It is known that an abnormal activation of the mitogen-activated protein kinase (MAPK) pathway is involved in tumor formation and progression, where MEK1 and MEK2 are the key proteins involved in this pathway. At the ongoing ASCO meeting in Chicago, Pasithea Therapeutics Corp. presented data on PAS-004, a macrocyclic MEK inhibitor for the potential treatment of cancer.
Alpha-1 antitrypsin deficiency (AATD) is a recessive genetic disorder caused by single nucleotide variants (SNV) in the SERPINA1 gene encoding for alpha-1 antitrypsin (AAT), with the most common mutation being the E342K mutation (Z allele) that introduces an amino acid change from glutamic acid (E) coding for M-AAT to a lysine (K) coding for Z-AAT.
Several cancer types are treated with epidermal growth factor receptor (EGFR)-targeting agents (EGFR inhibitors), but this treatment is associated with dermal toxicity in up to 90% of cases, where 80% of cases have rash, among other issues. This skin toxicity is mainly driven by elevation of Staphylococcus aureus and the proinflammatory cytokine IL-36γ. Skin keratinocytes’ cutaneous immune defense is impaired by EGFR inhibitors.
Alternative splicing is known to play an important role in tissue development. Scientists at Brigham and Women’s Hospital have looked into the association between a chronic obstructive pulmonary disease (COPD) genetic variant and cell-specific splicing of putative ciliary rootlet coiled-coil protein-like 1 protein (CROCCP2).
Researchers from Shanghai Jiao Tong University presented findings from a study that aimed to assess the metabolic landscape of intestinal fibrosis in Crohn’s disease.
Netherton syndrome (NS) is a rare genetic disease caused by loss of functional lympho-epithelial Kazal-type-related inhibitor (LEKTI, SPINK5). It was hypothesized that small-molecule inhibitors of KLK5 could replace deficient LEKTI in NS.
Acute respiratory distress syndrome (ARDS) is a multifactorial disease, the pathogenesis of which involves environmental exposure and genetic predisposition.
Netherton syndrome (NS) is caused by mutations in the serine protease inhibitor Kazal type 5 gene (SPINK5), which encodes lympho-epithelial Kazal-type-related inhibitor (LEKTI).
It is known that transient receptor potential cation channel subfamily V member 3 (TRPV3) is crucial for the modulation of skin homeostasis by regulation of Ca2+.
Mast/stem cell growth factor receptor KIT is a receptor tyrosine kinase that plays a key role in mast cell differentiation, proliferation, survival and activation.
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