Listando por materia "HHCS"

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Hereditary hyperferritinemia cataract syndrome: ferritin L gene and physiopathology behind the disease - report of new cases

Celma Nos, Ferran; Hernández, Gonzalo; León Llorente, Consuelo; Hernandez-Rodriguez, Ines; Navarro-Almenzar, Begoña; Fuster, José Javier; Bermúdez Cortés, Mar; Pérez-Montero, Santiago; Tornador, Cristian; Sanchez-Fernandez, Mayka (International Journal of Molecular Sciences, 2021)

Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare disease characterized by high serum ferritin levels, congenital bilateral cataracts, and the absence of tissue iron overload. This disorder ...
Iron Regulatory Protein/Iron Responsive Element (IRP/IRE) system: associated diseases and new target mRNAs (PPP1R1B)

Celma Nos, Ferran (Fecha de defensa: 2022-09-23)

Iron is a biometal involved in many physiological processes essential for life. Regulation of both systemic and cellular iron homeostasis is crucial for health. The IRP/IRE post-transcriptional regulatory ...