Publications database

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2021-10-11
10:13
[DZNE-2021-01292] Dissertation / PhD Thesis

Hippocampal network and inhibitory neuron dysfunction in age and disease
158 pages, 21 figures () = Dissertation, Rheinische Friedrich-Wilhelms-Universität Bonn, 2021
Aging and Alzheimer' s disease (AD) are two highly intertwined pathological processes. Indeed, one of the highest risk factors for developing AD is age. [...]

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2021-10-01
15:49
[DZNE-2021-01290] Contribution to a conference proceedings/Contribution to a book
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Identifying the diffusion source of dementia spreading in structural brain networks
Medical Imaging 2021: Biomedical Applications in Molecular, Structural, and Functional Imaging : [Proceedings] - SPIE, 2021. - ISBN 97815106402909781510640306 - doi:10.1117/12.2582200
Biomedical Applications in Molecular, Structural, and Functional Imaging, Online OnlyOnline Only, United States, 15 Feb 2021 - 20 Feb 20212021-02-152021-02-20
SPIE na () [10.1117/12.2582200]

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2021-09-23
14:18
[DZNE-2021-01288] Journal Article
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Polygenic associations and causal inferences between serum immunoglobulins and amyotrophic lateral sclerosis.
Due to the limitations like reverse causation and residual confounding commonly seen in the observational studies, the relationship between serum immunoglobulins and amyotrophic lateral sclerosis (ALS) remains unclear.Summary statistics from large-scale genome-wide association studies (GWAS) among European ancestry populations (~15,000 individuals for serum immunoglobulins, and more than 36,000 individuals for ALS) were accessed and used in the discovery and replication phase, respectively. Polygenic risk score analysis was performed to test the polygenic association, and Mendelian randomization analysis was used to infer the causality.An inverse polygenic association was discovered between IgA and ALS, as well as between IgM and ALS. [...]

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2021-09-22
16:35
[DZNE-2021-01287] Journal Article (Review Article)

Autophagy in motor neuron diseases
Motor neuron diseases (MNDs) are a wide group of neurodegenerative disorders characterized by the degeneration of a specific neuronal type located in the central nervous system, the motor neuron (MN). There are two main types of MNs, spinal and cortical MNs and depending on the type of MND, one or both types are affected. [...]

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2021-09-22
13:21
pmc [DZNE-2021-01286] Journal Article (Review Article)

Alpha-Synuclein Antibody Characterization: Why Semantics Matters.
In protein aggregation disorders, we assume that, during the process of protein aggregation, different types of aggregated species (oligomers, protofibrils, fibrils, etc.) are formed, some of which can be toxic to cells/tissues/organs. Recent evidence from numerous studies in cell and animal models of disease suggest that oligomeric species of different proteins might be more toxic that the larger, fibrillar forms. [...]

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2021-09-22
13:19
[DZNE-2021-01285] Journal Article
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A reporter cell system for the triggering receptor expressed on myeloid cells 2 reveals differential effects of disease-associated variants on receptor signaling and activation by antibodies against the stalk region.
Glia 69(5), 1126 - 1139 () [10.1002/glia.23953]
The triggering receptor expressed on myeloid cells 2 (TREM2) is an immune receptor expressed on myeloid-derived cell types. The extracellular immunoglobulin-like domain of TREM2 binds anionic ligands including Apolipoprotein E and Amyloid-β. [...]

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2021-09-22
13:13
DBCoverage [DZNE-2021-01284] Journal Article
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Relation of retinal and hippocampal thickness in patients with amnestic mild cognitive impairment and healthy controls.
Investigating retinal thickness may complement existing biological markers for dementia and other neurodegenerative diseases. Although retinal thinning is predictive for cognitive decline, it remains to be investigated if and how this feature aligns with neurodegeneration elsewhere in the brain, specifically in early disease stages.Using optical coherence tomography and magnetic resonance imaging, we examined retinal thickness as well as hippocampal structure in patients with amnestic mild cognitive impairment and healthy controls.The groups did not differ in hippocampal and retinal thickness measures. [...]

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2021-09-22
13:10
[DZNE-2021-01283] Journal Article
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Deletion of the inflammatory S100-A9/MRP14 protein does not influence survival in hSOD1G93A ALS mice.
Neuroinflammation is a hallmark of Amyotrophic Lateral Sclerosis (ALS) in hSOD1G93A mouse models where microglial cells contribute to the progressive motor neuron degenerative process. S100-A8 and S100-A9 (also known as MRP8 and MRP14, respectively) are cytoplasmic proteins expressed by inflammatory myeloid cells, including microglia and macrophages. [...]

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2021-09-22
13:09
[DZNE-2021-01282] Journal Article
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Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.
Ophthalmology 128(5), 649 - 660 () [10.1016/j.ophtha.2020.12.012]
To evaluate the efficacy of a single intravitreal injection of rAAV2/2-ND4 in subjects with visual loss from Leber hereditary optic neuropathy (LHON).RESCUE is a multicenter, randomized, double-masked, sham-controlled, phase 3 clinical trial.Subjects with the m.11778G>A mitochondrial DNA mutation and vision loss ≤6 months from onset in 1 or both eyes were included.Each subject's right eye was randomly assigned (1:1) to treatment with rAAV2/2-ND4 (single injection of 9 × 1010 viral genomes in 90 μl) or to sham injection. The left eye received the treatment not allocated to the right eye.The primary end point was the difference of the change from baseline in best-corrected visual acuity (BCVA) between rAAV2/2-ND4-treated and sham-treated eyes at week 48. [...]

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2021-09-22
13:08
[DZNE-2021-01281] Journal Article
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Impairment of mitochondrial oxidative phosphorylation in skin fibroblasts of SALS and FALS patients is rescued by in vitro treatment with ROS scavengers.
Amyotrophic lateral sclerosis (ALS) is a devastating, rapidly progressive, neurodegenerative disorder affecting upper and lower motor neurons. Approximately 10% of patients suffer from familial ALS (FALS) with mutations in different ubiquitously expressed genes including SOD1, C9ORF72, TARDBP, and FUS. [...]

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