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  1. Article

    Open Access

    Specific Mutations in the Cholesterol-Binding Site of APP Alter Its Processing and Favor the Production of Shorter, Less Toxic Aβ Peptides

    Excess brain cholesterol is strongly implicated in the pathogenesis of Alzheimer’s disease (AD). Here we evaluated how the presence of a cholesterol-binding site (CBS) in the transmembrane and juxtamembrane re...

    Linda Hanbouch, Béatrice Schaack, Amal Kasri, Gaëlle Fontaine in Molecular Neurobiology (2022)

  2. Article

    Open Access

    Quantification of SNAP-25 with mass spectrometry and Simoa: a method comparison in Alzheimer’s disease

    Synaptic dysfunction and degeneration are central to Alzheimer’s disease (AD) and have been found to correlate strongly with cognitive decline. Thus, studying cerebrospinal fluid (CSF) biomarkers reflecting sy...

    Johanna Nilsson, Nicholas J. Ashton, Andrea L. Benedet in Alzheimer's Research & Therapy (2022)

  3. Article

    Open Access

    Prediction of Outcome After Endovascular Embolectomy in Anterior Circulation Stroke Using Biomarkers

    Stroke is a major public health problem that can cause a long-term disability or death due to brain damage. Serious stroke is frequently caused by a large vessel occlusion in the anterior circulation, which sh...

    Fani Pujol-Calderón, Henrik Zetterberg, Erik Portelius in Translational Stroke Research (2022)

  4. Article

    Open Access

    Neurofilaments can differentiate ALS subgroups and ALS from common diagnostic mimics

    Delayed diagnosis and misdiagnosis are frequent in people with amyotrophic lateral sclerosis (ALS), the most common form of motor neuron disease (MND). Neurofilament light chain (NFL) and phosphorylated neurof...

    Arvin Behzadi, Fani Pujol-Calderón, Anton E. Tjust, Anna Wuolikainen in Scientific Reports (2021)

  5. Article

    Correction: Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain

    Ivan Alić, Pollyanna A. Goh, Aoife Murray, Erik Portelius in Molecular Psychiatry (2021)

  6. Article

    Open Access

    Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain

    A population of more than six million people worldwide at high risk of Alzheimer’s disease (AD) are those with Down Syndrome (DS, caused by trisomy 21 (T21)), 70% of whom develop dementia during lifetime, caus...

    Ivan Alić, Pollyanna A. Goh, Aoife Murray, Erik Portelius in Molecular Psychiatry (2021)

  7. Article

    Open Access

    Predicting progression and cognitive decline in amyloid-positive patients with Alzheimer’s disease

    In Alzheimer’s disease, amyloid- β (A β) peptides aggregate in the lowering CSF amyloid levels - a key pathological hallmark of the disease. However, lowered CSF amyloid levels may also be present in cognitively ...

    Hákon Valur Dansson, Lena Stempfle, Hildur Egilsdóttir in Alzheimer's Research & Therapy (2021)

  8. Article

    Open Access

    Lumbar and ventricular CSF concentrations of extracellular matrix proteins before and after shunt surgery in idiopathic normal pressure hydrocephalus

    Idiopathic normal pressure hydrocephalus (iNPH) is a reversible CNS disease characterized by disturbed cerebrospinal fluid (CSF) dynamics. Changes in the extracellular matrix (ECM) composition might be involve...

    Karolina Minta, Anna Jeppsson, Gunnar Brinkmalm in Fluids and Barriers of the CNS (2021)

  9. Article

    Open Access

    A multifactorial model of pathology for age of onset heterogeneity in familial Alzheimer’s disease

    Presenilin-1 (PSEN1) mutations cause familial Alzheimer’s disease (FAD) characterized by early age of onset (AoO). Examination of a large kindred harboring the PSEN1-E280A mutation reveals a range of AoO spann...

    Diego Sepulveda-Falla, Lucia Chavez-Gutierrez, Erik Portelius in Acta Neuropathologica (2021)

  10. Article

    Open Access

    Familial Alzheimer’s disease patient-derived neurons reveal distinct mutation-specific effects on amyloid beta

    Familial Alzheimer’s disease (fAD) mutations alter amyloid precursor protein (APP) cleavage by γ-secretase, increasing the proportion of longer amyloidogenic amyloid-β (Aβ) peptides. Using five control induced...

    Charles Arber, Jamie Toombs, Christopher Lovejoy, Natalie S. Ryan in Molecular Psychiatry (2020)

  11. Article

    Open Access

    Dynamics of cerebrospinal fluid levels of matrix metalloproteinases in human traumatic brain injury

    Matrix metalloproteinases (MMPs) are extracellular enzymes involved in the degradation of extracellular matrix (ECM) proteins. Increased expression of MMPs have been described in traumatic brain injury (TBI) a...

