Publications by authors named "Julia Bank"

6 Publications

  • Page 1 of 1

Renal Cell Carcinoma in the Head and Neck: Case Presentation of a Patient With a Rare Metastatic Pattern.

Cureus 2020 Dec 4;12(12):e11894. Epub 2020 Dec 4.

Otolaryngology - Head and Neck Surgery, Affiliated Ear Nose and Throat Physicians, Woodstock, USA.

Renal cell carcinoma is known for its metastatic potential, however, metastasis to the head and neck are rare. We present a 71-year-old man who presented with a palpable tongue mass. The positron-emission tomographic-computed tomographic scan revealed enhancements in the left tongue base, left thyroid, left shoulder musculature, right upper thigh, and right paratracheal mediastinal lymph nodes. Subsequent tongue and trapezius muscle biopsies had immunochemical stains consistent with renal cell carcinoma metastasis. This article discusses an uncommon metastatic pattern of renal cell carcinoma to the tongue and what is the second reported metastasis of renal cell carcinoma to the trapezius muscle.
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http://dx.doi.org/10.7759/cureus.11894DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7781885PMC
December 2020

Presynaptic GABA receptors functionally uncouple somatostatin interneurons from the active hippocampal network.

Elife 2020 Feb 19;9. Epub 2020 Feb 19.

Institute for Integrative Neuroanatomy, Charité - Universitätsmedizin Berlin, Berlin, Germany.

Information processing in cortical neuronal networks relies on properly balanced excitatory and inhibitory neurotransmission. A ubiquitous motif for maintaining this balance is the somatostatin interneuron (SOM-IN) feedback microcircuit. Here, we investigated the modulation of this microcircuit by presynaptic GABA receptors (GABARs) in the rodent hippocampus. Whole-cell recordings from SOM-INs revealed that both excitatory and inhibitory synaptic inputs are strongly inhibited by GABARs, while optogenetic activation of the interneurons shows that their inhibitory output is also strongly suppressed. Electron microscopic analysis of immunogold-labelled freeze-fracture replicas confirms that GABARs are highly expressed presynaptically at both input and output synapses of SOM-INs. Activation of GABARs selectively suppresses the recruitment of SOM-INs during gamma oscillations induced in vitro. Thus, axonal GABARs are positioned to efficiently control the input and output synapses of SOM-INs and can functionally uncouple them from local network with implications for rhythmogenesis and the balance of entorhinal versus intrahippocampal afferents.
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http://dx.doi.org/10.7554/eLife.51156DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7060044PMC
February 2020

An ER Assembly Line of AMPA-Receptors Controls Excitatory Neurotransmission and Its Plasticity.

Neuron 2019 11 8;104(4):680-692.e9. Epub 2019 Oct 8.

Institute of Physiology, Faculty of Medicine, University of Freiburg, Hermann-Herder-Str. 7, 79104 Freiburg, Germany; Center for Biological Signaling Studies (BIOSS) and Center for Integrative Signalling Studies (CIBSS), Schänzlestr. 18, 79104 Freiburg, Germany. Electronic address:

Excitatory neurotransmission and its activity-dependent plasticity are largely determined by AMPA-receptors (AMPARs), ion channel complexes whose cell physiology is encoded by their interactome. Here, we delineate the assembly of AMPARs in the endoplasmic reticulum (ER) of native neurons as multi-state production line controlled by distinct interactome constituents: ABHD6 together with porcupine stabilizes pore-forming GluA monomers, and the intellectual-disability-related FRRS1l-CPT1c complexes promote GluA oligomerization and co-assembly of GluA tetramers with cornichon and transmembrane AMPA-regulatory proteins (TARP) to render receptor channels ready for ER exit. Disruption of the assembly line by FRRS1l deletion largely reduces AMPARs in the plasma membrane, impairs synapse formation, and abolishes activity-dependent synaptic plasticity, while FRRS1l overexpression has the opposite effect. As a consequence, FRSS1l knockout mice display severe deficits in learning tasks and behavior. Our results provide mechanistic insight into the stepwise biogenesis of AMPARs in native ER membranes and establish FRRS1l as a powerful regulator of synaptic signaling and plasticity.
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http://dx.doi.org/10.1016/j.neuron.2019.08.033DOI Listing
November 2019

Munc13-3 Is Required for the Developmental Localization of Ca Channels to Active Zones and the Nanopositioning of Ca2.1 Near Release Sensors.

