Search Results - "Buers, Insa"

CRLF1 and CLCF1 in Development, Health and Disease by Crisponi, Laura, Buers, Insa, Rutsch, Frank

“…Cytokines and their receptors have a vital function in regulating various processes such as immune function, inflammation, haematopoiesis, cell growth and…”
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ENPP1-Fc prevents neointima formation in generalized arterial calcification of infancy through the generation of AMP by Nitschke, Yvonne, Yan, Yan, Buers, Insa, Kintziger, Kristina, Askew, Kim, Rutsch, Frank

“…Generalized arterial calcification of infancy (GACI) is associated with widespread arterial calcification and stenoses and is caused by mutations in ENPP1 …”
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A Specific IFIH1 Gain-of-Function Mutation Causes Singleton-Merten Syndrome by Rutsch, Frank, MacDougall, Mary, Lu, Changming, Buers, Insa, Mamaeva, Olga, Nitschke, Yvonne, Rice, Gillian I., Erlandsen, Heidi, Kehl, Hans Gerd, Thiele, Holger, Nürnberg, Peter, Höhne, Wolfgang, Crow, Yanick J., Feigenbaum, Annette, Hennekam, Raoul C.

“…Singleton-Merten syndrome (SMS) is an infrequently described autosomal-dominant disorder characterized by early and extreme aortic and valvular calcification,…”
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Improved Reversion of Calcifications in Porcine Aortic Heart Valves Using Elastin-Targeted Nanoparticles by Feldmann, Anja, Nitschke, Yvonne, Linß, Franziska, Mulac, Dennis, Stücker, Sina, Bertrand, Jessica, Buers, Insa, Langer, Klaus, Rutsch, Frank

“…Calcified aortic valve disease in its final stage leads to aortic valve stenosis, limiting cardiac function. To date, surgical intervention is the only option…”
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Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism by Coelho, David, Kim, Jaeseung C, Miousse, Isabelle R, Fung, Stephen, du Moulin, Marcel, Buers, Insa, Suormala, Terttu, Burda, Patricie, Frapolli, Michele, Stucki, Martin, Nürnberg, Peter, Thiele, Holger, Robenek, Horst, Höhne, Wolfgang, Longo, Nicola, Pasquali, Marzia, Mengel, Eugen, Watkins, David, Shoubridge, Eric A, Majewski, Jacek, Rosenblatt, David S, Fowler, Brian, Rutsch, Frank, Baumgartner, Matthias R

“…Brian Fowler, David Rosenblatt and colleagues show that mutations in the ABC transporter gene ABCD4 cause a new inborn error of vitamin B 12 metabolism. ABCD4…”
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Adipophilin-enriched domains in the ER membrane are sites of lipid droplet biogenesis by Robenek, Horst, Hofnagel, Oliver, Buers, Insa, Robenek, Mirko J, Troyer, David, Severs, Nicholas J

“…The prevailing hypothesis of lipid droplet biogenesis proposes that neutral lipids accumulate within the lipid bilayer of the ER membrane from where they are…”
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MDA5-Associated Neuroinflammation and the Singleton-Merten Syndrome: Two Faces of the Same Type I Interferonopathy Spectrum by Buers, Insa, Rice, Gillian I, Crow, Yanick J, Rutsch, Frank

“…In 1973, Singleton and Merten described a new syndrome in 2 female probands with aortic and cardiac valve calcifications, early loss of secondary dentition,…”
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Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism by Rutsch, Frank, Gailus, Susann, Miousse, Isabelle R, Suormala, Terttu, Sagné, Corinne, Toliat, Mohammad Reza, Nürnberg, Gudrun, Wittkampf, Tanja, Buers, Insa, Sharifi, Azita, Stucki, Martin, Becker, Christian, Baumgartner, Matthias, Robenek, Horst, Marquardt, Thorsten, Höhne, Wolfgang, Gasnier, Bruno, Rosenblatt, David S, Fowler, Brian, Nürnberg, Peter

“…Frank Rutsch and colleagues show that the cblF inborn error of vitamin B 12 metabolism, which is characterized by accumulation of free vitamin B 12 in…”
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SR-PSOX at sites predisposed to atherosclerotic lesion formation mediates monocyte-endothelial cell adhesion by Hofnagel, Oliver, Engel, Thomas, Severs, Nicholas J, Robenek, Horst, Buers, Insa

“…Abstract Objective : The scavenger receptor SR-PSOX/CXCL16, which is identical to the chemokine CXCL16, is thought to be involved in atherogenesis. However,…”
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Butyrophilin Controls Milk Fat Globule Secretion by Robenek, Horst, Hofnagel, Oliver, Buers, Insa, Lorkowski, Stefan, Schnoor, Michael, Robenek, Mirko J., Heid, Hans, Troyer, David, Severs, Nicholas J.