    Karolina Minta, Gunnar Brinkmalm, Faiez Al Nimer, Eric P. Thelin in Scientific Reports (2020)

  12. Article

    Open Access

    Perspectives in fluid biomarkers in neurodegeneration from the 2019 biomarkers in neurodegenerative diseases course—a joint PhD student course at University College London and University of Gothenburg

    Until relatively recently, a diagnosis of probable Alzheimer’s disease (AD) and other neurodegenerative disorders was principally based on clinical presentation, with post-mortem examination remaining a gold s...

    Pawel Obrocki, Ayesha Khatun, Deborah Ness in Alzheimer's Research & Therapy (2020)

  13. Article

    Open Access

    Novel tau fragments in cerebrospinal fluid: relation to tangle pathology and cognitive decline in Alzheimer’s disease

    Tau is an axonal microtubule-binding protein. Tau pathology in brain and increased tau concentration in the cerebrospinal fluid (CSF) are hallmarks of Alzheimer’s disease (AD). Most of tau in CSF is present as...

    Claudia Cicognola, Gunnar Brinkmalm, Jessica Wahlgren in Acta Neuropathologica (2019)

  14. Article

    Open Access

    The intact postsynaptic protein neurogranin is reduced in brain tissue from patients with familial and sporadic Alzheimer’s disease

    Synaptic degeneration and neuronal loss are early events in Alzheimer’s disease (AD), occurring long before symptom onset, thus making synaptic biomarkers relevant for enabling early diagnosis. The postsynapti...

    Hlin Kvartsberg, Tammaryn Lashley, Christina E. Murray in Acta Neuropathologica (2019)

  15. Article

    Open Access

    Cerebrospinal fluid neurogranin concentration in neurodegeneration: relation to clinical phenotypes and neuropathology

    Neurogranin (Ng) is a post-synaptic protein that previously has been shown to be a biomarker for synaptic function when measured in cerebrospinal fluid (CSF). The CSF concentration of Ng is increased in Alzhei...

    Erik Portelius, Bob Olsson, Kina Höglund, Nicholas C. Cullen in Acta Neuropathologica (2018)

  16. Article

    Open Access

    Alzheimer-associated cerebrospinal fluid fragments of neurogranin are generated by Calpain-1 and prolyl endopeptidase

    Neurogranin (Ng) is a small 7.6 kDa postsynaptic protein that has been detected at elevated concentrations in cerebrospinal fluid (CSF) of patients with Alzheimer’s disease (AD), both as a full-length molecule...

    Bruno Becker, Faisal Hayat Nazir, Gunnar Brinkmalm in Molecular Neurodegeneration (2018)

  17. Article

    Open Access

    The presubiculum is preserved from neurodegenerative changes in Alzheimer’s disease

    In the majority of affected brain regions the pathological hallmarks of Alzheimer’s disease (AD) are β-amyloid (Aβ) deposits in the form of diffuse and neuritic plaques, tau pathology in the form of neurofibri...

    Christina E. Murray, Priya Gami-Patel in Acta Neuropathologica Communications (2018)

  18. Article

    Open Access

    Ex vivo 18O-labeling mass spectrometry identifies a peripheral amyloid β clearance pathway

    Proteolytic degradation of amyloid β (Aβ) peptides has been intensely studied due to the central role of Aβ in Alzheimer’s disease (AD) pathogenesis. While several enzymes have been shown to degrade Aβ peptide...

    Erik Portelius, Niklas Mattsson, Josef Pannee in Molecular Neurodegeneration (2017)

  19. Article

    Open Access

    Amyloid precursor protein expression and processing are differentially regulated during cortical neuron differentiation

    Amyloid precursor protein (APP) and its cleavage product amyloid β (Aβ) have been thoroughly studied in Alzheimer’s disease. However, APP also appears to be important for neuronal development. Differentiation ...

    Petra Bergström, Lotta Agholme, Faisal Hayat Nazir in Scientific Reports (2016)

  20. Article

    Open Access

    A single dose of the γ-secretase inhibitor semagacestat alters the cerebrospinal fluid peptidome in humans

    In Alzheimer’s disease, beta-amyloid peptides in the brain aggregate into toxic oligomers and plaques, a process which is associated with neuronal degeneration, memory loss, and cognitive decline. One therapeu...

    Mikko Hölttä, Robert A. Dean, Eric Siemers in Alzheimer's Research & Therapy (2016)

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