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Papers matching “lysosomal dysfunction” 22

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Constraint-based modelling of metabolic dysregulation in Gaucher disease: mitochondrial dysfunction and disrupted cholesterol homeostasis
2026 Orphanet Journal of Rare Diseases article Medicine Lysosomal Storage Disorders Research Open access

Yanjun Liu, Xi Luo, Samira Ranjbar, Johannes M. F. G. Aerts, Martijn van der Lienden, Andrea Dardis, +1 more

2

citations
A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders
2026 Journal of Inherited Metabolic Disease article Medicine Lysosomal Storage Disorders Research Open access

Éamon P McCarron, Nenad Blau, Emily R. Eden, Frances M. Platt, Johannes M. F. G. Aerts, Simon Allan Jones, +2 more

0

citations
Case report of progressive renal dysfunction as a consequence of amiodarone-induced phospholipidosis
2023 European Heart Journal - Case Reports article Medicine Acute Kidney Injury Research Open access

Mirjam D. Duineveld, Jesper Kers, Louis‐Jean Vleming

9

citations
Endothelial dysfunction in Fabry disease: retinal biomarkers link cardiac GLA gene variants with chronic inflammation
2026 npj Genomic Medicine article Medicine Lysosomal Storage Disorders Research Open access

Timon Wallraven, Claudia Regenbogen, Roman Günthner, Andrea Ribeiro, Javier Carbajo-Lozoya, Nora Hannane, +10 more

1

citations
Inhibition of intracellular versus extracellular cathepsin D differentially alters the liver lipidome of mice with metabolic dysfunction‐associated steatohepatitis
2024 FEBS Journal article Medicine Liver Disease Diagnosis and Treatment Open access

Isabeau Vermeulen, Mengying Li, Hester van Mourik, Tulasi Yadati, Gert B. Eijkel, Benjamin Balluff, +8 more

5

citations
Mitochondrial dysfunction in NPC1 ‐deficiency is not rescued by drugs targeting the glucosylceramidase GBA2 and the cholesterol‐binding proteins TSPO and StARD1
2024 FEBS Letters article Medicine Lysosomal Storage Disorders Research Open access

Simon Wheeler, Meenakshi Bhardwaj, Victor A. Kenyon, Maria J. Ferraz, Johannes M. F. G. Aerts, Daniel J. Sillence

0

citations
Additional file 1 of Constraint-based modelling of metabolic dysregulation in Gaucher disease: mitochondrial dysfunction and disrupted cholesterol homeostasis
2026 Figshare article Medicine Lysosomal Storage Disorders Research Open access

Yanjun Liu, Xi Luo, Samira Ranjbar, Johannes M. F. G. Aerts, Martijn van der Lienden, Andrea Dardis, +1 more

0

citations
Additional file 1 of Constraint-based modelling of metabolic dysregulation in Gaucher disease: mitochondrial dysfunction and disrupted cholesterol homeostasis
2026 Figshare article Medicine Lysosomal Storage Disorders Research Open access

Yanjun Liu, Xi Luo, Samira Ranjbar, Johannes M. F. G. Aerts, Martijn van der Lienden, Andrea Dardis, +1 more

0

citations
[Environmental factors and tubulointerstitial nephropathy : the paradigm of «chronic interstitial nephritis in agricultural communities» (CINAC)].
2026 PubMed article Agricultural and Biological Sciences Pesticide Exposure and Toxicity Open access

François Jouret, Benjamin Vervaet, Marc E. De Broe

0

citations
Nucleoside‐Modified mRNA Encoding Alpha‐Galactosidase A Ameliorates Fabry Disease Phenotypes in Human IPSC‐Derived Cardiomyocytes
2026 Advanced Science article Medicine Lysosomal Storage Disorders Research Open access

Malte Juchem, Lea Oehlsen, Sedef Ersoy, Jia Li Ye, Natalie Weber, Elisa Mohr, +18 more

0

citations
Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis
2023 Scientific Reports article Medicine Biomedical Research and Pathophysiology Open access

Tjessa Bondue, Sante Princiero Berlingerio, Florian Siegerist, Elena Sendino Garví, Maximilian Schindler, Hans J. Baelde, +10 more

