GBA1 Gene Mutations in α-Synucleinopathies—Molecular Mechanisms Underlying Pathology and Their Clinical Significance

Z Granek, J Barczuk, N Siwecka… - International Journal of …, 2023 - mdpi.com
α-Synucleinopathies comprise a group of neurodegenerative diseases characterized by
altered accumulation of a protein called α-synuclein inside neurons and glial cells. This …

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 …

[HTML][HTML] A review on Gaucher disease: therapeutic potential of β-glucocerebrosidase-targeted mRNA/saRNA approach

S Feng, N Rcheulishvili, X Jiang, P Zhu… - … Journal of Biological …, 2024 - ncbi.nlm.nih.gov
Gaucher disease (GD), a rare hereditary lysosomal storage disorder, occurs due to a
deficiency in the enzyme β-glucocerebrosidase (GCase). This deficiency leads to the …

Enzyme replacement therapy improves erythropoiesis and iron dysregulation in Gaucher disease

I Motta, P Delbini, N Scaramellini, V Ghiandai… - Annals of …, 2024 - Springer
Anemia and hyperferritinemia are frequent findings at diagnosis of Gaucher disease (GD).
Macrophage-independent dyserythropoiesis and abnormal iron metabolism have been …

Physiology of Red Cell Lineage: From Erythroblast Progenitors to Mature Red Blood Cell

S Ducamp, MA Ostuni - International Journal of Molecular Sciences, 2023 - mdpi.com
Red blood cells (RBC) are the most abundant cells in mammals. Their primary function is
transporting and exchanging O2 and CO2 between the circulation and the organs. Every …

In silico biophysics and rheology of blood and red blood cells in Gaucher Disease

Z Chai, G Li, PA Ndour, P Connes, PA Buffet, M Franco… - bioRxiv, 2024 - biorxiv.org
Gaucher Disease (GD) is a rare genetic disorder characterized by a deficiency in the
enzyme glucocerebrosidase, leading to the accumulation of glucosylceramide in various …

Erythrocyte TLR9 is upregulated in metabolic associated fatty liver disease, and is linked to an inflammatory immunometabolic signature.

C Papadopoulos, K Mimidis, I Tentes… - bioRxiv, 2024 - biorxiv.org
Metabolic associated fatty liver disease (MAFLD) consists of lipid accumulation in the liver.
Lipotoxicity, supported by aberrant amino acid metabolism, induces TLR9 upregulation, and …

Investigating ineffective erythropoiesis in sickle cell disease and its impact on the erythroid niche

A Godard - 2023 - theses.hal.science
Sickle cell disease (SCD) is a genetic recessive disorder, characterized by painful episodes
of vaso-occlusion, chronic hemolytic anemia, and progressive organ failure. It is one of the …

Exploring the Interplay between Donor Sex, CD71+ RBCs, Erythrophagocytosis and Hospital-onset Sepsis

W Li - 2024 - era.library.ualberta.ca
Transfusion of red cell concentrates (RCCs) is common for treating anemia in Intensive care
unit (ICU) patients, but it may result in adverse outcomes like sepsis, potentially due to donor …