Malin Fromme
A5014530978- Protease and Inhibitor Mechanisms
- Peptidase Inhibition and Analysis
- Liver Disease Diagnosis and Treatment
- Endoplasmic Reticulum Stress and Disease
- Blood Coagulation and Thrombosis Mechanisms
- Phytase and its Applications
- Liver Disease and Transplantation
- Signaling Pathways in Disease
- Protein Kinase Regulation and GTPase Signaling
- Liver physiology and pathology
- Iron Metabolism and Disorders
- Cell Adhesion Molecules Research
- Folate and B Vitamins Research
- Cardiac Fibrosis and Remodeling
- Nutrition, Genetics, and Disease
- Systemic Sclerosis and Related Diseases
- Insect Resistance and Genetics
- T-cell and Retrovirus Studies
- PI3K/AKT/mTOR signaling in cancer
- Chemokine receptors and signaling
- Drug-Induced Hepatotoxicity and Protection
- Hepatitis C virus research
- GDF15 and Related Biomarkers
- Growth Hormone and Insulin-like Growth Factors
- Alkaline Phosphatase Research Studies
RWTH Aachen University
2019-2025
Universitätsklinikum Aachen
2019-2024
Istituto Giannina Gaslini
2022
European Association for the Study of Diabetes
2019
Objective Alpha-1 antitrypsin deficiency (AATD) is a common, potentially lethal inborn disorder caused by mutations in alpha-1 (AAT). Homozygosity for the ‘Pi*Z’ variant of AAT (Pi*ZZ genotype) causes lung and liver disease, whereas heterozygous carriage (Pi*MZ predisposes to gallstones fibrosis. The clinical significance more common ‘Pi*S’ remains largely undefined no robust data exist on prevalence tumours AATD. Design Baseline phenotypes AATD individuals non-carriers were analysed 482 380...
Since hepatocytes produce majority of serum proteins, patients with cirrhosis display substantial alterations in the proteome. The aim current study was to characterize these changes and prognostic utility hepatocellular proteins available routine clinical testing.Sera from 29 healthy controls 43 were subjected untargeted proteomic analysis. Unsupervised hierarchical clustering performed Perseus software R. Ingenuity pathway analysis (IPA) suggested upstream regulators that validated liver...
Abstract Protein misfolding diseases, including α1-antitrypsin deficiency (AATD), pose substantial health challenges, with their cellular progression still poorly understood 1–3 . We use spatial proteomics by mass spectrometry and machine learning to map AATD in human liver tissue. Combining Deep Visual Proteomics (DVP) single-cell analysis 4,5 , we probe intact patient biopsies resolve molecular events during hepatocyte stress pseudotime across fibrosis stages. achieve proteome depth of up...
Alpha-1-Antitrypsin (AAT) is a protein of the SERPINA1 gene. A single amino acid mutation (Lys342Glu) results in an expression misfolded Z-AAT protein, which has high propensity to intra- and extra-cellular polymerization. Here, we asked whether levels circulating polymers are associated with severity lung disease, liver or both. We obtained cross sectional data from Dutch part Alpha1 International Registry 52 ZZ-AAT patients who performed pulmonary function test donated blood sample on same...
Abstract Background Circulating polymerized mutant Z‐alpha‐1 antitrypsin (Z‐polymer) constitutes a characteristic feature in alpha‐1 deficiency (AATD), but there is limited knowledge about its association with adverse clinical outcomes and liver fibrosis. We explored this using data from large cohort of adults AATD. Methods A total 836 (431 PiZZ, 405 PiMZ) AATD 312 controls (PiMM) the European Alpha‐1 Liver Cohort (2015–2020) were included. Time‐to‐event analyses conducted for PiZZ genotype...
ABSTRACT Background and Aims The homozygous PiZ mutation (PIZZ genotype) constitutes the predominant cause of severe alpha‐1 antitrypsin (AAT) deficiency leads to liver disease via hepatocellular AAT aggregation. We systematically analysed composition aggregates studied impact bile acids. Methods inclusions were isolated from livers overexpressing mice PIZZ humans fluorescence‐activated immunomagnetic sorting (FACS/MACS), while insoluble proteins obtained Triton‐X extraction. Inclusion was...