“…The molecular mechanism underlying milk fat globule secretion in mammary epithelial cells ostensibly involves the formation of complexes between plasma…”
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Compartmentalization of proteins in lipid droplet biogenesis by Robenek, Horst, Buers, Insa, Hofnagel, Oliver, Robenek, Mirko J., Troyer, David, Severs, Nicholas J.

“…Our existing understanding of the structure, protein organization and biogenesis of the lipid droplet has relied heavily on microscopical techniques that lack…”
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Generation of induced pluripotent stem cell lines from a Crisponi/Cold induced sweating syndrome type 1 individual by Schöning, Lara, Loges, Niki Tomas, Nitschke, Yvonne, Höben, Inga Marlena, Röpke, Albrecht, Crisponi, Laura, Omran, Heymut, Rutsch, Frank, Buers, Insa

“…Cytokine receptor like factor 1 (CRLF1) is the gene implicated, when mutated, in Crisponi syndrome/cold-induced sweating syndrome type 1 (CS/CISS1). Here, we…”
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Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line by Buers, Insa, Schöning, Lara, Tomas Loges, Niki, Nitschke, Yvonne, Höben, Inga Marlena, Röpke, Albrecht, Crisponi, Laura, Omran, Heymut, Rutsch, Frank

“…Crisponi syndrome/cold-induced sweating syndrome type 2 (CS/CISS2) is a rare disease with severe dysfunctions of thermoregulatory processes. CS/CISS2…”
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TIP47, a Lipid Cargo Protein Involved in Macrophage Triglyceride Metabolism by BUERS, Insa, ROBENEK, Horst, LORKOWSKI, Stefan, NITSCHKE, Yvonne, SEVERS, Nicholas J, HOFNAGEL, Oliver

“…Uptake of lipids by macrophages (MPhi) leads to lipid droplet accumulation and foam cell formation. The PAT family proteins are implicated in lipid droplet…”
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Lipid Droplets Gain PAT Family Proteins by Interaction with Specialized Plasma Membrane Domains by Robenek, Horst, Robenek, Mirko J., Buers, Insa, Lorkowski, Stefan, Hofnagel, Oliver, Troyer, David, Severs, Nicholas J.

“…Proteins of the PAT family, named after perilipin, adipophilin, and TIP47 (tail-interacting protein of 47 kDa), are associated with lipid droplets and have…”
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Hereditary Disorders of Cardiovascular Calcification by Rutsch, Frank, Buers, Insa, Nitschke, Yvonne

“…Arterial calcification is a common phenomenon in the elderly, in patients with atherosclerosis or renal failure and in diabetes. However, when present in very…”
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Topography of Lipid Droplet-Associated Proteins: Insights from Freeze-Fracture Replica Immunogold Labeling by Robenek, Horst, Buers, Insa, Robenek, Mirko J., Hofnagel, Oliver, Ruebel, Anneke, Troyer, David, Severs, Nicholas J.

“…Lipid droplets are not merely storage depots for superfluous intracellular lipids in times of hyperlipidemic stress, but metabolically active organelles…”
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Novel interferonopathies associated with mutations in RIG-I like receptors by Buers, Insa, Nitschke, Yvonne, Rutsch, Frank

“…Highlights • Interferonopathies reflect a newly recognised entity with increased type I interferon levels and overlapping phenotypes. • In the attached review,…”
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Effects of Different Variants in the ENPP1 Gene on the Functional Properties of Ectonucleotide Pyrophosphatase/Phosphodiesterase Family Member 1 by Stella, Jacqueline, Buers, Insa, van de Wetering, Koen, Höhne, Wolfgang, Rutsch, Frank, Nitschke, Yvonne

“…ABSTRACT Ectonucleotide pyrophosphatase/phosphodiesterase family member 1 (E‐NPP1), encoded by ENPP1, is a plasma membrane protein that generates inorganic…”
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Lmbrd1 expression is essential for the initiation of gastrulation by Buers, Insa, Pennekamp, Petra, Nitschke, Yvonne, Lowe, Chrishanthi, Skryabin, Boris V., Rutsch, Frank

“…The rare inborn cblF defect of cobalamin metabolism is caused by mutations in the limb region 1 (LMBR1) domain containing 1 gene (LMBRD1). This defect is…”
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