Ida Annunziata

Department of Genetics, St Jude Children's Research Hospital

Affiliated withSt Jude Children's Research Hospital St. Jude Children's Research Hospital

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JoVE Journal Publications

ArticleTotal : 2	Year
Publication title Cited by 19	2013
Publication title Cited by 7	2020

Other Publications

Article	Year
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. American journal of human genetics\| PubMed ID: 12189593	2002
Mapping of MRX81 in Xp11.2-Xq12 suggests the presence of a new gene involved in nonspecific X-linked mental retardation. American journal of medical genetics. Part A\| PubMed ID: 12673650	2003
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases. Cell\| PubMed ID: 12757706	2003
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency. Human mutation\| PubMed ID: 15146462	2004
Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2. EMBO reports\| PubMed ID: 15962010	2005
Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease. Molecular therapy : the journal of the American Society of Gene Therapy\| PubMed ID: 17213836	2007
Systemic inflammation and neurodegeneration in a mouse model of multiple sulfatase deficiency. Proceedings of the National Academy of Sciences of the United States of America\| PubMed ID: 17360554	2007
Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum. The EMBO journal\| PubMed ID: 17446859	2007
Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD. European journal of medical genetics\| PubMed ID: 17591464	2007
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene. Human mutation\| PubMed ID: 17657823	2007
GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis. Molecular cell\| PubMed ID: 19917257	2009
Non-erythropoietic erythropoietin derivatives protect from light-induced and genetic photoreceptor degeneration. Human molecular genetics\| PubMed ID: 21421996	2011
Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosis. Nature communications\| PubMed ID: 24225533	2013
Lysosomal multienzyme complex: pros and cons of working together. Cellular and molecular life sciences : CMLS\| PubMed ID: 24337808	2014
Interorganellar membrane microdomains: dynamic platforms in the control of calcium signaling and apoptosis. Cells\| PubMed ID: 24709798	2013
Loss of Cellular Sialidases Does Not Affect the Sialylation Status of the Prion Protein but Increases the Amounts of Its Proteolytic Fragment C1. PloS one\| PubMed ID: 26569607	2015
Regulated lysosomal exocytosis mediates cancer progression. Science advances\| PubMed ID: 26824057	2015
Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis. Expert opinion on orphan drugs\| PubMed ID: 26949572	2015
Galactosialidosis: historic aspects and overview of investigated and emerging treatment options. Expert opinion on orphan drugs\| PubMed ID: 28603679	2017
Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases. Cell death & disease\| PubMed ID: 29491402	2018
Excessive exosome release is the pathogenic pathway linking a lysosomal deficiency to generalized fibrosis. Science advances\| PubMed ID: 31328155	2019
MYC competes with MiT/TFE in regulating lysosomal biogenesis and autophagy through an epigenetic rheostat. Nature communications\| PubMed ID: 31399583	2019
Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I. Journal of clinical medicine\| PubMed ID: 32143456	2020
Transcription factor competition regulates lysosomal biogenesis and autophagy. Molecular & cellular oncology\| PubMed ID: 32158913	2020