Publications by authors named "S Zerelli"
The carnitine palmitoyl transferase (CPT) system is a multiprotein complex with catalytic activity localized within a core represented by CPT1 and CPT2 in the outer and inner membrane of the mitochondria, respectively. Two proteins, the acyl-CoA synthase and a translocase also form part of this system. This system is crucial for the mitochondrial beta-oxidation of long-chain fatty acids.
View Article and Find Full Text PDFArticle Synopsis
- - Partial trisomy 9p is a common genetic anomaly that usually leads to recognizable physical features and varying degrees of mental disability, with previous studies indicating a key region affecting these traits at 9p22.
- - A new case involving an 8-year-old boy with partial trisomy 9p13.3→9pter exhibited typical physical features but normal mental development, suggesting variability in symptoms.
- - Genetic tests revealed the boy's karyotype and significant chromosomal duplications, underscoring that not all cases of partial trisomy 9p result in intellectual disabilities, highlighting the complexity of this genetic condition.