Publications by authors named "Stefanie Kalb"

Mutations in GBA1, the gene encoding the lysosomal enzyme β-glucocerebrosidase (GCase), which cause Gaucher's disease, are the most frequent genetic risk factor for Parkinson's disease (PD). Here, we employ global proteomic and single-cell genomic approaches in stable cell lines as well as induced pluripotent stem cell (iPSC)-derived neurons and midbrain organoids to dissect the mechanisms underlying GCase-related neurodegeneration. We demonstrate that GCase can be imported from the cytosol into the mitochondria via recognition of internal mitochondrial targeting sequence-like signals.

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Background: Endometriosis is a multifaceted chronic pain disorder that can have an impact on both physical and mental health. Women suffering from chronic pain may be more susceptible to various health disorders, especially during adversity, such as the COVID-19 pandemic. Previous research has identified resilience as a mediator between internal or external stressors and well-being.

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Background: Endometriosis is a multifaceted chronic pain condition that can have a negative impact on mental health. Patients suffering from chronic pain may face an additional psychological burden during adversity, such as the COVID-19 pandemic. The main aim of this research was to evaluate the prevalence of self-reported depression and anxiety, the influence of demographic, endometriosis-specific, pandemic-specific factors, and resilience on mental health outcomes of patients with endometriosis.

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Background: Endometriosis is a chronic pain condition in premenopausal women. Pain is mainly characterized by pain intensity and may induce disability in all areas of daily life. Nevertheless, pain is influenced by emotional and social factors as well.

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Mutations in pitrilysin metallopeptidase 1 (PITRM1), a mitochondrial protease involved in mitochondrial precursor processing and degradation, result in a slow-progressing syndrome characterized by cerebellar ataxia, psychotic episodes, and obsessive behavior, as well as cognitive decline. To investigate the pathogenetic mechanisms of mitochondrial presequence processing, we employed cortical neurons and cerebral organoids generated from PITRM1-knockout human induced pluripotent stem cells (iPSCs). PITRM1 deficiency strongly induced mitochondrial unfolded protein response (UPR) and enhanced mitochondrial clearance in iPSC-derived neurons.

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Canavan disease, an autosomal recessive inherited leukodystrophy caused by an aspartoacylase deficiency, is common among children of Ashkenazi Jewish descent. We report on a non-Jewish female infant who presented at age 6 months with progressive macrocephaly and developmental delay. A sequence analysis of the aspartoacylase gene revealed compound heterozygosity for a known mutation and for the mutation c.

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Depressions increase reaction times and antidepressant treatment decreases them. Is it possible to get information, how these two conditions affect the stimulus-response pathway? Therefore, auditory and visual, left-hand and right-hand, simple and choice reaction times were measured in 38 patients with depression and 30 healthy control subjects. From these data, the minimal reaction times and the error rates were calculated.

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Physicians who prescribe medicaments to patients are the preferred target group of sales promotion by pharmaceutical industry. As studies show, pharmaceutical advertising actually exerts some influence on a physician's knowledge and habit of prescribing medicine, to the point of even inducing him to give preference to a special drug. Information on pharmaceuticals given by advertisements may contain some potential of bias, instead of offering the physician a chance of objectives additional training.

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Many anatomical and brain mapping studies show a higher bilateral symmetry of female brains and a higher asymmetry of male brains so correlations between simple visual and auditory, left- and right-hand reaction times were examined for such sex differences. 20 healthy women and 20 men were tested in two sessions. For women all six response times correlated with each other significantly in Session A, but in Session B there were only two significant interhemispheric correlations.

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