Martina Zandl-Lang
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Explore the profile of Martina Zandl-Lang including associated specialties, affiliations and a list of published articles.
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10
Citations
168
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Recent Articles
1.
Zandl-Lang M, Zullig T, Holzer M, Eichmann T, Darnhofer B, Schwerin-Nagel A, et al.
J Neurol
. 2025 Feb;
272(3):183.
PMID: 39904776
Spinal muscular atrophy (SMA) is a rare neuromuscular disease caused by biallelic mutations in the SMN1 gene, leading to progressive muscle weakness due to degeneration of the anterior horn cells....
2.
Zandl-Lang M
Biochim Biophys Acta Mol Cell Biol Lipids
. 2024 Apr;
1869(5):159491.
PMID: 38565373
Inborn errors of metabolism (IEM) represent a heterogeneous group of more than 1800 rare disorders, many of which are causing significant childhood morbidity and mortality. More than 100 IEM are...
3.
Zandl-Lang M, Plecko B, Kofeler H
Int J Mol Sci
. 2023 Jan;
24(2).
PMID: 36675224
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...
4.
Crowther L, Poms M, Zandl-Lang M, Abela L, Hartmann H, Seiler M, et al.
J Inherit Metab Dis
. 2022 Oct;
46(1):129-142.
PMID: 36225138
Deficiency of antiquitin (α-aminoadipic semialdehyde dehydrogenase), an enzyme involved in lysine degradation and encoded by ALDH7A1, is the major cause of vitamin B -dependent epilepsy (PDE-ALDH7A1). Despite seizure control with...
5.
Zandl-Lang M, Zullig T, Trotzmuller M, Naegelin Y, Abela L, Wilken B, et al.
Metabolites
. 2022 Apr;
12(4).
PMID: 35448478
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...
6.
Zhang Y, Dijkman P, Zou R, Zandl-Lang M, Sanchez R, Eckhardt-Strelau L, et al.
Nat Commun
. 2021 Feb;
12(1):1074.
PMID: 33594077
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...
7.
Zullig T, Zandl-Lang M, Trotzmuller M, Hartler J, Plecko B, Kofeler H
Metabolites
. 2020 Aug;
10(9).
PMID: 32854199
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...
8.
Gali C, Fanaee-Danesh E, Zandl-Lang M, Albrecher N, Tam-Amersdorfer C, Stracke A, et al.
Mol Cell Neurosci
. 2019 Jul;
99:103390.
PMID: 31276749
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...
9.
Fanaee-Danesh E, Gali C, Tadic J, Zandl-Lang M, Carmen Kober A, Agujetas V, et al.
Biochim Biophys Acta Mol Basis Dis
. 2019 May;
1865(9):2224-2245.
PMID: 31055081
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...
10.
Sun Y, Kopp S, Strutz J, Gali C, Zandl-Lang M, Fanaee-Danesh E, et al.
Biochim Biophys Acta Mol Cell Biol Lipids
. 2018 May;
1863(9):968-979.
PMID: 29778664
Gestational diabetes mellitus (GDM) is associated with excessive oxidative stress which may affect placental vascular function. Cholesterol homeostasis is crucial for maintaining fetoplacental endothelial function. We aimed to investigate whether...