Results 71 to 80 of about 5,278 (187)

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

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

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

Metabolomic studies of lipid storage disorders, with special reference to Niemann-Pick type C disease: a critical review with future perspectives [PDF]

, 2020
Lysosomal storage disorders (LSDs) are predominantly very rare recessive autosomal neurodegenerative diseases.Sphingolipidoses, a sub-group of LSDs, result from defects in lysosomal enzymes involved in sphingolipid catabolism, and feature disrupted ...
Gibson, M, Grootveld, M, Percival, BC, Platt, FM, Wilson, PB   +4 more
core   +2 more sources

Biochemical consequences of mutations causing the GM2 gangliosidoses

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1999
The hydrolysis of GM2-ganglioside is unusual in its requirements for the correct synthesis, processing, and ultimate combination of three gene products. Whereas two of these proteins are the alpha- (HEXA gene) and beta- (HEXB) subunits of beta-hexosaminidase A, the third is a small glycolipid transport protein, the GM2 activator protein (GM2A), which ...
openaire   +2 more sources

A New Liquid Chromatography/Tandem Mass Spectrometry Method for Quantification of Gangliosides in Human Plasma [PDF]

, 2014
Gangliosides are a family of glycosphingolipids characterized by mono- or polysialic acid-containing oligosaccharides linked through 1,3- and 1,4-β glycosidic bonds with subtle differences in structure that are abundantly present in the central nervous ...
Cechner, Karen, Huang, Qianyang, Liu, Danting, Wang, Heng, Xin, Baozhong, Zhou, Aimin, Zhou, Xiang   +6 more
core   +2 more sources

Animal models of GM2 gangliosidosis: utility and limitations

The Application of Clinical Genetics, 2016
Cheryl A Lawson,1,2 Douglas R Martin2,3 1Department of Pathobiology, 2Scott-Ritchey Research Center, 3Department of Anatomy, Physiology and Pharmacology, Auburn University College of Veterinary Medicine, Auburn, AL, USA Abstract: GM2 gangliosidosis, a ...
Lawson CA, Martin DR
doaj  

The Corpus Callosum and its Abnormalities in cats and dogs: three distinct clinical presentations [PDF]

, 2020
Dissertação de Mestrado Integrado em Medicina VeterináriaDissertação de Mestrado Integrado em Medicina VeterináriaThe Corpus Callosum is the greatest of the three telencephalic commissures and is exclusive of placental mammals.
Almeida, Francisca Soares Marques de
core   +1 more source

GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and electroencephalography [PDF]

ObjectivesGangliosidosis is one of the hereditary metabolic diseases caused by the accumulation of Gangliosid in the central nervous system, leading to severe and progressive neurological deficits.
Ahmad Abadi, Farzad, Ebrahimi, Masoomah, Etemad, Korosh, Hosseini Nezhad, Zahra, Karimzadeh, Parvaneh   +4 more
core   +1 more source

New Approaches to Correcting Metabolic Errors in Tay-Sachs [PDF]

, 2016
Tay-Sachs Disease (TSD) is a neurodegenerative disorder categorized as both a gangliosidosis and a lysosomal storage disease. Tay-Sachs is caused by a deficiency in the enzyme ?-hexosaminidase A (Hex A).
Stefanski, Katherin
core   +1 more source