- Parkinson's Disease Mechanisms and Treatments
- Neurological diseases and metabolism
- Alzheimer's disease research and treatments
- Genetic Neurodegenerative Diseases
- Nuclear Receptors and Signaling
- Neuroinflammation and Neurodegeneration Mechanisms
- Neurological disorders and treatments
- RNA regulation and disease
- Botulinum Toxin and Related Neurological Disorders
- Metabolomics and Mass Spectrometry Studies
- Prion Diseases and Protein Misfolding
- Biochemical Acid Research Studies
- Nerve injury and regeneration
- Cancer, Hypoxia, and Metabolism
- MicroRNA in disease regulation
- S100 Proteins and Annexins
- FOXO transcription factor regulation
- Immune cells in cancer
- Diet and metabolism studies
- Hereditary Neurological Disorders
- Nutritional Studies and Diet
- Ginkgo biloba and Cashew Applications
- Biochemical effects in animals
- Amyotrophic Lateral Sclerosis Research
- Hyperglycemia and glycemic control in critically ill and hospitalized patients
Universität Innsbruck
2016-2025
Innsbruck Medical University
2016-2025
Instituto de Biomedicina de Sevilla
2012-2021
Universidad de Sevilla
2012-2021
Hospital Universitario Virgen del Rocío
2012-2021
ABSTRACT Background MSA is a fatal neurodegenerative disease characterized by autonomic failure and severe motor impairment. Its main pathological hallmark the accumulation of α‐synuclein in oligodendrocytes, leading to glial neuronal dysfunction neurodegeneration. These features are recapitulated PLP‐hαSyn mouse model expressing human oligodendrocytes. At present, there no effective disease‐modifying therapy. Previous experiments have shown that aggregation inhibitor, anle138b, reduces...
Abstract Multiple system atrophy (MSA) is a fatal neurodegenerative disorder characterized by abnormal accumulation of α-synuclein, progressive neuronal loss, motor impairment and widespread pathological changes, which include significant involvement the cerebellum. To understand early molecular mechanisms that might underlie α-synuclein-triggered MSA cerebellar pathology, we performed RNA sequencing (RNA-Seq) samples from well-established model MSA. RNA-Seq differential gene expression...
Cognitive impairment in multiple system atrophy (MSA) is common, but remain poorly characterized. We evaluated cognitive and behavioral features MSA patients assessed between-group differences for subtypes the effect of orthostatic hypotension (OH) on cognition.This retrospective study included 54 with clinical diagnosis possible probable referred to Department Neurology at Medical University Innsbruck between 2000 2018. Neurological work-up comprehensive neuropsychological testing including...
Abstract Background Misfolded oligomeric α-synuclein plays a pivotal role in the pathogenesis of α-synucleinopathies including Parkinson’s disease and multiple system atrophy, its detection parallels activation microglia loss neurons substantia nigra pars compacta. Here we aimed to analyze therapeutic efficacy PD03, new AFFITOPE® immunotherapy approach, either alone or combination with Anle138b, PLP-α-syn mouse model. Methods The mice were treated PD03 immunotherapy, two. Five months after...
Multiple system atrophy (MSA) is a fatal neurodegenerative disease that belongs to the family of α-synucleinopathies. At post mortem examination, intracellular inclusions misfolded α-synuclein are found in neurons and oligodendrocytes considered play significant role pathogenesis. However, early steps process unknown difficult study tissue derived from end-stage disease.Induced pluripotent stem cells (iPSCs) were generated patients' control skin fibroblasts differentiated into NCAM-positive...
Abstract Background Multiple system atrophy (MSA) is a rare neurodegenerative disease characterized by intracellular accumulations of α‐synuclein and nerve cell loss in striatonigral olivopontocerebellar structures. Epidemiological clinical studies have reported potential involvement autoimmune mechanisms MSA pathogenesis. However, genetic etiology this interaction remains unknown. We aimed to investigate overlap between 7 diseases identify shared loci. Methods Genome‐wide association study...
ABSTRACT Background Multiple system atrophy (MSA) is a fatal neurodegenerative disorder characterized by aggregated α‐synuclein (α‐syn) in oligodendrocytes and accompanied striatonigral olivopontocerebellar degeneration motor symptoms. Key features of MSA are replicated the PLP‐α‐syn transgenic mouse, including progressive deterioration. There currently no approved treatments for MSA. ATH434 novel, orally bioavailable brain penetrant small molecule inhibitor α‐syn aggregation. Objectives To...
Background Recent epidemiological evidence has linked hypoxia with the development of Alzheimer disease (AD). A number in vitro and vivo studies have reported that can induce amyloid-β peptide accumulation through various molecular mechanisms including up-regulation precursor protein, β-secretase Bace1, or γγ-secretase complex components, as well down-regulation Aβ-degrading enzymes. Objectives To investigate effects acute chronic sustained Aβ generation vivo. Methods 2–3 month-old C57/Bl6J...
Abstract Aim Pre-clinical studies in models of multiple sclerosis and other inflammatory disorders suggest that high-salt diet may induce activation the immune system potentiate inflammation. However, constitutes a common non-pharmacological intervention to treat autonomic problems synucleinopathies such as Parkinson’s disease atrophy. Since neuroinflammation plays an important pathogenic role these neurodegenerative disorders, we asked here whether aggravate phenotype transgenic model...
Abstract Background Multiple system atrophy (MSA) and Parkinson's disease (PD) patients develop respiratory cardiovascular disturbances including obstructive sleep apnea, orthostatic hypotension, nocturnal stridor. We hypothesized that, associated with these disturbances, hypoxic events may occur in MSA PD brains that play a role progression. The objective of this study was to evaluate the presence hypoxia nonneurological controls patients. Methods Molecular levels markers were measured...
Abstract Microglia respond to Alzheimer’s disease (AD) with a variety of transcriptional responses. However, the regulation specific signatures and contribution each individual response progression is only starting be characterized. We have previously shown that hypoxia via inducible factor 1 (HIF1) strong regulator Aß plaque-associated microglia (AßAM). Here, we characterize role HIF1-mediated transcription Egln3 , encoding for PHD3, in AßAM. show oligomeric treatment (oAß) vitro induces...
ABSTRACT We aimed to identify shared genetic background between multiple system atrophy (MSA) and autoimmune diseases by using the conjFDR approach. Our study showed significant overlap MSA inflammatory bowel disease identified DENND1B, C7 , RSP04 loci, which are linked changes in methylation or expression levels of adjacent genes. obtained evidence enriched heritability involving immune/digestive categories. Finally, an mouse model dysregulation gene degenerating midbrain compared wildtype...