Ferroptosis and its modulation by autophagy in light of the pathogenesis of lysosomal storage diseases

K Pierzynowska, E Rintz, L Gaffke, G Węgrzyn - Cells, 2021 - mdpi.com
Ferroptosis is one of the recently described types of cell death which is dependent on many
factors, including the accumulation of iron and lipid peroxidation. Its induction requires …

Hereditary hyperferritinemia

A Piperno, S Pelucchi, R Mariani - International Journal of Molecular …, 2023 - mdpi.com
Ferritin is a ubiquitous protein that is present in most tissues as a cytosolic protein. The
major and common role of ferritin is to bind Fe2+, oxidize it and sequester it in a safe form in …

Impaired iron recycling from erythrocytes is an early hallmark of aging

P Slusarczyk, PK Mandal, G Zurawska, M Niklewicz… - Elife, 2023 - elifesciences.org
Aging affects iron homeostasis, as evidenced by tissue iron loading and anemia in the
elderly. Iron needs in mammals are met primarily by iron recycling from senescent red blood …

Examining the Role of a Functional Deficiency of Iron in Lysosomal Storage Disorders with Translational Relevance to Alzheimer's Disease

SM LeVine - Cells, 2023 - mdpi.com
The recently presented Azalea Hypothesis for Alzheimer's disease asserts that iron
becomes sequestered, leading to a functional iron deficiency that contributes to …

Phagocytosis of erythrocytes from gaucher patients induces phenotypic modifications in macrophages, driving them toward gaucher cells

L Dupuis, M Chauvet, E Bourdelier, M Dussiot… - International Journal of …, 2022 - mdpi.com
Gaucher disease (GD) is caused by glucocerebrosidase deficiency leading to the
accumulation of sphingolipids in macrophages named “Gaucher's Cells”. These cells are …

Predicting the probability of Gaucher disease in subjects with splenomegaly and thrombocytopenia

I Motta, D Consonni, M Stroppiano, C Benedetto… - Scientific Reports, 2021 - nature.com
Hematologists are frequently involved in the diagnostic pathway of Gaucher disease type 1
(GD1) patients since they present several hematological signs. However, GD1 is mainly …

HAMP Downregulation Contributes to Aggressive Hepatocellular Carcinoma via Mechanism Mediated by Cyclin4-Dependent Kinase-1/STAT3 Pathway

Y Shen, X Li, Y Su, SA Badshah, B Zhang, Y Xue… - Diagnostics, 2019 - mdpi.com
Background: Hepcidin encoded by HAMP is vital to regulating proliferation, metastasis, and
migration. Hepcidin is secreted specifically by the liver. This study sought to examine the …

Liver involvement in Gaucher disease: A practical review for the hepatologist and the gastroenterologist

F Carubbi, MD Cappellini, S Fargion… - Digestive and Liver …, 2020 - Elsevier
Gaucher disease (GD), a rare lysosomal storage disorder caused by deficient
glucocerebrosidase activity and consequent accumulation of glycosphingolipids in the …

[HTML][HTML] Extrahepatic hepcidin production: The intriguing outcomes of recent years

R Daher, T Lefebvre, H Puy, Z Karim - World journal of clinical …, 2019 - ncbi.nlm.nih.gov
Hepcidin is the hyposideremic hormone regulating iron metabolism. It is a defensin-like
disulfide-bonded peptide with antimicrobial activity. The main site of hepcidin production is …

[HTML][HTML] Liver involvement in patients with Gaucher disease types I and III

RT Starosta, FP e Vairo, AD Dornelles… - Molecular Genetics and …, 2020 - Elsevier
Background & aims Gaucher disease (GD) is a multisystemic disease. Liver involvement in
GD is not well characterised and ranges from hepatomegaly to cirrhosis and hepatocellular …