OpenAccess

Latest additions:
2022-11-24
13:42
OpenAccess [DZNE-2022-01677] Journal Article
; ; ; et al
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. [...]
OpenAccess: Download fulltextPDF Download fulltextPDF (PDFA);

Detailed record - Similar records
2022-11-24
13:39
OpenAccess [DZNE-2022-01676] Journal Article (Letter)
; ; ; et al
Obsessive-compulsive symptoms in two patients with strategic basal ganglia lesions.
Molecular psychiatry Advance online publication, n/a () [10.1038/s41380-022-01853-8]
Fulltext: Download fulltextPDF Download fulltextPDF (PDFA); OpenAccess: Download fulltextPDF Download fulltextPDF (PDFA);

Detailed record - Similar records
2022-11-24
13:29
OpenAccess [DZNE-2022-01674] Journal Article
; ; ; et al
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. [...]
OpenAccess: Download fulltextPDF Download fulltextPDF (PDFA);

Detailed record - Similar records
2022-11-23
13:55
OpenAccess [DZNE-2022-01673] Journal Article
; ; ; et al
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. [...]
OpenAccess: Download fulltextPDF Download fulltextPDF (PDFA);

Detailed record - Similar records
2022-11-23
12:13
OpenAccess [DZNE-2022-01672] Journal Article
; ; ; et al
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..
OpenAccess: Download fulltextPDF Download fulltextPDF (PDFA);

Detailed record - Similar records
2022-11-23
12:09
OpenAccess [DZNE-2022-01671] Review/Journal Article
;
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. [...]
OpenAccess: Download fulltextPDF Download fulltextPDF (PDFA);

Detailed record - Similar records
2022-11-23
11:54
OpenAccess [DZNE-2022-01670] Journal Article
; ; ; et al
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. [...]
OpenAccess: Download fulltextPDF Download fulltextPDF (PDFA);

Detailed record - Similar records
2022-11-22
12:07
OpenAccess [DZNE-2022-01665] Journal Article
; ; ; et al
Human variation in population-wide gene expression data predicts gene perturbation phenotype.
iScience 25(11), 105328 - () [10.1016/j.isci.2022.105328]
Population-scale datasets of healthy individuals capture genetic and environmental factors influencing gene expression. The expression variance of a gene of interest (GOI) can be exploited to set up a quasi loss- or gain-of-function 'in population' experiment. [...]
Fulltext: Download fulltextZIP; OpenAccess: Download fulltextPDF Download fulltextPDF (PDFA);

Detailed record - Similar records
2022-11-22
11:43
OpenAccess [DZNE-2022-01664] Journal Article
; ; ; et al
Ganglioside lipidomics of CNS myelination using direct infusion shotgun mass spectrometry.
iScience 25(11), 105323 - () [10.1016/j.isci.2022.105323]
Gangliosides are present and concentrated in axons and implicated in axon-myelin interactions, but how ganglioside composition changes during myelin formation is not known. Here, we present a direct infusion (shotgun) lipidomics method to analyze gangliosides in small amounts of tissue reproducibly and with high sensitivity. [...]
Fulltext: Download fulltextZIP; OpenAccess: Download fulltextPDF Download fulltextPDF (PDFA);

Detailed record - Similar records
2022-11-22
11:30
OpenAccess [DZNE-2022-01663] Journal Article
; ; ; et al
Dataset of a retrospective multicenter cohort study on characteristics of immune checkpoint inhibitor-induced encephalitis and comparison with HSV-1 and anti-LGI1 encephalitis
Data in Brief 45, 108649 - () [10.1016/j.dib.2022.108649]
Over the past decade, cancer immunotherapy with immune checkpoint inhibitors (ICIs) has significantly improved the outcome of many malignancies. However, with the broad use of ICIs, neurological immune related adverse events (irAE) are increasingly recognized. [...]
OpenAccess: Download fulltextPDF Download fulltextPDF (PDFA);

Detailed record - Similar records