The rough endoplasmic reticulum (ER) of nucleated human cells has crucial functions in
protein biogenesis, calcium (Ca2+) homeostasis, and signal transduction. Among the …

Background Goltz syndrome (GS) is a X-linked disorder defined by defects of mesodermal-
and ectodermal-derived structures and caused by PORCN mutations. Features include …

The RASopathies are a group of genetic rare diseases caused by mutations affecting genes
involved in the RAS/MAPK (RAS–mitogen activated protein kinase) pathway. Among them …

Giant axonal neuropathy (GAN) is a progressive neurodegenerative disease affecting the
peripheral and central nervous system and is caused by bi-allelic variants in the GAN gene …

Inositol polyphosphate 5-phosphatase K (INPP5K), also known as SKIP (skeletal muscle
and kidney-enriched inositol phosphatase), is a cytoplasmic enzyme with 5-phosphatase …

Biallelic pathogenic variants in INPP5K have been associated with a rare congenital
muscular dystrophy that presents with muscle weakness, short stature, intellectual disability …

Inositol polyphosphate 5-phosphatase K (INPP5K) also known as SKIP (skeletal muscle and
kidney enriched inositol phosphatase) is a cytoplasmic enzyme with 5-phosphatase activity …

One hurdle in the development of zebrafish models of human disease is the presence of
multiple zebrafish orthologs resulting from whole genome duplication in teleosts. Mutations …

Abstract Neurological diseases affect 3–5% of children and, apart from cardiovascular
diseases and cancer, represent the most prominent cause of morbidity and mortality in …