Max Borsche

Max Borsche
Universität zu Lübeck · Institute of Neurogenetics

Doctor of Medicine

About

31
Publications
4,007
Reads
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900
Citations
Citations since 2016
31 Research Items
899 Citations
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2016201720182019202020212022050100150200250
2016201720182019202020212022050100150200250

Publications

Publications (31)
Article
Full-text available
Although serum from patients with Parkinson's disease contains elevated levels of numerous pro-inflammatory cytokines including IL-6, TNF, IL-1β, and IFNγ, whether inflammation contributes to or is a consequence of neuronal loss remains unknown1. Mutations in parkin, an E3 ubiquitin ligase, and PINK1, a ubiquitin kinase, cause early onset Parkinson...
Article
Full-text available
There is increasing evidence for a role of inflammation in Parkinson's disease. Recent research in murine models suggests that parkin and PINK1 deficiency leads to impaired mitophagy, which causes the release of mitochondrial DNA (mtDNA), thereby triggering inflammation. Specifically, the CGAS (cyclic GMP-AMP synthase)-STING (stimulator of interfer...
Article
Full-text available
Mitochondrial dysfunction represents a well-established player in the pathogenesis of both monogenic and idiopathic Parkinson's disease (PD). Initially originating from the observation that mitochondrial toxins cause PD, findings from genetic PD supported a contribution of mitochondrial dysfunction to the disease. Here, proteins encoded by the auto...
Article
Zusammenfassung Hintergrund Mit dem Ausbruch der Corona-Pandemie wurde im Großraum Lübeck ab Mai 2020 die LübEcker Längsschnittuntersuchung zu Infektionen mit SARS-CoV-2 (ELISA-Studie) durchgeführt, die Aufschluss über Prävalenz, Dunkelziffer und Symptome von SARS-CoV-2-Infektionen geben sollte. Ziel der vorliegenden Arbeit ist die Bewertung defin...
Article
Full-text available
Background Considering the insufficiently controlled spread of new SARS-CoV-2 variants, partially low vaccination rates, and increased risk of a post-COVID syndrome, well-functioning, targeted intervention measures at local and national levels are urgently needed to contain the SARS-CoV-2 pandemic. Surveillance concepts (cross-sectional, cohorts, c...
Article
Full-text available
Background To investigate the association between disease duration and the severity of bilateral vestibulopathy in individuals with complete or incomplete CANVAS (Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome) and biallelic RFC1 repeat expansions. Methods Retrospective analysis of clinical data and the vestibulo‐ocular reflex...
Preprint
Biallelic mutations in PINK1 and PRKN cause recessively inherited Parkinson’s disease (PD). Though some studies suggest that PINK1 / PRKN monoallelic mutations may not contribute to risk, deep phenotyping assessment showed that PINK1 or PRKN monoallelic pathogenic variants were at a significantly higher rate in PD compared to controls. Given the es...
Article
Full-text available
With newly rising coronavirus disease 2019 (COVID-19) cases, important data gaps remain on (i) long-term dynamics of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection rates in fixed cohorts (ii) identification of risk factors, and (iii) establishment of effective surveillance strategies. By polymerase chain reaction and antibod...
Article
Full-text available
Cerebral malaria is a potentially lethal disease, which is caused by excessive inflammatory responses to Plasmodium parasites. Here we use a newly developed transgenic Plasmodium berghei ANKA ( PbA Ama1 OVA ) parasite that can be used to study parasite-specific T cell responses. Our present study demonstrates that Ifnar1 -/- mice, which lack type I...
Article
Full-text available
Mutations in the Parkin (PRKN) gene are the most frequent cause of autosomal recessive early-onset Parkinson's disease (PD). Heterozygous PRKN mutation carriers might also be at increased risk for developing clinical symptoms of PD. Given the high frequency of heterozygous mutations in the general population, it is essential to have better estimate...
Article
Background Several clinical and demographic factors relate to anatomic spread of adult-onset isolated dystonia, but a predictive model is still lacking. Objectives 1) To develop and validate a predictive model of anatomic spread of adult-onset isolated dystonia; 2) to evaluate whether presence of tremor associated with dystonia influences model pr...
Article
Background: Several monogenic causes for isolated dystonia have been identified, but they collectively account for only a small proportion of cases. Two genome-wide association studies have reported a few potential dystonia risk loci; but conclusions have been limited by small sample sizes, partial coverage of genetic variants, or poor reproducibi...
