Search Results - "Eichler, Sabrina"

E-I balance and human diseases - from molecules to networking by Eichler, Sabrina A, Meier, Jochen C

“…Information transfer in the brain requires a homeostatic control of neuronal excitability. Therefore, a functional balance between excitatory and inhibitory…”
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C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease by Cozma, Claudia, Iurașcu, Marius-Ionuț, Eichler, Sabrina, Hovakimyan, Marina, Brandau, Oliver, Zielke, Susanne, Böttcher, Tobias, Giese, Anne-Katrin, Lukas, Jan, Rolfs, Arndt

“…Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene ( ASAH1 ). Low ceramidase activity results in the…”
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Glucosylsphingosine Causes Hematological and Visceral Changes in Mice-Evidence for a Pathophysiological Role in Gaucher Disease by Lukas, Jan, Cozma, Claudia, Yang, Fan, Kramp, Guido, Meyer, Anja, Neßlauer, Anna-Maria, Eichler, Sabrina, Böttcher, Tobias, Witt, Martin, Bräuer, Anja U, Kropp, Peter, Rolfs, Arndt

“…Glucosylceramide and glucosylsphingosine are the two major storage products in Gaucher disease (GD), an inherited metabolic disorder caused by a deficiency of…”
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Splice-specific roles of glycine receptor alpha 3 in the hippocampus by Eichler, Sabrina A, Foerstera, Benjamin, Smolinsky, Birthe, Juettner, Rene, Lehmann, Thomas-Nicolas, Faehling, Michael, Schwarz, Guenter, Legendre, Pascal, Meier, Jochen C

“…AbstractGlycine receptor (GlyR) alpha 3 is involved in vision, and processing of acoustic and nociceptive signals, and RNA editing of GLRA3 transcripts was…”
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Cardiac Troponin I: A Valuable Biomarker Indicating the Cardiac Involvement in Fabry Disease by Tanislav, Christian, Guenduez, Dursun, Liebetrau, Christoph, Giese, Anne Kathrin, Eichler, Sabrina, Sieweke, Nicole, Speth, Maria, Bauer, Timm, Hamm, Christian, Rolfs, Arndt

“…Assessment of the clinical severity of Fabry disease (FD), an X-linked, rare, progressive disorder based on a genetic defect in alpha-galactosidase is…”
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Identification of a Novel GLA Gene Mutation, p.Ile239Met, in Fabry Disease With a Predominant Cardiac Phenotype by Csányi, Beáta, Hategan, Lidia, Nagy, Viktória, Obál, Izabella, Varga, Edina T., Borbás, János, Tringer, Annamária, Eichler, Sabrina, Forster, Tamás, Rolfs, Arndt, Sepp, Róbert

“…Fabry disease (FD) is an X-linked inherited lysosomal storage disorder caused by mutations in the GLA gene, encoding for the enzyme α-galactosidase A. Although…”
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Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay by Cozma, Claudia, Eichler, Sabrina, Wittmann, Gyula, Flores Bonet, Alba, Kramp, Guido Johannes, Giese, Anne-Katrin, Rolfs, Arndt

“…Mucopolysaccharidosis IVA (MPS IVA; Morquio A disease) is an autosomal recessive disease caused and characterized by a decreased activity of…”
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Splice-specific Functions of Gephyrin in Molybdenum Cofactor Biosynthesis by Smolinsky, Birthe, Eichler, Sabrina A., Buchmeier, Sabine, Meier, Jochen C., Schwarz, Guenter

“…Gephyrin is a multifunctional protein involved in the clustering of inhibitory neuroreceptors. In addition, gephyrin catalyzes the last step in molybdenum…”
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Glycinergic tonic inhibition of hippocampal neurons with depolarizing GABAergic transmission elicits histopathological signs of temporal lobe epilepsy by Eichler, Sabrina A., Kirischuk, Sergei, Jüttner, René, Schafermeier, Philipp K., Legendre, Pascal, Lehmann, Thomas‐Nicolas, Gloveli, Tengis, Grantyn, Rosemarie, Meier, Jochen C.

