Department of Genetics
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Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase.
American journal of human genetics Oct, 2002 | Pubmed ID: 12189593
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 Apr, 2003 | Pubmed ID: 12673650
The multiple sulfatase deficiency gene encodes an essential and limiting factor for the activity of sulfatases.
Cell May, 2003 | Pubmed ID: 12757706
Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.
Human mutation Jun, 2004 | Pubmed ID: 15146462
Sulphatase activities are regulated by the interaction of sulphatase-modifying factor 1 with SUMF2.
EMBO reports Jul, 2005 | Pubmed ID: 15962010
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 Mar, 2007 | Pubmed ID: 17213836
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 Mar, 2007 | Pubmed ID: 17360554
Sulfatase modifying factor 1 trafficking through the cells: from endoplasmic reticulum to the endoplasmic reticulum.
The EMBO journal May, 2007 | Pubmed ID: 17446859
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 Jul-Aug, 2007 | Pubmed ID: 17591464
Multiple sulfatase deficiency is due to hypomorphic mutations of the SUMF1 gene.
Human mutation Sep, 2007 | Pubmed ID: 17657823
GM1-ganglioside accumulation at the mitochondria-associated ER membranes links ER stress to Ca(2+)-dependent mitochondrial apoptosis.
Molecular cell Nov, 2009 | Pubmed ID: 19917257
Non-erythropoietic erythropoietin derivatives protect from light-induced and genetic photoreceptor degeneration.
Human molecular genetics Jun, 2011 | Pubmed ID: 21421996
Lysosomal NEU1 deficiency affects amyloid precursor protein levels and amyloid-β secretion via deregulated lysosomal exocytosis.
Nature communications , 2013 | Pubmed ID: 24225533
Lysosomal multienzyme complex: pros and cons of working together.
Cellular and molecular life sciences : CMLS Jun, 2014 | Pubmed ID: 24337808
Interorganellar membrane microdomains: dynamic platforms in the control of calcium signaling and apoptosis.
Cells Aug, 2013 | Pubmed ID: 24709798
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 , 2015 | Pubmed ID: 26569607
Regulated lysosomal exocytosis mediates cancer progression.
Science advances Dec, 2015 | Pubmed ID: 26824057
Pathogenesis, Emerging therapeutic targets and Treatment in Sialidosis.
Expert opinion on orphan drugs , 2015 | Pubmed ID: 26949572
Galactosialidosis: historic aspects and overview of investigated and emerging treatment options.
Expert opinion on orphan drugs , 2017 | Pubmed ID: 28603679
Mitochondria-associated ER membranes (MAMs) and lysosomal storage diseases.
Cell death & disease 02, 2018 | Pubmed ID: 29491402
Excessive exosome release is the pathogenic pathway linking a lysosomal deficiency to generalized fibrosis.
Science advances 07, 2019 | Pubmed ID: 31328155
MYC competes with MiT/TFE in regulating lysosomal biogenesis and autophagy through an epigenetic rheostat.
Nature communications 08, 2019 | Pubmed ID: 31399583
Conventional and Unconventional Therapeutic Strategies for Sialidosis Type I.
Journal of clinical medicine 03, 2020 | Pubmed ID: 32143456
Transcription factor competition regulates lysosomal biogenesis and autophagy.
Molecular & cellular oncology , 2020 | Pubmed ID: 32158913
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