Cell Rep 2018 02;22(8):1965-1973

Carl-Ludwig-Institute for Physiology, Medical Faculty, University of Leipzig, Liebigstrasse 27, 04103 Leipzig, Germany. Electronic address:

Spatial relationships between Ca channels and release sensors at active zones (AZs) are a major determinant of synaptic fidelity. They are regulated developmentally, but the underlying molecular mechanisms are largely unclear. Here, we show that Munc13-3 regulates the density of Ca2.1 and Ca2.2 channels, alters the localization of Ca2.1, and is required for the development of tight, nanodomain coupling at parallel-fiber AZs. We combined EGTA application and Ca-channel pharmacology in electrophysiological and two-photon Ca imaging experiments with quantitative freeze-fracture immunoelectron microscopy and mathematical modeling. We found that a normally occurring developmental shift from release being dominated by Ca influx through Ca2.1 and Ca2.2 channels with domain overlap and loose coupling (microdomains) to a nanodomain Ca2.1 to sensor coupling is impaired in Munc13-3-deficient synapses. Thus, at AZs lacking Munc13-3, release remained triggered by Ca2.1 and Ca2.2 microdomains, suggesting a critical role of Munc13-3 in the formation of release sites with calcium channel nanodomains.
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http://dx.doi.org/10.1016/j.celrep.2018.02.010DOI Listing
February 2018

Tyrosine kinase 2 is not limiting human antiviral type III interferon responses.

Eur J Immunol 2016 11 5;46(11):2639-2649. Epub 2016 Oct 5.

Center for Chronic Immunodeficiency, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany.

Tyrosine kinase 2 (TYK2) associates with interferon (IFN) alpha receptor, IL-10 receptor (IL-10R) beta and other cytokine receptor subunits for signal transduction, in response to various cytokines, including type-I and type-III IFNs, IL-6, IL-10, IL-12 and IL-23. Data on TYK2 dependence on cytokine responses and in vivo consequences of TYK2 deficiency are inconsistent. We investigated a TYK2 deficient patient, presenting with eczema, skin abscesses, respiratory infections and IgE levels >1000 U/mL, without viral or mycobacterial infections and a corresponding cellular model to analyze the role of TYK2 in type-III IFN mediated responses and NK-cell function. We established a novel simple diagnostic monocyte assay to show that the mutation completely abolishes the IFN-α mediated antiviral response. It also partly reduces IL-10 but not IL-6 mediated signaling associated with reduced IL-10Rβ expression. However, we found almost normal type-III IFN signaling associated with minimal impairment of virus control in a TYK2 deficient human cell line. Contrary to observations in TYK2 deficient mice, NK-cell phenotype and function, including IL-12/IL-18 mediated responses, were normal in the patient. Thus, preserved type-III IFN responses and normal NK-cell function may contribute to antiviral protection in TYK2 deficiency leading to a surprisingly mild human phenotype.
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http://dx.doi.org/10.1002/eji.201646519DOI Listing
November 2016

Mutations in AP3D1 associated with immunodeficiency and seizures define a new type of Hermansky-Pudlak syndrome.

Blood 2016 Feb 7;127(8):997-1006. Epub 2016 Jan 7.

Center for Chronic Immunodeficiency, University Medical Center Freiburg, Freiburg, Germany; Center for Pediatrics and Adolescent Medicine, University Medical Center, Freiburg, Germany.

Genetic disorders affecting biogenesis and transport of lysosome-related organelles are heterogeneous diseases frequently associated with albinism. We studied a patient with albinism, neutropenia, immunodeficiency, neurodevelopmental delay, generalized seizures, and impaired hearing but with no mutation in genes so far associated with albinism and immunodeficiency. Whole exome sequencing identified a homozygous mutation in AP3D1 that leads to destabilization of the adaptor protein 3 (AP3) complex. AP3 complex formation and the degranulation defect in patient T cells were restored by retroviral reconstitution. A previously described hypopigmented mouse mutant with an Ap3d1 null mutation (mocha strain) shares the neurologic phenotype with our patient and shows a platelet storage pool deficiency characteristic of Hermansky-Pudlak syndrome (HPS) that was not studied in our patient because of a lack of bleeding. HPS2 caused by mutations in AP3B1A leads to a highly overlapping phenotype without the neurologic symptoms. The AP3 complex exists in a ubiquitous and a neuronal form. AP3D1 codes for the AP3δ subunit of the complex, which is essential for both forms. In contrast, the AP3β3A subunit, affected in HPS2 patients, is substituted by AP3β3B in the neuron-specific heterotetramer. AP3δ deficiency thus causes a severe neurologic disorder with immunodeficiency and albinism that we propose to classify as HPS10.
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http://dx.doi.org/10.1182/blood-2015-09-671636DOI Listing
February 2016