Results 71 to 80 of about 955 (143)
Birth Defects Research, Volume 116, Issue 1, January 2024.Abstract Background Congenital hydrocephalus (CH) is a life‐threatening neurological condition that results from an imbalance in production, flow, or absorption of cerebrospinal fluid. Predicted outcomes from in utero diagnosis are frequently unclear. Moreover, conventional treatments consisting primarily of antenatal and postnatal surgeries are often ...
Caroline Aragón +5 more
wiley +1 more source
Biochemical and Biophysical Research Communications, 2019 Cystic fibrosis transmembrane regulator (CFTR) is a cyclic AMP-dependent Cl- channel, and its dysfunction, due to CFTR gene mutations, causes the lethal inherited disorder cystic fibrosis (CF). To date, widespread dysregulation of certain coding genes in CF airway epithelial cells is well studied and considered as the driver of pulmonary abnormality ...
Shunsuke Kamei +14 more
openaire +2 more sources
Gene therapies for mucopolysaccharidoses
Journal of Inherited Metabolic Disease, Volume 47, Issue 1, Page 135-144, January 2024.Abstract Current specific treatments for mucopolysaccharidoses (MPSs) include enzyme replacement therapy (ERT) and hematopoietic stem cell transplantation (HSCT). Both treatments are hampered by several limitations, including lack of efficacy on brain and skeletal manifestations, need for lifelong injections, and high costs.
Alessandro Rossi +1 more
wiley +1 more source
, 2014 Sulfatases are key enzymatic regulators of sulfate homeostasis with several biological functions including degradation of glycosaminoglycans (GAGs) and other macromolecules in lysosomes.
Eskelinen EL +5 more
core +2 more sources
The Indian journal of medical research, 2015 Multiple suphphatase deficiency (MSD) is an autosomal recessive disorder affecting the post translational activation of all enzymes of the sulphatase family. To date, approximately 30 different mutations have been identified in the causative gene, sulfatase modifying factor 1 (SUMF1).
Udhaya H, Kotecha +5 more
openaire +1 more source
Uso de vectores derivados de virus adenoasociados para el tratamiento de la enfermedad de Morquio A
Revista Universitas Medica, 2009 En el desarrollo de una estrategia de terapia génica para la mucopolisacaridosis IV A (enfermedad de Morquio A), en el presente trabajo se evaluó la capacidad de un vector adenoasociado (AAV) para expresar el gen de la enzima sulfatasa N ...
CARLOS JAVIER ALMÉCIGA-DÍAZ +5 more
doaj
PLoS ONE, 2010 BackgroundGenetic alterations in cellular signaling networks are a hallmark of cancer, however, effective methods to discover them are lacking. A novel form of abnormality called acquired uniparental disomy (aUPD) was recently found to pinpoint the ...
Musaffe Tuna +4 more
doaj +1 more source
, 2010 Self-renewal and differentiation of hematopoietic stem cells (HSCs) are balanced by the concerted activities of the fibroblast growth factor (FGF), Wnt, and Notch pathways, which are tuned by enzyme-mediated remodeling of heparan sulfate proteoglycans ...
Visigalli I. +9 more
core +1 more source
Life Science AllianceThe proteostatic factor ERp44 controls the intracellular distribution of TMX5/TXNDC15 to determine TMX5’s clients’ engagement. The ER is the organelle of nucleated cells that produces lipids, sugars, and proteins.
Tatiana Soldà +4 more
doaj +1 more source