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2022-11-24
13:42
OpenAccess [DZNE-2022-01677] Journal Article
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Comparative serum proteomic analysis of a selected protein panel in individuals with schizophrenia and bipolar disorder and the impact of genetic risk burden on serum proteomic profiles.
The diagnostic criteria for schizophrenia (SCZ) and bipolar disorder (BD) are based on clinical assessments of symptoms. In this pilot study, we applied high-throughput antibody-based protein profiling to serum samples of healthy controls and individuals with SCZ and BD with the aim of identifying differentially expressed proteins in these disorders. [...]
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2022-11-24
13:39
OpenAccess [DZNE-2022-01676] Journal Article (Letter)
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Obsessive-compulsive symptoms in two patients with strategic basal ganglia lesions.
Molecular psychiatry Advance online publication, n/a () [10.1038/s41380-022-01853-8]
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2022-11-24
13:34
[DZNE-2022-01675] Review/Journal Article
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Microglia states and nomenclature: A field at its crossroads.
Neuron 110(21), 3458 - 3483 () [10.1016/j.neuron.2022.10.020]
Microglial research has advanced considerably in recent decades yet has been constrained by a rolling series of dichotomies such as 'resting versus activated' and 'M1 versus M2.' This dualistic classification of good or bad microglia is inconsistent with the wide repertoire of microglial states and functions in development, plasticity, aging, and diseases that were elucidated in recent years. New designations continuously arising in an attempt to describe the different microglial states, notably defined using transcriptomics and proteomics, may easily lead to a misleading, although unintentional, coupling of categories and functions. [...]

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2022-11-24
13:29
OpenAccess [DZNE-2022-01674] Journal Article
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CerebNet: A fast and reliable deep-learning pipeline for detailed cerebellum sub-segmentation.
Quantifying the volume of the cerebellum and its lobes is of profound interest in various neurodegenerative and acquired diseases. Especially for the most common spinocerebellar ataxias (SCA), for which the first antisense oligonculeotide-base gene silencing trial has recently started, there is an urgent need for quantitative, sensitive imaging markers at pre-symptomatic stages for stratification and treatment assessment. [...]
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2022-11-23
13:55
OpenAccess [DZNE-2022-01673] Journal Article
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Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain Iron Accumulation disorders.
Dopamine metabolism, alpha-synuclein pathology, and iron homeostasis have all been implicated as potential contributors to the unique vulnerability of substantia nigra dopaminergic neurons which preferentially decline in Parkinson's disease and some rare neurodegenerative disorders with shared pathological features. However, the mechanisms contributing to disease progression and resulting in dopaminergic neuron loss in the substantia nigra are still not completely understood. [...]
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2022-11-23
12:13
OpenAccess [DZNE-2022-01672] Journal Article
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Validation of Mct8/Oatp1c1 dKO mice as a model organism for the Allan-Herndon-Dudley Syndrome.
The Allan-Herndon-Dudley syndrome (AHDS) is a severe disease caused by dysfunctional central thyroid hormone transport due to functional loss of the monocarboxylate transporter 8 (MCT8). In this study, we assessed whether mice with concomitant deletion of the thyroid hormone transporters Mct8 and the organic anion transporting polypeptide (Oatp1c1) represent a valid preclinical model organism for the AHDS.We generated and metabolically characterized a new CRISPR/Cas9 generated Mct8/Oatp1c1 double-knockout (dKO) mouse line for the clinical features observed in patients with AHDS.We show that Mct8/Oatp1c1 dKO mice mimic key hallmarks of the AHDS, including decreased life expectancy, central hypothyroidism, peripheral hyperthyroidism, impaired neuronal myelination, impaired motor abilities and enhanced peripheral thyroid hormone action in the liver, adipose tissue, skeletal muscle and bone.We conclude that Mct8/Oatp1c1 dKO mice are a valuable model organism for the preclinical evaluation of drugs designed to treat the AHDS..
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2022-11-23
12:09
OpenAccess [DZNE-2022-01671] Review/Journal Article
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Molecular disease mechanisms of human antineuronal monoclonal autoantibodies.
Autoantibodies targeting brain antigens can mediate a wide range of neurological symptoms ranging from epileptic seizures to psychosis to dementia. Although earlier experimental work indicated that autoantibodies can be directly pathogenic, detailed studies on disease mechanisms, biophysical autoantibody properties, and target interactions were hampered by the availability of human material and the paucity of monospecific disease-related autoantibodies. [...]
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2022-11-23
11:54
OpenAccess [DZNE-2022-01670] Journal Article
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Biomarkers of neurodegeneration in neural autoantibody-associated psychiatric syndromes: A retrospective cohort study.
Autoantibody-associated psychiatric syndromes are a novel disease entity that is not fully understood. Several lines of evidence suggest that neurodegenerative processes are involved here. [...]
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2022-11-23
11:52
[DZNE-2022-01669] Journal Article
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UHPLC-ESI-MS/MS assay for quantification of endocannabinoids in cerebrospinal fluid using surrogate calibrant and surrogate matrix approaches.
Endocannabinoids are endogenous lipids with the main function recognized to act as neuromodulators through their cannabinoid receptors. Dysregulation of the endocannabinoid system is implicated in various pathologies, such as inflammatory and neurodegenerative diseases. [...]

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2022-11-23
11:36
[DZNE-2022-01668] Journal Article
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The frequency of non-motor symptoms in SCA3 and their association with disease severity and lifestyle factors.
Journal of neurology Advance online publication, () [10.1007/s00415-022-11441-z]
Non-motor symptoms (NMS) are a substantial burden for patients with SCA3. There are limited data on their frequency, and their relation with disease severity and activities of daily living is not clear. [...]

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