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  1. No Access

    Article

    Clinical and biochemical correlates of insoluble α-synuclein in dementia with Lewy bodies

    α-Synuclein is a major constituent of Lewy bodies, the fibrillar aggregates that form within neurons in Parkinson’s disease and dementia with Lewy bodies (DLB). Recent biochemical data show that α-synuclein ac...

    Jochen Klucken, Martin Ingelsson, Youngah Shin in Acta Neuropathologica (2006)

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    Article

    No alteration in tau exon 10 alternative splicing in tangle-bearing neurons of the Alzheimer’s disease brain

    Defective splicing of tau mRNA, promoting a shift between tau isoforms with (4R tau) and without (3R tau) exon 10, is believed to be a pathological consequence of certain tau mutations causing frontotemporal d...

    Martin Ingelsson, Karunya Ramasamy, Ippolita Cantuti-Castelvetri in Acta Neuropathologica (2006)

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    Article

    Association study of cholesterol-related genes in Alzheimer’s disease

    Alzheimer’s disease (AD) is a genetically complex disorder, and several genes related to cholesterol metabolism have been reported to contribute to AD risk. To identify further AD susceptibility genes, we have...

    M. Axel Wollmer, Kristel Sleegers, Martin Ingelsson, Cezary Zekanowski in Neurogenetics (2007)

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    Article

    Increase in the relative expression of tau with four microtubule binding repeat regions in frontotemporal lobar degeneration and progressive supranuclear palsy brains

    Some cases of familial frontotemporal dementia (FTD) leading to frontotemporal lobar degeneration (FTLD) are caused by mutations in tau on chromosome 17 (FTDP-17). Certain mutations alter the ratio between four (...

    Martin Ingelsson, Karunya Ramasamy, Carsten Russ in Acta Neuropathologica (2007)

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    Article

    Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation

    Mutations in the progranulin (PGRN) gene have recently been identified in families with frontotemporal lobar degeneration and ubiquitin-positive brain inclusions linked to chromosome 17q21. We have previously des...

    Lena Skoglund, RoseMarie Brundin, Tommie Olofsson, Hannu Kalimo in neurogenetics (2009)

  6. Article

    Open Access

    Pyroglutamate Abeta pathology in APP/PS1KI mice, sporadic and familial Alzheimer’s disease cases

    The presence of AβpE3 (N-terminal truncated Aβ starting with pyroglutamate) in Alzheimer’s disease (AD) has received considerable attention since the discovery that this peptide represents a dominant fraction of ...

    Oliver Wirths, Tobias Bethge, Andrea Marcello in Journal of Neural Transmission (2010)

  7. Article

    Open Access

    N-truncated Abeta starting with position four: early intraneuronal accumulation and rescue of toxicity using NT4X-167, a novel monoclonal antibody

    The amyloid hypothesis in Alzheimer disease (AD) considers amyloid β peptide (Aβ) deposition causative in triggering down-stream events like neurofibrillary tangles, cell loss, vascular damage and memory decli...

    Gregory Antonios, Nasrin Saiepour, Yvonne Bouter in Acta Neuropathologica Communications (2013)

  8. 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)

  9. No Access

    Article

    Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease

    Philippe Amouyel, Julie Williams, Gerard Schellenberg, Sudha Seshadri and colleagues report a meta-analysis of genome-wide association studies for late-onset Alzheimer's disease in 17,008 cases and 37,154 cont...

    Jean-Charles Lambert, Carla A Ibrahim-Verbaas, Denise Harold, Adam C Naj in Nature Genetics (2013)

  10. Article

    Open Access

    Abundance of Aβ5-xlike immunoreactivity in transgenic 5XFAD, APP/PS1KI and 3xTG mice, sporadic and familial Alzheimer’s disease

    According to the modified amyloid hypothesis the main event in the pathogenesis of Alzheimer’s disease (AD) is the deposition of neurotoxic amyloid β-peptide (Aβ) within neurons. Additionally to full-length pe...

    Erika Avendaño Guzmán, Yvonne Bouter, Bernhard C Richard in Molecular Neurodegeneration (2014)

  11. No Access

    Article

    Micellar extraction possesses a new advantage for the analysis of Alzheimer’s disease brain proteome

    Integral membrane proteins (MPs), such as transporters, receptors, and ion channels, are of great interest because of their participation in various vital cellular functions including cell–cell interactions, i...

