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  1. Article

    Open Access

    SETBP1 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 ...

    Rocco Piazza, Vera Magistroni, Sara Redaelli, Mario Mauri in Nature Communications (2018)

  2. Article

    Open Access

    Protein 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...

    Patrick Sweeney, Hyunsun Park, Marc Baumann, John Dunlop in Translational Neurodegeneration (2017)

  3. No Access

    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...

    Saara Tikka, Evanthia Monogioudi, Athanasios Gotsopoulos in NeuroMolecular Medicine (2016)

  4. No Access

    Chapter and Conference Paper

    Notch Signaling and Ageing

    Notch signaling is a master controller of the neural stem cell and neural development maintaining a significant role in the normal brain function. Notch genes are involved in embryogenesis, nervous system, and...

    Eleftheria Polychronidou, Dimitrios Vlachakis, Panayiotis Vlamos in GeNeDis 2014 (2015)

  5. No Access

    Protocol

    MALDI-Imaging Mass Spectrometry on Tissues

    Matrix-assisted laser desorption ionization time-of-flight (MALDI-TOF)—profiling and imaging mass spectrometry (MSI) are promising technologies for measuring hundreds of different molecules directly on tissues...

    Veronica Mainini, Maciej Lalowski, Athanasios Gotsopoulos in Clinical Proteomics (2015)

  6. Article

    Open Access

    The 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...

    Hannu Kalimo, Maciej Lalowski, Nenad Bogdanovic in Acta Neuropathologica Communications (2013)

  7. No Access

    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...

    Ville Jokinen, Sami Franssila, Marc Baumann in Microfluidics and Nanofluidics (2011)

  8. 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 ...

    Ville Jokinen, Susanna Aura in Journal of the American Society for Mass S… (2009)

  9. 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...

    Dimosthenis Tsagkrasoulis, Panagiotis Zerefos, George Loudos in BMC Bioinformatics (2009)

  10. No Access

    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...

    Marc Baumann, Claudia Salvisberg, Michel Mueller, Annette Kuhn in Surgical Endoscopy (2009)

  11. 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...

    Myriam Aufdenblatten, Marc Baumann, Luigi Raio, Bernhard Dick in Pediatric Research (2009)

  12. Article

    Open Access

    Proteome 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...

    Saara Ihalainen, Rabah Soliymani, Erika Iivanainen, Kati Mykkänen in Molecular Medicine (2007)

  13. No Access

    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-...

    Tamara S. Azarashvili, Jaana Tyynelä in Journal of Bioenergetics and Biomembranes (2002)

  14. No Access

    Chapter and Conference Paper

    Modified Porous Silicon Surfaces as DIOS-MS Sample Plates

    This study presents a novel porous silicon (pSi) fabrication method for the matrix-free desorption/ionization on silicon mass spectrometry (DIOS-MS). The fabrication conditions and surface treatments of pSi on...

    Santeri Tuomikoski, Katri Huikko, Pekka Östman in Micro Total Analysis Systems 2002 (2002)

  15. No Access

    Chapter

    HB-GAM, a Novel Amyloid Associated Protein, is Present in Prion Related Disorders and other Cerebral Amyloidoses

    The amyloidoses form a collection of diseases sharing several common properties including the deposition of a protein, which has a soluble precursor, as a fibril with a predominantly β-pleated secondary struct...

    Maciej M. Lalowski, Marc Baumann in Progress in Alzheimer’s and Parkinson’s Di… (1998)

  16. No Access

    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...

    Jaana Tyynelä, Marc Baumann, Margarete Henseler, Konrad Sandhoff in Acta Neuropathologica (1995)

  17. No Access

    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...

    Galina D. Mironova, Marc Baumann in Journal of Bioenergetics and Biomembranes (1994)

  18. No Access

    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

    Marc Baumann in Journal of Protein Chemistry (1992)