TFEB, a key regulator of lysosomal biogenesis and autophagy, is induced not only by
nutritional deficiency but also by organelle stress. Here, we find that Tfeb and its …

Gaucher disease (GD) is a genetic disease with mutations in the GBA gene that encodes
glucocerebrosidase causing complications such as anaemia and bone disease. GD is …

Gaucher disease (GD) is an inherited deficiency of glucocerebrosidase leading to
accumulation of glucosylceramide in tissues such as the spleen, liver, and bone marrow …

Background Parkinson's disease (PD) is among the most frequently-occurring
neurodegenerative diseases in humans. Although mitochondrial dysfunction is suggested to …

Anemia and hyperferritinemia are frequent findings at diagnosis of Gaucher disease (GD).
Macrophage-independent dyserythropoiesis and abnormal iron metabolism have been …

Effect of velaglucerase alfa enzyme replacement therapy on red blood cell properties in Gaucher
disease Effect of velaglucerase alfa enzyme replacement therapy on red blood cell properties in …

Gaucher disease (GD) is a recessively inherited lysosomal storage disorder in which
sphingolipids accumulates in the macrophages that transform into Gaucher cells. A growing …

Первичные митохондриальные заболевания (ПМЗ) относятся к классу наследственных
болезней обмена веществ и обусловлены нарушением структуры и функции системы …

El metabolismo de los esfingolípidos está regulado por varias enzimas. Un déficit en la
actividad de una enzima induce una acumulación de esfingolípidos, lo que define las …

Sickle cell disease (SCD) is caused by a single point mutation in the β-globin gene
generating sickle hemoglobin (HbS). Hypoxia drives HbS polymerization that is responsible …