Article
Full-text available
Neurological long-term sequelae are increasingly considered an important challenge in the recent COVID-19 pandemic. However, most evidence for neurological symptoms after SARS-CoV-2 infection and central nervous system invasion of the virus stems from individuals severely affected in the acute phase of the disease. Here, we report long-lasting cogn...
Article
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Recall by genotype (RbG) studies aim to better understand the phenotypes that correspond to genetic variants of interest, by recruiting carriers of such variants for further phenotyping. RbG approaches pose major ethical and legal challenges related to the disclosure of possibly unwanted genetic information. The Cooperative Health Research in South...
Preprint
Full-text available
Background More than one year into the COVID-19 pandemic, important data gaps remain on longitudinal prevalence of SARS-CoV-2 infection at the population level and in defined risk groups, efficacy of specific lockdown measures, and on (cost-)effective surveillance. Methods The ELISA (Luebeck Longitudinal Investigation of SARS-CoV-2 Infection) study...
Article
Background Heterozygous carriers of Parkin mutations are suggested to be at risk of developing Parkinson’s disease, while biallelic variants are associated with typical autosomal recessive early-onset PD. Investigating unaffected heterozygous mutation carriers holds the potential of a deeper understanding of monogenic PD and has implications for PD...
Preprint
Full-text available
Coronavirus disease 2019 (COVID-19) is a viral infection affecting multiple organ systems of great significance for metabolic processes. Thus. there is increasing interest in metabolic and lipoprotein signatures of the disease and early analyses have demonstrated metabolic pattern typical for atherosclerotic and hepatic damage in COVID-19 patients....
Article
Full-text available
Excessive inflammatory immune responses during infections with Plasmodium parasites are responsible for severe complications such as cerebral malaria (CM) that can be studied experimentally in mice. Dendritic cells (DC) activate cytotoxic CD8 T cells and initiate immune responses against the parasites. Batf3‐/‐ mice lack a DC subset, which efficien...
Article
Full-text available
Despite a genetic component in the development of Parkinson's disease (PD), monozygotic twin pairs often display discordance for PD. Here, we describe the generation of six human induced pluripotent stem cell (iPSC) lines from dermal fibroblasts of three pairs of monozygotic twins discordant for PD. We used non-integrating Sendai virus and the iPSC...
Article
The diagnosis of Parkinson’s disease (PD) in patients carrying mutations in the Parkin gene is frequently delayed. We confirmed this finding in a sample of nine biallelic Parkin-PD patients with a mean delay of nine years and found an inverse relationship between diagnostic delay and age at onset.
Article
Full-text available
Differences in concordance rates between monozygotic and dizygotic twin pairs with Parkinson's disease (PD) have been used to estimate genetic influences in PD pathogenesis. We hypothesized that “discordance” may not in all cases adequately reflect the multifaceted disease manifestation of PD that involves a continuum from prodromal to definite PD....
Article
Background: Although the genetic load is high in early-onset Parkinson's disease, thorough investigation of the genetic diagnostic yield has yet to be established. The objectives of this study were to assess variants in known genes for PD and other movement disorders and to find new candidates in 50 patients with early-onset PD. Methods: We searche...
Article
Full-text available
Zusammenfassung Monogene, also auf einem einzelnen Gendefekt beruhende Parkinson-Syndrome (PS), machen ca. 5 % aller Parkinson-Erkrankungen aus. Hierbei konnten in den letzten 20 Jahren drei autosomal-dominant ( SNCA, LRRK2, VPS35 ) und drei autosomal-rezessiv ( Parkin, PINK1, DJ-1 ) vererbte kausale Parkinson-Gene identifiziert und validiert werde...

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Projects

Projects (2)
Project
LübEcker Längsschnittuntersuchung zu Infektionen mit SARS–CoV-2 The ELISA study will provide information on the actual spread of the novel corona virus (SARS-CoV-2). In particular, it will investigate the extent to which containment measures and their relaxation affect the further spread of SARS-CoV-2. elisa-luebeck.de
Archived project
Identification of PD with mitochondrial dysfunction by deep phenotyping aiming to develop new candidate medications to slow neurodegeneration in the subset of PD patients with overt mitochondrial dysfunction.