Vincenzo Nigro

Jan 10, 2025 | cell.com | Ivan K. Chinn |Jonathan May |Anu Goenka |Kate Chandler |Jennifer E. Posey |Alexandra Afenjar | +88 more

Keywords BCL11B C2H2-type zinc finger protein recognition code genotype-phenotype correlation type 2 innate lymphoid cells Introduction Proteins containing a Cys2-His2 zinc-finger domain (C2H2-ZnF) constitute the largest class of human transcription factors.1 They act by either repressing or activating the expression of target genes through binding a specific DNA sequence by their tandem and modular C2H2-ZnFs. Each C2H2-ZnF shares a consensus sequence that folds in the presence of zinc (Zn2+)...

Jan 10, 2025 | cell.com | Ivan K. Chinn |Jonathan May |Anu Goenka |Kate Chandler |Jennifer E. Posey |Alexandra Afenjar | +88 more

Keywords BCL11B C2H2-type zinc finger protein recognition code genotype-phenotype correlation type 2 innate lymphoid cells Introduction Proteins containing a Cys2-His2 zinc-finger domain (C2H2-ZnF) constitute the largest class of human transcription factors.1 They act by either repressing or activating the expression of target genes through binding a specific DNA sequence by their tandem and modular C2H2-ZnFs. Each C2H2-ZnF shares a consensus sequence that folds in the presence of zinc (Zn2+)...

Apr 6, 2023 | mdpi.com | Corrado Angelini |Alicia Rodriguez |Vincenzo Nigro |Chiara Ceolin

1. IntroductionMyofibrillar myopathies (MFM) are a rather heterogeneous group of neuromuscular disorders caused by mutations of various genes that cause common myopathological features. First of all is the damage of Z-disks followed by myofibrillar disruption and accumulation of multiple proteins in cytoplasmic bodies [1]. Each gene originates from a mutated protein, which is either an integral part of the Z-disk or might be closely associated with it.