2 documents found, page 1 of 1
Common mechanistic pathways in rare congenital syndromes with primary microcephaly
Jorge, Xavier; Milagre, Ines; Ferreira, Anita; Calado, Sofia; Oliveira, Raquel; Carvalhal, SaraPrimary microcephaly is an often-seen phenotype in several rare congenital syndromes. It is characterised by a smaller brain size at birth compared to the norm. The causes of this malformation are not fully understood, but genetic testing suggests a connection with defective genes involved in mitotic regulation and proteins related to DNA repair and replication pathways. Cohesinopathies represent a group of rar...
Glutathione S-transferase pi regulates UV-induced JNK signaling in SH-SY5Y neur...
Castro-Caldas, Margarida; Milagre, Ines; Rodrigues, Elsa; Gama, Maria JoaoActivation of c-Jun N-terminal kinase (JNK) signaling pathway is a key event in apoptosis. The cellular mechanisms underlying the control of JNK catalytic activity before and immediately after stress in neuronal cells are still not completely understood. Under resting conditions the basal activity of JNK is low, since JNK is kept inactive by the presence of one or more endogenous repressors, including glutathio...