Results 61 to 70 of about 2,912 (144)

Lysosphingolipid Quantitation in Plasma and Dried‐Blood Spots Using Targeted High‐Resolution Mass Spectrometry

Journal of Clinical Laboratory Analysis, Volume 39, Issue 1, January 2025.
Sphingolipidoses 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.
Franklin Ducatez, Wladimir Mauhin, Jules Ottaviani, Thomas Plichet, Carine Pilon, Olivier Lidove, Fréderic Barbey, Régine Perrichot, Sabrina Vergnaud, Marc G. Berger, Juliette Berger, Nadia Belmatoug, Yann Nadjar, Foudil Lamari, Esther Noel, Stéphane Marret, Soumeya Bekri, Abdellah Tebani   +17 more
wiley   +1 more source

“IDS crossing of the Blood-Brain Barrier corrects CNS defects in MPSII mice” [PDF]

, 2010
IDS Crossing of the Blood-Brain Barrier Corrects CNS Defects in MPSII Mice Mucopolysaccharidosis type II (MPSII), or Hunter syndrome, arises from a deficiency in iduronate 2-sulfatase (IDS), and it is characterized by progressive somatic and ...
Polito, Vinicia Assunta
core   +1 more source

Endocannabinoid receptor 2 is a potential biomarker and therapeutic target for the lysosomal storage disorders

Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.
Abstract Herein, we studied the expression of endocannabinoid receptor 2 (CB2R), a known inflammation mediator, in several lysosomal storage disorder (LSD) animal models and evaluated it as a potential biomarker and therapeutic target for these diseases.
Calogera M. Simonaro, Makiko Yasuda, Edward H. Schuchman   +2 more
wiley   +1 more source

Quantification of mRNAs encoding proteins of the glycosphingolipid catabolism in mouse models of GM2 gangliosidoses and sphingolipid activator protein precursor (prosaposin) deficiency [PDF]

, 2000
We have investigated the mRNA amounts of six lysosomal proteins (β-hexosaminidase α- and β-subunit, sphingolipid activator protein precursor, GM2 activator protein, lysosomal sialidase, β-glucocerebrosidase) involved in the degradation of ...
Sandhoff, Konrad, Astrid Potratz, Proia, Richard L., Konrad Sandhoff, Kunihiko Suzuki, Bierfreund, Uwe, Suzuki, Kunihiko, Uwe Bierfreund, Potratz, Astrid, Hüttler, Silke, Silke Hüttler, Richard L. Proia   +11 more
core   +1 more source

Quantitative brain morphometry identifies cerebellar, cortical, and subcortical gray and white matter atrophy in late‐onset Tay‐Sachs disease

Journal of Inherited Metabolic Disease, Volume 47, Issue 2, Page 327-339, March 2024.
Abstract Cerebellar atrophy is a characteristic sign of late‐onset Tay‐Sachs disease (LOTS). Other structural neuroimaging abnormalities are inconsistently reported. Our study aimed to perform a detailed whole‐brain analysis and quantitatively characterize morphometric changes in LOTS patients.
Jitka Májovská, Igor Nestrašil, Alia Ahmed, Monica T. Bondy, Jiří Klempíř, Helena Jahnová, Susanne A. Schneider, Dana Horáková, Jan Krásenský, Pavel Ješina, Manuela Vaneckova, David R. Nascene, Chester B. Whitley, Jeanine R. Jarnes, Martin Magner, Petr Dušek   +15 more
wiley   +1 more source

Evidence of Lysosomal β-Hexosaminidase Enzymatic Activity Associated with Extracellular Vesicles: Potential Applications for the Correction of Sandhoff Disease

Journal of Functional Biomaterials
Extracellular vesicles (EVs) can be isolated from biological fluids and cell culture medium. Their nanometric dimension, relative stability, and biocompatibility have raised considerable interest for their therapeutic use as delivery vehicles of ...
Eleonora Calzoni, Giada Cerrotti, Krizia Sagini, Federica Delo, Sandra Buratta, Roberto Maria Pellegrino, Husam B. R. Alabed, Federica Fratini, Carla Emiliani, Lorena Urbanelli   +9 more
doaj   +1 more source

Clinical and imaging predictors of late‐onset GM2 gangliosidosis: A scoping review

Annals of Clinical and Translational Neurology, Volume 11, Issue 1, Page 207-224, January 2024.
Abstract Objective Late‐onset GM2 gangliosidosis (LOGG) subtypes late‐onset Tay‐Sachs (LOTS) and Sandhoff disease (LOSD) are ultra‐rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric symptoms. Previous studies considered LOTS and LOSD clinically indistinguishable; recent studies have challenged this.
Neha P. Godbole, Elizabeth Haxton, Olivia E. Rowe, Joseph J. Locascio, Jeremy D. Schmahmann, Florian S. Eichler, Eva‐Maria Ratai, Christopher D. Stephen   +7 more
wiley   +1 more source

Genetics and therapies for GM2 gangliosidosis [PDF]

, 2018
Tay-Sachs disease, caused by impaired β-N-acetylhexosaminidase activity, was the first GM2 gangliosidosis to be studied and one of the most severe and earliest lysosomal diseases to be described.

core   +3 more sources

Assessing the potential of rAAV9 systemic gene therapy for GM2 gangliosidoses using a Sandhoff mouse model

, 2014
The infantile GM2 gangliosidoses are severe neurodegenerative disorders, caused by a defect in the β-hexosaminidase system. They are characterized by lysosomal accumulation of the substrate, GM2 ganglioside, which results in severe neuronal damage and ...
Altaleb, Naderah
core  

Intracerebroventricular administration of a modified hexosaminidase ameliorates late-stage neurodegeneration in a GM2 mouse model.

PLoS ONE
The GM2 gangliosidoses, Tay-Sachs disease and Sandhoff disease, are devastating neurodegenerative disorders caused by β-hexosaminidase A (HexA) deficiency.
Manuel E Lopez, Daniel Wendt, Roger Lawrence, Kerui Gong, Hoonsan Ong, Bryan Yip, Joseph Chen, Linley Mangini, Britta Handyside, Alexander Giaramita, Aashish Lamichhane, Melanie Lo, Vishal Agrawal, Jeremy Van Vleet, Amanda Abolhesn, Jessica B Felix, Isaac Villalpando, Vikas Bhat, Rolando De Angelis, Yuanbin Ru, Ayesha Khan, Sylvia Fong, Terri Christianson, Sherry Bullens, Brett E Crawford, Stuart Bunting, Mika Aoyagi-Scharber   +26 more
doaj   +1 more source