Zobrazeno 1 - 10
of 14
pro vyhledávání: '"Martina, Zandl-Lang"'
Autor:
Yingyi Zhang, Patricia M. Dijkman, Rongfeng Zou, Martina Zandl-Lang, Ricardo M. Sanchez, Luise Eckhardt-Strelau, Harald Köfeler, Horst Vogel, Shuguang Yuan, Mikhail Kudryashev
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Pentameric ligand-gated ion channels (pLGICs) are key players in neurotransmission and have been shown to be modulated by the lipid environment, however the underlying mechanism is not well understood. Here, the authors report structures of the pLGIC
Externí odkaz:
https://doaj.org/article/c3dc1144479e42dfbcbc8d743307e558
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 2, p 1709 (2023)
Even though the application of Next-Generation Sequencing (NGS) has significantly facilitated the identification of disease-associated mutations, the diagnostic rate of rare diseases is still below 50%. This causes a diagnostic odyssey and prevents s
Externí odkaz:
https://doaj.org/article/859315a5d7c94b76b5ec44e9299e825c
Autor:
Martina Zandl-Lang, Thomas Züllig, Martin Trötzmüller, Yvonne Naegelin, Lucia Abela, Bernd Wilken, Sabine Scholl-Buergi, Daniela Karall, Ludwig Kappos, Harald Köfeler, Barbara Plecko
Publikováno v:
Metabolites, Vol 12, Iss 4, p 291 (2022)
Rett syndrome (RTT) is defined as a rare disease caused by mutations of the methyl-CpG binding protein 2 (MECP2). It is one of the most common causes of genetic mental retardation in girls, characterized by normal early psychomotor development, follo
Externí odkaz:
https://doaj.org/article/64194d3322854e6aa3836f9cb85ae727
Autor:
Thomas Züllig, Martina Zandl-Lang, Martin Trötzmüller, Jürgen Hartler, Barbara Plecko, Harald C. Köfeler
Publikováno v:
Metabolites, Vol 10, Iss 9, p 342 (2020)
In the highly dynamic field of metabolomics, we have developed a method for the analysis of hydrophilic metabolites in various biological samples. Therefore, we used hydrophilic interaction chromatography (HILIC) for separation, combined with a high-
Externí odkaz:
https://doaj.org/article/fc68b225bdda4bf185f290348748ae35
Autor:
Martina, Zandl-Lang
Supplementary information for the manuscript "Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome" by Zandl-lang et al. Table S1: Loading plot of CSF samples, Table S2: Loading plot of plasma samples, Table S3: Wilco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5c2af02509763ca6de565cd231a41026
Autor:
Lisa M. Crowther, Martin Poms, Martina Zandl‐Lang, Lucia Abela, Hans Hartmann, Michelle Seiler, Déborah Mathis, Barbara Plecko
AIM Deficiency of antiquitin (α-aminoadipic semialdehyde dehydrogenase ), an enzyme involved in lysine degradation and encoded by ALDH7A1, is the major cause of vitamin B6 -dependent epilepsy (PDE-ALDH7A1). Despite seizure control with high dose pyr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::81e69780bd3b99006172f0e529c13fe5
Autor:
Harald Köfeler, Luise Eckhardt-Strelau, Horst Vogel, Pratricia M. Dijkman, Yingyi Zhang, Rongfeng Zou, Ricardo M. Sanchez, Martina Zandl-Lang, Shuguang Yuan, Mikhail Kudryashev
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Pentameric ligand-gated ion channels (pLGICs) of the Cys-loop receptor family are key players in fast signal transduction throughout the nervous system. They have been shown to be modulated by the lipid environment, however the underlying mechanism i
Autor:
Chaitanya Chakravarthi, Gali, Elham, Fanaee-Danesh, Martina, Zandl-Lang, Nicole Maria, Albrecher, Carmen, Tam-Amersdorfer, Anika, Stracke, Vinay, Sachdev, Florian, Reichmann, Yidan, Sun, Afrim, Avdili, Marielies, Reiter, Dagmar, Kratky, Peter, Holzer, Achim, Lass, Karunya K, Kandimalla, Ute, Panzenboeck
Publikováno v:
Molecular and cellular neurosciences
Aberrant insulin signaling constitutes an early change in Alzheimer's disease (AD). Insulin receptors (IR) and low-density lipoprotein receptor-related protein-1 (LRP-1) are expressed in brain capillary endothelial cells (BCEC) forming the blood-brai
Autor:
Anil Paul Chirackal Manavalan, Anna Colell, Yidan Sun, Ute Panzenboeck, Nicole Maria Albrecher, Ernst Malle, Elham Fanaee-Danesh, Vicente Roca Agujetas, Martina Zandl-Lang, Frank Madeo, Jelena Tadic, Anika Stracke, Carmen Tam-Amersdorfer, Marielies Reiter, Cristina de Dios, Chaitanya Chakravarthi Gali, Alexandra Kober
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
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instname
The pathogenesis of Alzheimer's disease (AD) is characterized by overproduction, impaired clearance, and deposition of amyloid-β peptides (Aβ) and connected to cholesterol homeostasis. Since the blood-brain barrier (BBB) is involved in these proces
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9cdd79645719e9a81015558563212893
http://hdl.handle.net/10261/201312
http://hdl.handle.net/10261/201312
Autor:
Harald Köfeler, Martina Zandl-Lang, Martin Trötzmüller, Thomas Züllig, Jürgen Hartler, Barbara Plecko
Publikováno v:
Metabolites
Volume 10
Issue 9
Metabolites, Vol 10, Iss 342, p 342 (2020)
Volume 10
Issue 9
Metabolites, Vol 10, Iss 342, p 342 (2020)
In the highly dynamic field of metabolomics, we have developed a method for the analysis of hydrophilic metabolites in various biological samples. Therefore, we used hydrophilic interaction chromatography (HILIC) for separation, combined with a high-