12

citations
Renal and Extra Renal Manifestations in Adult Zebrafish Model of Cystinosis
2021 International Journal of Molecular Sciences article Medicine Biomedical Research and Pathophysiology Open access

Sante Princiero Berlingerio, Junling He, Lies De Groef, Harold Taeter, Tomás Norton, Pieter Baatsen, +6 more

5

citations
USP8 controls proteostasis pathways in B cells and multiple myeloma
2026 Leukemia article Biochemistry, Genetics and Molecular Biology Ubiquitin and proteasome pathways Open access

Almut Dufner, Fabien Théry, Gianni Monaco, Jelena Lazarevic, Oliver Gorka, Nina Chevalier, +16 more

1

citations
Biarylacetamides: a novel class of late-stage autophagy inhibitors
2025 Autophagy Reports article Medicine Autophagy in Disease and Therapy Open access

Rani Robeyns, Freke Mertens, Angela Sisto, Guido R.Y. De Meyer, Koen Augustyns, Maya Berg, +8 more

1

citations
Development of an AAV5-based gene therapy for Fabry disease
2020 Molecular Genetics and Metabolism article Medicine Lysosomal Storage Disorders Research

Ying Poi Liu, Jolanda M.P. Liefhebber, Tom van der Zon, Lieke Paerels, Maria J. Ferraz, Roelof Ottenhoff, +8 more

0

citations
Mitochondrial-Derived Vesicles—Link to Extracellular Vesicles and Implications in Cardiovascular Disease
2023 International Journal of Molecular Sciences article Biochemistry, Genetics and Molecular Biology Extracellular vesicles in disease Open access cited by 1 patent

Jonas Heyn, Marina Augusto Heuschkel, Claudia Goettsch

47

citations
Pathomechanisms of ALS8: altered autophagy and defective RNA binding protein (RBP) homeostasis due to the VAPB P56S mutation
2021 Cell Death and Disease article Medicine Amyotrophic Lateral Sclerosis Research Open access

Priyanka Tripathi, Haihong Guo, Alice Dreser, Alfred Yamoah, Antonio S. Sechi, Christopher Marvin Jesse, +12 more

25

citations
Right ventricular strain in Fabry disease: Prognostic implications
2022 International Journal of Cardiology article Medicine Lysosomal Storage Disorders Research Open access

Maria Chiara Meucci, Rosa Lillo, Federica Mango, Antonella Lombardo, Gaetano Antonio Lanza, Valentina Parisi, +5 more

6

citations
LDL receptor–mediated lipoprotein uptake fuels human CD4+ T cell polarization toward a c-MAF/IL-10– and FOXP3-driven phenotype
2026 JCI Insight article Immunology and Microbiology T-cell and B-cell Immunology Open access

Angela Markovska, Niels S. van Heusden, Dagmar Duijzer, Alejandra Bodelόn, Greta Rogani, Enric Mocholí, +12 more

0

citations
Analyzing the Therapeutic Efficacy of Bis-Choline-Tetrathiomolybdate in the Atp7b−/− Copper Overload Mouse Model
2021 Biomedicines article Nursing Trace Elements in Health Open access

Philipp Kim, Chengcheng Christine Zhang, Sven Thoröe‐Boveleth, Eva Miriam Buhl, Sabine Weiskirchen, Wolfgang Stremmel, +2 more

23

citations
Cathepsin A contributes to left ventricular remodeling by degrading extracellular superoxide dismutase in mice
2020 Journal of Biological Chemistry article Medicine Cardiac Fibrosis and Remodeling Open access

Mathias Hohl, Manuel Mayr, Alexander Georg Nickel, Javier Barallobre‐Barreiro, Xiaoke Yin, Thimoteus Speer, +11 more

22

citations
Lipid droplet dynamics in metabolic regulation
2026 RSC Chemical Biology article Biochemistry, Genetics and Molecular Biology Lipid metabolism and biosynthesis Open access

Ralf Weiskirchen, Sabine Weiskirchen, Amedeo Lonardo

9

citations

22 results