34 results match your criteria: "National Institute of Molecular Genetics INGM[Affiliation]"

Article Synopsis
  • - Rett syndrome is an incurable disorder caused by mutations in the MeCP2 gene, which can lead to neurological issues when overexpressed.
  • - Researchers developed a gene therapy using a specific viral vector (AAV-PHP.eB) that delivers a modified transgene to maintain proper levels of the MeCP2 protein, which improved symptoms in mice.
  • - While the therapy worked well for female mutant and wild-type mice, male mutant mice showed a strong immune response that required immunosuppression to address.
View Article and Find Full Text PDF
Article Synopsis
  • Allele-specific silencing by RNA interference (ASP-siRNA) is a potential treatment that targets specific mutant genes without significantly affecting the healthy versions.
  • This method could be especially useful for conditions caused by gene duplications, like autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) caused by lamin B1 (LMNB1) duplication.
  • In experiments, effective ASP-siRNAs were identified, which improved gene and protein levels and alleviated disease symptoms in ADLD patient-derived cells and relevant cellular models, suggesting ASP-siRNA as a viable therapeutic approach for this and similar genetic disorders.
View Article and Find Full Text PDF

Phosphatidylinositol (PI)-related signaling plays a pivotal role in many cellular aspects, including survival, cell proliferation, differentiation, DNA damage, and trafficking. PI is the core of a network of proteins represented by kinases, phosphatases, and lipases which are able to add, remove or hydrolyze PI, leading to different phosphoinositide products. Among the seven known phosphoinositides, phosphatidylinositol 5 phosphate (PI5P) was the last to be discovered.

View Article and Find Full Text PDF

Magnetically driven drug delivery systems improving targeted immunotherapy for colon-rectal cancer.

J Control Release

June 2018

Institute of Clinical Physiology, Experimental Oncology Unit, National Research Council (CNR) of Italy, Siena, Italy. Electronic address:

Colorectal cancer (CRC) is one of the major causes of cancer-associated mortality worldwide. The currently approved therapeutic agents show a rather limited efficacy. We have recently demonstrated that the atypical cadherin FAT1 is a specific marker of CRC and that the FAT1-specific monoclonal antibody mAb198.

View Article and Find Full Text PDF

Background: Ribosomopathies constitute a class of inherited disorders characterized by defects in ribosome biogenesis and function. Classically, bone marrow (BM) failure is a clinical symptom shared between these syndromes, including Shwachman-Bodian-Diamond syndrome (SBDS). Eukaryotic translation initiation factor 6 (eIF6) is a critical translation factor that rescues the quasilethal effect of the loss of the SBDS protein.

View Article and Find Full Text PDF

Photodynamic antibacterial and antibiofilm activity of RLP068/Cl against Staphylococcus aureus and Pseudomonas aeruginosa forming biofilms on prosthetic material.

Int J Antimicrob Agents

July 2014

Laboratory of Clinical Chemistry and Microbiology, IRCCS Galeazzi Orthopaedic Institute, Milan, Italy; Laboratory of Technical Sciences for Laboratory Medicine, Department of Biomedical Science for Health, University of Milan, Milan, Italy. Electronic address:

Prosthetic joint infections (PJIs) are becoming a growing public health concern in developed countries as more people undergo arthroplasty for bone fixation or joint replacement. Because a wide range of bacterial strains responsible for PJIs can produce biofilms on prosthetic implants and because the biofilm structure confers elevated bacterial resistance to antibiotic therapy, new drugs and therapies are needed to improve the clinical outcome of treatment of PJIs. Antimicrobial photodynamic therapy (APDT), a non-antibiotic broad-spectrum antimicrobial treatment, is also active against multidrug-resistant micro-organisms such as meticillin-resistant Staphylococcus aureus (MRSA) and Pseudomonas aeruginosa.

View Article and Find Full Text PDF

Primary biliary cirrhosis (PBC) is an uncommon autoimmune disease with a homogeneous clinical phenotype that reflects incomplete disease concordance in monozygotic (MZ) twins. We have taken advantage of a unique collection consisting of genomic DNA and mRNA from peripheral blood cells of female MZ twins (n = 3 sets) and sisters of similar age (n = 8 pairs) discordant for disease. We performed a genome-wide study to investigate differences in (i) DNA methylation (using a custom tiled four-plex array containing tiled 50-mers 19,084 randomly chosen methylation sites), (ii) copy number variation (CNV) (with a chip including markers derived from the 1000 Genomes Project, all three HapMap phases, and recently published studies), and/or (iii) gene expression (by whole-genome expression arrays).

View Article and Find Full Text PDF

Mitochondria are semi-autonomously reproductive organelles within eukaryotic cells carrying their own genetic material, called the mitochondrial genome (mtDNA). Until some years ago, mtDNA had primarily been used as a tool in population genetics. As scientists began associating mtDNA mutations with dozens of mysterious disorders, as well as the aging process and a variety of chronic degenerative diseases, it became increasingly evident that the information contained in this genome had substantial potential applications to improve human health.

View Article and Find Full Text PDF