Results 41 to 50 of about 5,278 (187)

The juvenile gangliosidoses: A timeline of clinical change

Molecular Genetics and Metabolism Reports, 2020
Background: The gangliosidoses are rare inherited diseases that result in pathologic accumulation of gangliosides in the central nervous system and other tissues, leading to severe and progressive neurological impairment and early death in the childhood ...
Kelly E. King, Sarah Kim, Chester B. Whitley, Jeanine R. Jarnes-Utz   +3 more
doaj   +1 more source

Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation[S]

Journal of Lipid Research, 2018
Sandhoff disease, one of the GM2 gangliosidoses, is a lysosomal storage disorder characterized by the absence of β-hexosaminidase A and B activity and the concomitant lysosomal accumulation of its substrate, GM2 ganglioside.
Maria L. Allende, Emily K. Cook, Bridget C. Larman, Adrienne Nugent, Jacqueline M. Brady, Diane Golebiowski, Miguel Sena-Esteves, Cynthia J. Tifft, Richard L. Proia   +8 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, Karlaina J.L. Osmon, Patrick Thompson, Christopher Richmond, Zhilin Chen, Steven J. Gray, Jagdeep S. Walia   +6 more
doaj   +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, Miguel Sena-Esteves, Douglas R. Martin, Xianlin Han, Alessandra d'Azzo, Thomas N. Seyfried   +5 more
doaj   +1 more source

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   +1 more source

From amaurotic idiocy to biochemically defined lipid storage diseases: the first identification of GM1-Gangliosidosis [PDF]

, 2023
On February 23rd 1936, a boy-child (“Kn”) died in an asylum near Munich after years of severe congenital dis-ease, which had profoundly impaired his development leading to inability to walk, talk and see as well as to severe epilepsy.
Albers, Anne, Kasper, Burkhard S, Kasper, Ekkehard, Sandhoff, Konrad, Thomas, Christian   +4 more
core   +2 more sources

Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses

Cells, 2020
(1) Lysosomal storage diseases are rare inherited disorders with no standardized or commercially available tests for biochemical diagnosis. We present factors influencing the quality of enzyme assays for metachromatic leukodystrophy (MLD) and ...
Sebastian Strobel, Naomi Hesse, Vidiyaah Santhanakumaran, Samuel Groeschel, Gernot Bruchelt, Ingeborg Krägeloh-Mann, Judith Böhringer   +6 more
doaj   +1 more source

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   +1 more source

Myelin Deficits and Intravenous Gene Therapy in Feline Sandhoff Disease [PDF]

, 2021
Sandhoff Disease (SD) is a neurodegenerative lysosomal storage disease (LSD) that results in the death of children before 4 years of age. Because there are no FDA-approved therapies available, current treatment strategies are limited to palliation. SD is
Maguire, Anne
core  

Achados de imagem na doença de Tay-Sachs: um relato de caso

Revista de Medicina da UFC, 2018
Objetivos: Revisar os achados de imagem característicos na doença de Tay-Sachs, um distúrbio autossômico recessivo raro. Metodologia: Relato de caso de um paciente do sexo masculino, de 1 ano e 6 meses de idade, com atraso no desenvolvimento ...
Suyane Benevides Franco, Pedro Henrique Sales Pontes, Elaine Fernandes Andrade Teixeira, Norma Martins de Menezes Morais, Daniel Aguiar Dias   +4 more
doaj   +1 more source