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  • 1
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    Konzeptionelle Grundfragen eines Kinderleistungsausgleichs im Rahmen einer umlagefinanzierten zwangsweisen Rentenversicherung (2021)
    Peter Lang International Academic Publishing Group
    Details
    Publication Date: 2022-05-12
    Description: Die Arbeit untersucht die Bedeutung von Kindern für eine umlagefinanzierte Rentenversicherung. Nach einer Thematisierung grundsätzlicher Fragestellungen wird für verschiedene «Idealtypen» von Umlageverfahren der jeweilige «materielle» Wert von Kindern verdeutlicht. Anschließend erfolgt eine Simulation der distributiven Wirkungen einer Berücksichtigung «generativer Leistungen». Die gewonnenen Erkenntnisse werden dann zu einer Beurteilung der Berücksichtigung der Kindererziehung im gegenwärtigen deutschen Rentenrecht herangezogen.
    Keywords: Bauer ; einer ; eines ; Grundfragen ; Kinderleistungsausgleich ; Kinderleistungsausgleichs ; Konzeptionelle ; Rahmen ; Rentenversicherung ; umlagefinanzierten ; zwangsweisen ; bic Book Industry Communication::J Society & social sciences::JP Politics & government::JPA Political science & theory ; bic Book Industry Communication::K Economics, finance, business & management::KC Economics::KCA Economic theory & philosophy ; bic Book Industry Communication::K Economics, finance, business & management::KC Economics::KCB Macroeconomics::KCBM Monetary economics ; bic Book Industry Communication::K Economics, finance, business & management::KC Economics::KCR Welfare economics ; bic Book Industry Communication::K Economics, finance, business & management::KC Economics::KCS Economic systems & structures
    Language: German
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  • 2
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    Genes, Vol. 8, Pages 276: Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias (2017)
    Molecular Diversity Preservation International (MDPI)
    In: Genes
    Details
    Publication Date: 2017-10-19
    Description: Genes, Vol. 8, Pages 276: Functional Characterization of Rare RAB12 Variants and Their Role in Musician’s and Other Dystonias Genes doi: 10.3390/genes8100276 Authors: Eva Hebert Friederike Borngräber Alexander Schmidt Aleksandar Rakovic Ingrid Brænne Anne Weissbach Jennie Hampf Eva-Juliane Vollstedt Leopold Größer Susen Schaake Michaela Müller Humera Manzoor Hans-Christian Jabusch Daniel Alvarez-Fischer Meike Kasten Vladimir Kostic Thomas Gasser Kirsten Zeuner Han-Joon Kim Beomseok Jeon Peter Bauer Eckart Altenmüller Christine Klein Katja Lohmann Mutations in RAB (member of the Ras superfamily) genes are increasingly recognized as cause of a variety of disorders including neurological conditions. While musician’s dystonia (MD) and writer’s dystonia (WD) are task-specific movement disorders, other dystonias persistently affect postures as in cervical dystonia. Little is known about the underlying etiology. Next-generation sequencing revealed a rare missense variant (c.586A>G; p.Ile196Val) in RAB12 in two of three MD/WD families. Next, we tested 916 additional dystonia patients; 512 Parkinson’s disease patients; and 461 healthy controls for RAB12 variants and identified 10 additional carriers of rare missense changes among dystonia patients (1.1%) but only one carrier in non-dystonic individuals (0.1%; p = 0.005). The detected variants among index patients comprised p.Ile196Val (n = 6); p.Ala174Thr (n = 3); p.Gly13Asp; p.Ala148Thr; and p.Arg181Gln in patients with MD; cervical dystonia; or WD. Two relatives of MD patients with WD also carried p.Ile196Val. The two variants identified in MD patients (p.Ile196Val; p.Gly13Asp) were characterized on endogenous levels in patient-derived fibroblasts and in two RAB12-overexpressing cell models. The ability to hydrolyze guanosine triphosphate (GTP), so called GTPase activity, was increased in mutants compared to wildtype. Furthermore, subcellular distribution of RAB12 in mutants was altered in fibroblasts. Soluble Transferrin receptor 1 levels were reduced in the blood of all three tested p.Ile196Val carriers. In conclusion, we demonstrate an enrichment of missense changes among dystonia patients. Functional characterization revealed altered enzyme activity and lysosomal distribution in mutants suggesting a contribution of RAB12 variants to MD and other dystonias.
    Electronic ISSN: 2073-4425
    Topics: Biology
    Published by Molecular Diversity Preservation International (MDPI)
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