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Perforin binds to membranes and undergoes substantial structural re-arrangement to form pores that enable diffusion of granzyme into the target cell [Review].
findings show that N-linked glycosylation of the perforin C-terminus at Asn549 within the endoplasmic reticulum inhibits oligomerisation of perforin monomers and protects the host cell from premature pore formation; studies reveal a post-translational regulatory mechanism essential for maintaining perforin in an inactive state until its secretion from the inhibitory acidic environment of the secretory granule
Study focuses on the role of perforin in both protecting and promoting human disease. It concludes with a novel hypothesis that diversity observed in the PRF1 gene may be an example of selective advantage that protects an individual from perforin-mediated pathology, such as blood-brain barrier disruption. [review]
Our studies suggest that although moderate levels of expression can result in partial amelioration of the hemophagocytic lymphohistiocytosis (HLH)phenotype, high levels of perforin expression per cell are required for complete correction of HLH.
Findings support an association between childhood DNA methylation (zeige HELLS Proteine) patterns in PRF1 and a record of severe respiratory syncytial virus bronchiolitis in infancy.
our data provide the first evidence of a strict link between the absence of CD28 (zeige CD28 Proteine) and the expression of perforin, which is likewise enhanced by the expression of NKG2D (zeige KLRK1 Proteine), within selected CD4 (zeige CD4 Proteine)(+) T cells from cervical cancer patients.
A girl with neurological manifestations of familial hemophagocytic lymphohistiocytosis 2 had reduced perforin 1 expression and was found to be homozygous for a mutation in PRF1 at codon 637 in exon 3 (c.673C>T p.Arg225Trp). Her non-consanguineous parents were both heterozygous carriers of this mutation.
Mutation in PRF1 gene is associated with hemophagocytic lymphohistiocytosis.
Increased TIM3 (zeige HAVCR2 Proteine)+CD8 (zeige CD8A Proteine)+T cells with lower perforin and granzyme B expression and higher CD95 (zeige FAS Proteine) expression in MDS (zeige PAFAH1B1 Proteine) patients were observed.
ITP (zeige ITPA Proteine) patients displayed an increased frequency of rare missense variations of the PRF1 gene
levetiracetam can still protect neurons with perforin knockout mice.
These studies indicate that CD8 (zeige CD8A Proteine)+ T cells against a single antigen can restrict Y. pseudotuberculosis colonization in a perforin-dependent manner, but ultimately are insufficient in their ability to provide sterilizing immunity and protect against death.
Furthermore, perforin production specifically by CD8 (zeige CD8A Proteine) T cells was required to cause fatal edema during experimental cerebral malaria.
Our study suggests that perforin plays a role in dopaminergic neuron loss in PD.
IL-18 (zeige IL18 Proteine)-elicited NK cell perforin responses seem to be critical for coordinating mucosal inflammation during early infection
study shows that perforin is essential to facilitate beta cell destruction in mouse models of type 1 diabetes
Released granzyme B induces DNA fragmentation in intraepithelial lymphocytes independently of Perforin
serglycin (zeige SRGN Proteine) plays a critical role in the maturation of dense-core cytotoxic granules in cytotoxic lymphocytes and the trafficking and storage of perforin and granzyme B, whereas granzyme A (zeige GZMA Proteine) is unaffected
This suggests that LPS alters UNK cell migration and activates cytotoxic granule release.
it is proposed that Ca(2 (zeige CA2 Proteine)+) binding at the weakest affinity site triggers changes in the perforin C2 domain that facilitate its interaction with lipid membranes
It is a cytotoxic genes in the endometrium and hightly expressed in the peri (zeige PLIN1 Proteine)-implantation endometrium.
The protein encoded by this gene has structural and functional similarities to complement component 9 (C9). Like C9, this protein creates transmembrane tubules and is capable of lysing non-specifically a variety of target cells. This protein is one of the main cytolytic proteins of cytolytic granules, and it is known to be a key effector molecule for T-cell- and natural killer-cell-mediated cytolysis. Defects in this gene cause familial hemophagocytic lymphohistiocytosis type 2 (HPLH2), a rare and lethal autosomal recessive disorder of early childhood. Alternative splicing results in multiple transcript variants encoding the same protein.
, lymphocyte pore forming protein
, lymphocyte pore-forming protein
, perforin 1 (pore forming protein)
, pore forming protein
, perforin 1 (pore forming protein) L homeolog
, perforin 1 L homeolog