Results 81 to 90 of about 4,924 (178)
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 +3 more
doaj +1 more source
Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders
Journal of Inherited Metabolic Disease, Volume 48, Issue 4, July 2025.ABSTRACT Lysosomal disorders (LSDs) are a group of rare metabolic disorders, with an overall incidence of 1:4800 to 1:8000 live births. LSDs are primarily caused by dysfunctional lysosomal enzymes, which typically lead to the progressive accumulation of substrates within cellular lysosomes.
Maryann Lorino, Bei Qiu, Brian Bigger
wiley +1 more source
Bony Abnormalities in Feline Models of GM2 Gangliosidosis [PDF]
, 2014 This study seeks to explore and quantify bony deformities in feline models affected with GM2 gangliosidosis with emphasis on long bones and cervical vertebrae, based on previous diagnostics exhibiting cervical spinal cord compression, luxating ...
Beadlescomb, Patricia
core
, 1985 A case of GM2 gangliosidosis is reported: the diagnosis has been made by clinical findings showing macular cherry-red spot and a progressive neurologic symptomatology with epilepsy, by electron microscopic observation in conjunctival fibroblasts of ...
Cioni, M. +8 more
core +2 more sources
A propósito de un caso de gangliosidosis GM-2 tipo II: enfermedad de Sandhoff
Revista Médica Electrónica, 2015 Las gangliosidosis son un conjunto de enfermedades hereditarias de almacenamiento lisosómico, debidas a un acúmulo de gangliósidos, sobre todo en las neuronas.
Irelis González López +5 more
doaj
Complete localization of disulfide bonds in GM2 activator protein
, 1998 Lysosomal degradation of ganglioside GM2 by hexosaminidase A requires the presence of a small, non-enzymatic cofactor, the GM2-activator protein (GM2AP).
Gereon J. Glombitza +7 more
core +1 more source
, 2022 Supplemental material, sj-tif-2-jor-10.1177_20551169221074964 for Skeletal radiographic manifestations of GM2 gangliosidosis variant 0 (Sandhoff disease) in two Japanese domestic cats by Yoshihiko Yu, Daisuke Hasegawa, Yuji Hamamoto, Shunta Mizoguchi ...
Yoshihiko Yu (4684414) +7 more
core +1 more source
An Inducible Mouse Model of Late Onset Tay–Sachs Disease
Neurobiology of Disease, 2002 Mouse models of the GM2 gangliosidoses, Tay–Sachs and Sandhoff disease, are null for the hexosaminidase α and β subunits respectively. The Sandhoff (Hexb−/−) mouse has severe neurological disease and mimics the human infantile onset variant. However, the
Mylvaganam Jeyakumar +10 more
doaj +1 more source
, 2010 GM2 gangliosidosis type Sandhoff is caused by a defect of beta-hexosaminidase, an enzyme involved in the catabolism of gangliosides. It has been proposed that substrate reduction therapy using N-butyl-deoxynojirimycin (miglustat) may delay neurological ...
Silvestri, Gabriella
core +1 more source
, 2022 Supplemental material, sj-docx-1-jor-10.1177_20551169221074964 for Skeletal radiographic manifestations of GM2 gangliosidosis variant 0 (Sandhoff disease) in two Japanese domestic cats by Yoshihiko Yu, Daisuke Hasegawa, Yuji Hamamoto, Shunta Mizoguchi ...
Yoshihiko Yu (4684414) +7 more
core +1 more source