    Sravani Musunuri, Kim Kultima in Analytical and Bioanalytical Chemistry (2015)

  12. Article

    Open Access

    Deposition of C-terminally truncated Aβ species Aβ37 and Aβ39 in Alzheimer’s disease and transgenic mouse models

    In Alzheimer’s disease (AD) a variety of amyloid β-peptides (Aβ) are deposited in the form of extracellular diffuse and neuritic plaques (NP), as well as within the vasculature. The generation of Aβ from its p...

    Jochim Reinert, Bernhard C. Richard, Hans W. Klafki in Acta Neuropathologica Communications (2016)

  13. No Access

    Article

    α-Synuclein in Extracellular Vesicles: Functional Implications and Diagnostic Opportunities

    Fibrillar inclusions of intraneuronal α-synuclein can be detected in certain brain areas from patients with Parkinson’s disease (PD) and other disorders with Lewy body pathology. These insoluble protein aggreg...

    Camilla Lööv, Clemens R. Scherzer, Bradley T. Hyman in Cellular and Molecular Neurobiology (2016)

  14. Article

    Open Access

    High tau levels in cerebrospinal fluid predict nursing home placement and rapid progression in Alzheimer’s disease

    Increased concentrations of cerebrospinal fluid (CSF) total tau (t-tau) and phosphorylated tau, as well as decreased amyloid-β 42 peptide, are biomarkers of Alzheimer’s disease (AD) pathology, but few studies ...

    Malin Degerman Gunnarsson, Martin Ingelsson, Kaj Blennow in Alzheimer's Research & Therapy (2016)

  15. No Access

    Article

    Cellular Uptake of α-Synuclein Oligomer-Selective Antibodies is Enhanced by the Extracellular Presence of α-Synuclein and Mediated via Fcγ Receptors

    Immunotherapy targeting aggregated α-synuclein has emerged as a potential treatment strategy against Parkinson’s disease and other α-synucleinopathies. We have developed α-synuclein oligomer/protofibril select...

    Gabriel Gustafsson, Fredrik Eriksson in Cellular and Molecular Neurobiology (2017)

  16. No Access

    Article

    Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

    Sven van der Lee, Julie Williams, Gerard Schellenberg and colleagues identify rare coding variants in PLCG2, ABI3 and TREM2 associated with Alzheimer's disease. These genes are highly expressed in microglia and p...

    Rebecca Sims, Sven J van der Lee, Adam C Naj, Céline Bellenguez in Nature Genetics (2017)

  17. Article

    Open Access

    Map** of Surface-Exposed Epitopes of In Vitro and In Vivo Aggregated Species of Alpha-Synuclein

    Aggregated alpha-synuclein is the main component of Lewy bodies, intraneuronal deposits observed in Parkinson’s disease and dementia with Lewy bodies. The objective of the study was to identify surface-exposed...

    Leire Almandoz-Gil, Veronica Lindström in Cellular and Molecular Neurobiology (2017)

  18. Article

    Open Access

    Alpha-synuclein oligomer-selective antibodies reduce intracellular accumulation and mitochondrial impairment in alpha-synuclein exposed astrocytes

    Due to its neurotoxic properties, oligomeric alpha-synuclein (α-syn) has been suggested as an attractive target for passive immunization against Parkinson’s disease (PD). In mouse models of PD, antibody treatm...

    Gabriel Gustafsson, Veronica Lindström, **ar Rostami in Journal of Neuroinflammation (2017)

  19. No Access

    Article

    Refining the accuracy of validated target identification through coding variant fine-map** in type 2 diabetes

    We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls of diverse ancestry, identifying 40 coding variant association signals (P < 2.2 × 10−7); of these, 16 map outside known risk...

    Anubha Mahajan, Jennifer Wessel, Sara M. Willems, Wei Zhao in Nature Genetics (2018)

  20. Article

    Open Access

    Efficient clearance of Aβ protofibrils in AβPP-transgenic mice treated with a brain-penetrating bifunctional antibody

    Amyloid-β (Aβ) immunotherapy is one of the most promising disease-modifying strategies for Alzheimer’s disease (AD). Despite recent progress targeting aggregated forms of Aβ, low antibody brain penetrance rema...

    Stina Syvänen, Greta Hultqvist, Tobias Gustavsson in Alzheimer's Research & Therapy (2018)

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