Ontology highlight
ABSTRACT:
SUBMITTER: Teocchi MA
PROVIDER: S-EPMC4578518 | biostudies-literature | 2015 Sep
REPOSITORIES: biostudies-literature
Immunity, inflammation and disease 20150604 3
Mutations in the Bruton agammaglobulinemia tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA). Unfolded or misfolded proteins can trigger stress pathways in the endoplasmic reticulum (ER), known as unfolded protein response (UPR). The aim was to clarify the involvement of UPR in XLA pathophysiology. By reverse transcription-quantitative PCR, we evaluated the expression of BTK and 12 UPR-related genes in eight patients. Moreover, we assessed the BTK protein expressio ...[more]