3 documents found, page 1 of 1
Molecular profile and peripheral markers of neurodegeneration in patients with ...
Hammerschmidt, Tatiane Grazieli; Encarnação, Marisa; Lamberty Faverzani, Jéssica; de Fátima Lopes, Franciele; Oliveira, Fabiano Poswar deNiemann-Pick type C1 (NPC1) is a fatal inherited disease, caused by pathogenic variants in NPC1 gene, which leads to intracellular accumulation of non-esterified cholesterol and glycosphingolipids. This accumulation leads to a wide range of clinical manifestations, including neurological and cognitive impairment as well as psychiatric disorders. The pathophysiology of cerebral damage involves loss of Purkinje c...
Estudo dos mecanismos inflamatórios e de dano oxidativo em pacientes portadores...
Hammerschmidt, Tatiane GrazieliNiemann-Pick tipo C (NP-C) é uma doença lisossômica de depósito, causada por disfunção nas proteínas NPC1 ou NPC2, responsáveis pelo tráfego de lipídeos intracelular. Alterações genéticas em uma dessas proteínas resulta em acúmulo de colesterol não-esterificado e de glicoesfingolipídeos dentro do compartimento endossomal/lisossomal das células de pacientes afetados. Alguns estudos na literatura vêm relacionando...
Molecular and biochemical biomarkers for diagnosis and therapy monitorization o...
Hammerschmidt, Tatiane GrazieliNiemann-Pick type C (NP-C), one of 50 inherited lysosomal storage disorders caused by NPC protein impairment that leads to unesterified cholesterol accumulation in late endosomal/lysosomal compartments. The clinical manifestations of NP-C includes hepatosplenomegaly, neurological and psychiatric symptoms. Current diagnosis for NP-C is based on observation of the accumulated cholesterol in fibroblasts of affecte...