Results 41 to 50 of about 1,188 (166)
Biochemical consequences of mutations causing the GM2 gangliosidoses [PDF]
, 1999 The hydrolysis of GM2-ganglioside is unusual in its requirements for the correct synthesis, processing, and ultimate combination of three gene products.
Mahuran, Don J.
core +1 more source
Natural history study of glycan accumulation in large animal models of GM2 gangliosidoses [PDF]
, 2021 beta-hexosaminidase is an enzyme responsible for the degradation of gangliosides, glycans, and other glycoconjugates containing beta-linked hexosamines that enter the lysosome.
Crawford, Brett E. +8 more
core +1 more source
Sphingolipidoses and Retinal Involvement: A Comprehensive Review
Applied SciencesSphingolipidoses are a class of inherited lysosomal storage diseases, characterized by enzymatic deficiencies that impair sphingolipid degradation. This enzymatic malfunction results in the pathological accumulation of sphingolipids within lysosomes ...
Chiara Carrozzi +6 more
doaj +1 more source
Frontiers in Molecular Neuroscience, 2021 In recent years, gene therapy has been raising hopes toward viable treatment strategies for rare genetic diseases for which there has been almost exclusively supportive treatment. We here review this progress at the pre-clinical and clinical trial levels
Thomas Leth Jensen +2 more
doaj +1 more source
A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase
, 2019 PubMedID: 30712135Gangliosidoses (GM1 and GM2 gangliosidosis) are rare, autosomal recessive progressive neurodegenerative lysosomal storage disorders caused by defects in the degradation of glycosphingolipids.
Biberoğlu G. +4 more
core +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 +2 more
doaj +1 more source
Glycolipid abnormalities in a myoclonic variant of late infantile amaurotic idiocy
Journal of Lipid Research, 1970 Glycolipids were isolated from the brain of a patient with a myoclonic variant of late infantile amaurotic idiocy. There was an abnormal glycolipid pattern in gray and white matter.
Guenter G. Bartsch
doaj +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
Revista de la Facultad de Medicina, 2019 Introduction: Lysosomal storage disease is caused by the deficiency of a single hydrolase (lysosomal enzymes). GM2 gangliosidoses are autosomal recessive disorders caused by deficiency of β-hexosaminidase and Tay-Sachs disease (TSD) is one of its three ...
Carlos Andrés Gualdrón-Frías +1 more
doaj +1 more source
Integrative genomic and functional analyses reveal NINL as a modulator of tau aggregation
Alzheimer's &Dementia, Volume 22, Issue 4, April 2026.Abstract INTRODUCTION Proteostasis dysfunction is a hallmark of frontotemporal dementia (FTD) and Alzheimer's disease (AD), yet the genetic and molecular pathways that disrupt protein homeostasis remain poorly understood. METHODS We integrated human genetics, transcriptomics, and functional studies to identify proteostasis network components involved ...
Samantha K. Swift +14 more
wiley +1 more source