The pathological alterations that manifest during the early embryonic development due to
inherited and acquired factors trigger various neurodevelopmental disorders (NDDs) …

The nucleolus of mammalian cells contains hundreds of box C/D small nucleolar RNAs
(SNORDs). Through their ability to base pair with ribosomal RNA precursors, most play …

Small nucleolar RNAs (snoRNAs) are short non-protein-coding RNAs with a long-
recognized role in tuning ribosomal and spliceosomal function by guiding ribose methylation …

Prader-Willi syndrome (PWS) is caused by a loss of paternally expressed genes in an
imprinted region of chromosome 15q. Among the canonical PWS phenotypes are …

Genomic editing to correct disease-causing mutations is a promising approach for the
treatment of human diseases. As a simple and programmable nuclease-based genomic …

Reprogramming of somatic cells into induced pluripotent stem cells (iPSCs) and their
differentiation into neural lineages is a revolutionary experimental system for studying …

Human induced Pluripotent Stem Cells (hiPSCs) have the capacity to generate a wide range
of somatic cells, thus representing an ideal tool for regenerative medicine. Patient-derived …

Rare diseases, in totality, affect a significant proportion of the population and represent an
unmet medical need facing the scientific community. However, the treatment of individuals …

Introduction A microdeletion including the SNORD116 gene (SNORD116 MD) has been
shown to drive the Prader-Willi syndrome (PWS) features. PWS is a neurodevelopmental …

Background Parental imprinting is an epigenetic mechanism that leads to monoallelic
expression of a subset of genes depending on their parental origin. Imprinting disorders …