Ida Annunziata

Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.

Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation.

The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.

Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2.

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.

Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency.

Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum.

Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD.

Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.

GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis.

Non-erythropoietic erythropoietin derivatives protect from light-induced and genetic photoreceptor degeneration.

Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosis.

Lysosomal multienzyme complex: pros and cons of working together.

Interorganellar membrane microdomains: dynamic platforms in the control of calcium signaling and apoptosis.

Loss of Cellular Sialidases Does Not Affect the Sialylation Status of the Prion Protein but Increases the Amounts of Its Proteolytic Fragment C1.

Regulated lysosomal exocytosis mediates cancer progression.

Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.

Galactosialidosis: historic aspects and overview of investigated and emerging treatment options.

Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases.

Excessive exosome release is the pathogenic pathway linking a lysosomal deficiency to generalized fibrosis.

MYC competes with MiT/TFE in regulating lysosomal biogenesis and autophagy through an epigenetic rheostat.

Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.

Transcription factor competition regulates lysosomal biogenesis and autophagy.