Results 21 to 30 of about 2,912 (144)

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, Pavone Francesco S., Calamai Martino   +2 more
doaj   +2 more sources

Critical role of iron in the pathogenesis of the murine gangliosidoses

Neurobiology of Disease, 2009
Neurodegeneration is a prominent feature of the gangliosidoses, a group of lysosomal storage diseases. Here we show altered iron homeostasis in mouse models of both GM1 and GM2 gangliosidoses, which are characterized by progressive depletion of iron in ...
Mylvaganam Jeyakumar, Ian Williams, David A. Smith, Timothy M. Cox, Frances M. Platt   +4 more
doaj   +2 more sources

Alkaline Phosphatase and Infantile GM1 Gangliosidosis: A Simple Biomarker for a Complex Disease? [PDF]

JIMD Rep
ABSTRACT GM1 gangliosidosis is a lysosomal storage disease (LSD) caused by β‐galactosidase deficiency, characterized by the accumulation of gangliosides in various tissues. Among different GM1 forms (infantile form, late‐infantile and juvenile form, and late‐onset form), the infantile form is the most severe: despite an early clinical onset with rapid ...
Fiori L, Turzi M, Tagi VM, Asnaghi L, Bonaventura E, Tonduti D, Spaccini L, Saielli LA, Montanari C, Cairello F, Mannarino S, Ferrario M, Del Longo A, Napolitano M, Righini A, Semeraro M, Venerando A, Miceli M, Verduci E, Zuccotti G.   +19 more
europepmc   +2 more sources

Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses. [PDF]

Neurology, 2023
BACKGROUND AND OBJECTIVE GM2 gangliosidoses (Tay-Sachs and Sandhoff diseases) are rare, autosomal-recessive, neurodegenerative diseases with no available symptomatic or disease modifying treatments. This clinical trial investigated N-acetyl-L-leucine (
Martakis K, Claassen J, Gascon-Bayari J, Goldschagg N, Hahn A, Hassan A, Hennig A, Jones S, Kay R, Lau H, Perlman S, Sharma R, Schneider S, Bremova-Ertl T.   +13 more
europepmc   +3 more sources

Epidemiology of progressive intellectual and neurological deterioration in UK children. [PDF]

Dev Med Child Neurol
This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Verity CM, Maunder PJ, Winstone AM, Pal S.   +3 more
europepmc   +2 more sources

Development and characterization of GM2 gangliosidoses mouse models

, 2023
GM2 gangliosidoses are a group of rare lysosomal storage disorders (LSDs) characterized by lysosomal accumulation of GM2 ganglioside in the nervous system, resulting in a range of neurodegenerative disorders. These disorders result from mutations in the genes encoding the 𝛼- or 𝛽-subunits of the enzyme 𝛽-hexosaminidase A (HexA), or more rarely the GM2 ...
Barker, Emily
openaire   +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   +1 more source

Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts. [PDF]

Biochem Biophys Rep, 2016
GM2 gangliosidoses are autosomal recessive lysosomal storage diseases (LSDs) caused by mutations in the HEXA, HEXB and GM2A genes, which encode the human lysosomal β-hexosaminidase (Hex) α- and β-subunits, and GM2 activator protein (GM2A), respectively ...
Kitakaze K, Tasaki C, Tajima Y, Hirokawa T, Tsuji D, Sakuraba H, Itoh K.   +6 more
europepmc   +4 more sources

Neurofilament light chain (NfL) as a surrogate outcome measure for GM2 gangliosidoses. [PDF]

J Neurol
Background The GM2 gangliosidoses (GM2) are ultra-rare neurodegenerative disorders caused by deficient hexosaminidase A and/or B activity, leading to lysosomal GM2 ganglioside accumulation.
Martakis K, Abreu NJ, Baker JJ, Baker Ii PR, Billington I, Burrow TA, Factor M, Fields T, Fields C, Gannon JL, Grosso M, Kerthi J, Patterson MC, Shayota BJ, Strupp M, Strupp L, Bremova-Ert T.   +16 more
europepmc   +3 more sources

Generation of mice with combined Hexa Gly269Ser KI or KO and Neu3 KO alleles to create new models of GM2 gangliosidoses [PDF]

Biology Open
Emily N. Barker, Mehrafarin Ashiri, Jennifer T. Saville, Richard Hemming, Nikolas Furletti, Shreya H. Dhume, Shirley Yu, Elaine Anjos, Xiaoli Wu, Agnes Fresnoza, David C. Merz, Mike Jackson, Marc R. Del Bigio, Tabrez J. Siddiqui, Maria Fuller, Brian L. Mark, Barbara Triggs-Raine   +16 more
doaj   +2 more sources