Browsing Molekulare Medizin by Advisor & Referee "Gärtner, Jutta Prof. Dr."
Now showing items 1-8 of 8
-
Effects of histone 3.3K27M-mutation on CREB binding protein (CBP/p300)- and bromodomain and extra terminal domain (BET) protein- mediated gene regulation in diffuse intrinsic pontine gliomas (DIPG)
(2023-04-25)Diffuse intrinsic pontine gliomas (DIPG) are incurable pediatric high-grade tumors. The majority of all DIPG carries a mutation in one of the histone 3 genes leading to a substitution of lysine 27 to methionine (H3 K27M) ... -
HID1 as a novel disease-causing gene in early onset neurological disorders: molecular, functional and phenotypic studies
(2022-09-07)Rare neurological diseases with genetic causes are gaining relevance for child morbidity and mortality due to improvements in health care, prevention and treatment of conventional life-limiting diseases in infants. Emerging ... -
Central nervous system intrinsic inflammation as driver and therapeutic target of progression in multiple sclerosis
(2022-01-25)Controlling disease progression in multiple sclerosis (MS) remains a major challenge. Progression of MS is defined as an increase in neurological disability occurring independently of relapses or focal MRI-detectable ... -
Constitutive heterogeneity and response diversity of microglia in pathological conditions
(2016-12-16)Microglia, resident myeloid cells of the CNS, execute an enormous variety of different functions like tissue surveillance, nursing of synapses, phagocytosis of foreign material or debris, and initiation of appropriate ... -
Characterization of peroxisomes and peroxisome deficient cell lines by super-resolution microscopy and biochemical methods
(2016-11-25)Stimulated Transmission Emission Depletion (STED) microscopy was used to characterize the nanoscopic morphology of wild-type peroxisomes under normal and proliferative conditions in mammalian cells and in yeast Saccharomyces ... -
Cellular and subcellular analysis of peripheral neuropathy caused by peroxisomal dysfunction in mice
(2016-11-09)Fast signal propagation and long-term integrity of myelinated axons rely on precise axo-glial interactions. A role for myelin-associated peroxisomes in facilitating axonal support by glial cells was demonstrated in a mouse ... -
Lactate dehydrogenase is C-terminally extended by stop codon read-through which targets this isoform into the peroxisomes
(2016-08-12)In this work, the functional significance of stop codon read-through was investigated in relation to the human peroxisomes. When the ribosomes translating a messenger RNA encounter a stop codon, they usually stop the ... -
Dysferlin and its role in the pathogenesis of muscular dystrophy
(2013-11-21)Dysferlin is a multi C2 domain protein that belongs to the ferlin family and is localized to the T-tubule system in skeletal muscle fibers. It is involved in skeletal muscle membrane repair, regeneration and T-tubule ...