“…An increasing number of epilepsy patients are afflicted with drug‐resistant temporal lobe epilepsy (TLE) and require alternative therapeutic approaches…”
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Identification of PKD1 and PKD2 gene variants in a cohort of 125 Asian Indian patients of ADPKD by Pandita, Shewata, Ramachandran, Vijaya, Balakrishnan, Prahlad, Rolfs, Arndt, Brandau, Oliver, Eichler, Sabrina, Bhalla, Anil Kumar, Khullar, Dinesh, Amitabh, Vindu, Ramanarayanan, Sivaramakrishnan, Kher, Vijay, Verma, Jyotsna, Kohli, Sudha, Saxena, Renu, Verma, Ishwar Chander

“…Autosomal Dominant Polycystic Kidney Disease (ADPKD) accounts for 2.6% of the patients with chronic kidney disease in India. ADPKD is caused by pathogenic…”
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Novel PORCN mutation in a severe case of Focal Dermal Hypoplasia by Ramirez‐Botero, Andres Felipe, Eichler, Sabrina, Rolfs, Arndt, Pachajoa, Harry

“…Focal dermal hypoplasia is a rare genetic disease characterized 8‐year‐old female who sought genetic counseling for multiple malformations, aggressive behavior…”
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Splice-specific roles of glycine receptor α3 in the hippocampus by Eichler, Sabrina A., Förstera, Benjamin, Smolinsky, Birthe, Jüttner, René, Lehmann, Thomas-Nicolas, Fähling, Michael, Schwarz, Günter, Legendre, Pascal, Meier, Jochen C.

“…Glycine receptor (GlyR) α3 is involved in vision, and processing of acoustic and nociceptive signals, and RNA editing of GLRA3 transcripts was associated with…”
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Functional and Clinical Consequences of Novel [alpha]-Galactosidase A Mutations in Fabry Disease by Lukas, Jan, Scalia, Simone, Eichler, Sabrina, Pockrandt, Anne-Marie, Dehn, Nicole, Cozma, Claudia, Giese, Anne-Katrin, Rolfs, Arndt

“…Fabry disease (FD) is a rare metabolic disorder of glycosphingolipid storage caused by mutations in the GLA gene encoding lysosomal hydrolase…”
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Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease by Lukas, Jan, Scalia, Simone, Eichler, Sabrina, Pockrandt, Anne-Marie, Dehn, Nicole, Cozma, Claudia, Giese, Anne-Katrin, Rolfs, Arndt

“…ABSTRACT Fabry disease (FD) is a rare metabolic disorder of glycosphingolipid storage caused by mutations in the GLA gene encoding lysosomal hydrolase…”
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Reductions in glucosylsphingosine (lyso-Gb1) in treatment-naïve and previously treated patients receiving velaglucerase alfa for type 1 Gaucher disease: Data from phase 3 clinical trials by Elstein, Deborah, Mellgard, Björn, Dinh, Quinn, Lan, Lan, Qiu, Yongchang, Cozma, Claudia, Eichler, Sabrina, Böttcher, Tobias, Zimran, Ari

“…Gaucher disease (GD), an autosomal recessive lipid storage disorder, arises from mutations in the GBA1 (β-glucocerebrosidase) gene, resulting in…”
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Glucosylsphingosine is a reliable response biomarker in Gaucher disease by Arkadir, David, Dinur, Tama, Revel‐Vilk, Shoshana, Becker Cohen, Michal, Cozma, Claudia, Hovakimyan, Marina, Eichler, Sabrina, Rolfs, Arndt, Zimran, Ari

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Glucosylsphingosine is a reliable response biomarker in G aucher disease by Arkadir, David, Dinur, Tama, Revel‐Vilk, Shoshana, Becker Cohen, Michal, Cozma, Claudia, Hovakimyan, Marina, Eichler, Sabrina, Rolfs, Arndt, Zimran, Ari

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Glucosylsphingosine concentration is the most reliable response-parameter for low-dose ERT in homozygous N370S Gaucher patients by Arkadir, David, Dinur, Tama, Revel-Vilk, Shoshana, Cohen, Michal Becker, Cozma, Claudia, Hovakimyan, Marina, Eichler, Sabrina, Rolfs, Arndt, Zimran, Ari

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C26-ceramide is a new and sensitive biomarker for Farber disease by Cozma, Claudia, Iurascu, Marius, Zielke, Susanne, Lukas, Jan, Eichler, Sabrina, Rolfs, Arndt

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Biochemical and genetic data in a large, worldwide Fabry cohort by Boettcher, Tobias, Cozma, Claudia, Iurascu, Marius, Kramp, Guido, Eichler, Sabrina, Lukas, Jan, Rolfs, Arndt

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