2 documents found, page 1 of 1
A Novel Genetic Variant in MBD5 Associated with Severe Epilepsy and Intellectua...
Martins, M; Oliveira, AR; Martins, S; Vieira, JP; Perdigão, P; Fernandes, AR; de Almeida, LP; Palma, PJ; Sequeira, DB; Santos, JM; Duque, F; Oliveira, GDisruptions in the MBD5 gene have been linked with an array of clinical features such as global developmental delay, intellectual disability, autistic-like symptoms, and seizures, through unclear mechanisms. MBD5 haploinsufficiency has been associated with the disruption of primary cilium-related processes during early cortical development, and this has been reported in many neurodevelopmental disorders. In thi...
MicroRNA deregulation and chemotaxis and phagocytosis impairment in Alzheimer's...
Guedes, JR; Santana, I; Cunha, C; Duro, D; Almeida, MR; Cardoso, AM; Pedroso de Lima, MC; Cardoso, ALINTRODUCTION: Mononuclear phagocytes play a critical role during Alzheimer's disease (AD) pathogenesis due to their contribution to innate immune responses and amyloid beta (Aβ) clearance mechanisms. METHODS: Blood-derived monocytes (BDMs) and monocyte-derived macrophages (MDMs) were isolated from blood of AD, mild cognitive impairment (MCI) patients, and age-matched healthy controls for molecular and phenotypi...