Brukin2D': a 2D visualization and comparison tool for LC-MS data
Liquid Chromatography-Mass Spectrometry (LC-MS) is a commonly used technique to resolve complex protein mixtures. Visualization of large data sets produced from LC-MS, namely the chromatogram and the mass spec...
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Article
Sexual function after sacrospinous fixation for vaginal vault prolapse: bad or mad?
The main indication for sacrospinous ligament suspension is to correct either total procidentia, a posthysterectomy vaginal vault prolapse with an associated weak cardinal uterosacral ligament complex, or a po...
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Article
Prematurity Is Related to High Placental Cortisol in Preeclampsia
Fetal growth is compromised in animal models with high cortisol availability. In healthy pregnancies, the fetus is protected from high circulating cortisol levels by the placental 11β-hydroxysteroid dehydrogen...
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Article
Open AccessProteome Analysis of Cultivated Vascular Smooth Muscle Cells from a CADASIL Patient
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a vascular dementing disease caused by mutations in the NOTCH3 gene, most which are missense mutations leadi...
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Article
Phosphorylation of a Peptide Related to Subunit c of the F0F1-ATPase/ATP Synthase and Relationship to Permeability Transition Pore Opening in Mitochondria
A phosphorylated polypeptide (ScIRP) from the inner membrane of rat liver mitochondria with an apparent molecular mass of 3.5 kDa was found to be immunoreactive with specific antibodies against subunit c of F0F1-...
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Article
Sphingolipid activator proteins in the neuronal ceroid-lipofuscinoses: an immunological study
The molecular defects underlying neuronal ceroid-lipofuscinoses (NCL) are still unknown. However, more data exist on the composition of the hydrophobic storage material characteristic of NCL. Accumulation of s...
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Article
Purification of the channel component of the mitochondrial calcium uniporter and its reconstitution into planar lipid bilayers
The purification of the channel-forming component of the mitochondrial calcium uniporter and its channel properties are described. After ethanol and 50% ethanol-water extraction of mitochondria from beef heart...
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Article
The design of a micropreparative gel electrophoresis system: A simple microapparatus for rapid polyacrylamide gel electrophoresis analyses and optimized sequencer reaction cartridges made of teflon