Results 41 to 50 of about 1,666 (186)
Les sphingolipides : vecteurs d’agents pathogènes et cause de maladies génétiques [PDF]
, 2006 Les sphingolipides (SPL) sont des molécules ubiquitaires indispensables au maintien et au développement des organismes vivants. Ils ne sont pas répartis uniformément le long de la membrane mais regroupés sous forme de microdomaines lipidiques appelés ...
Fasano, Caroline +3 more
core +1 more source
Bis(monoacylglycero)phosphate: a secondary storage lipid in the gangliosidoses
Journal of Lipid Research, 2015 Bis(monoacylglycero)phosphate (BMP) is a negatively charged glycerophospholipid with an unusual sn-1;sn-1′ structural configuration. BMP is primarily enriched in endosomal/lysosomal membranes.
Zeynep Akgoc +5 more
doaj +1 more source
Efficacy of a Bicistronic Vector for Correction of Sandhoff Disease in a Mouse Model
Molecular Therapy: Methods & Clinical Development, 2019 GM2 gangliosidoses are a family of severe neurodegenerative disorders resulting from a deficiency in the β-hexosaminidase A enzyme. These disorders include Tay-Sachs disease and Sandhoff disease, caused by mutations in the HEXA gene and HEXB gene ...
Evan Woodley +6 more
doaj +1 more source
Lysosphingolipid Quantitation in Plasma and Dried-Blood Spots Using Targeted High-Resolution Mass Spectrometry. [PDF]
J Clin Lab AnalSphingolipidoses is a group of rare inherited lysosomal diseases that require an early and accurate diagnosis for effective treatment and patient management. A high‐resolution mass spectrometry method coupled with liquid chromatography has beendeveloped to analyze lysosphingolipids in plasma and dried blood spots.
Ducatez F +17 more
europepmc +2 more sources
The mechanism of glycosphingolipid degradation revealed by a GALC-SapA complex structure. [PDF]
, 2018 Sphingolipids are essential components of cellular membranes and defects in their synthesis or degradation cause severe human diseases. The efficient degradation of sphingolipids in the lysosome requires lipid-binding saposin proteins and hydrolytic ...
Cook, Georgia M +5 more
core +2 more sources
Sphingolipidoses and Retinal Involvement: A Comprehensive Review
Applied SciencesSphingolipidoses are a class of inherited lysosomal storage diseases, characterized by enzymatic deficiencies that impair sphingolipid degradation. This enzymatic malfunction results in the pathological accumulation of sphingolipids within lysosomes ...
Chiara Carrozzi +6 more
doaj +1 more source
Frontiers in Molecular Neuroscience, 2021 In recent years, gene therapy has been raising hopes toward viable treatment strategies for rare genetic diseases for which there has been almost exclusively supportive treatment. We here review this progress at the pre-clinical and clinical trial levels
Thomas Leth Jensen +2 more
doaj +1 more source
Trials, 2021 Background The lack of approved treatments for the majority of rare diseases is reflective of the unique challenges of orphan drug development. Novel methodologies, including new functionally relevant endpoints, are needed to render the development ...
T. Fields +22 more
doaj +1 more source
A caveolin dominant negative mutant associates with lipid bodies and induces intracellular cholesterol imbalance [PDF]
, 2001 Recent studies have indicated a role for caveolin in regulating cholesterol-dependent signaling events. In the present study we have analyzed the role of caveolins in intracellular cholesterol cycling using a dominant negative caveolin mutant. The mutant
Pol, Albert +5 more
core +2 more sources
GM1 and GM2 gangliosides: recent developments
Biomolecular Concepts, 2014 GM1 and GM2 gangliosides are important components of the cell membrane and play an integral role in cell signaling and metabolism. In this conceptual overview, we discuss recent developments in our understanding of the basic biological functions of GM1 ...
Bisel Blaine +2 more
doaj +1 more source