Results 51 to 60 of about 1,277 (157)
A Fatal Case of Generalized Lysosomal Storage Disease in an Infant. [PDF]
, 2010 Gangliosidoses are a heterogeneous group of lysosomal storage diseases with an autosomal recessive trait, which are characterized by the intracellular accumulation of gangliosides in several tissues, mainly in neurons.
Ancer Rodríguez, Jesús +7 more
core
A Case Report of Sandhoff Disease [PDF]
, 2010 Sandhoff disease is a rare and severe lysosomal storage disorder representing 7% of GM2 gangliosidoses. Bilateral thalamic involvement has been suggested as a diagnostic marker of Sandhoff disease.
A Yüksel +16 more
core +2 more sources
Unraveling Lysosomal Exocytosis: From Molecular Mechanisms to Physiological Functions
Traffic, Volume 27, Issue 1, March 2026.Lysosomal exocytosis is propelled by specific molecular mechanisms that direct its microtubule‐dependent transport and subsequent fusion with the plasma membrane. This process fulfills essential physiological functions such as plasma membrane repair, maintenance of cellular homeostasis, and participation in signal transduction.
Shanshan Jiang +7 more
wiley +1 more source
Aberrant Ganglioside Functions to Underpin Dysregulated Myelination, Insulin Signalling, and Cytokine Expression: Is There a Link and a Room for Therapy? [PDF]
, 2022 Gangliosides are molecules widely present in the plasma membranes of mammalian cells, participating in a variety of processes, including protein organization, transmembrane signalling and cell adhesion. Gangliosides are abundant in the grey matter of the
de Munter, Johannes +8 more
core +1 more source
Late Onset Tay-Sachs Disease Presenting as a Brief Psychotic Disorder with Catatonia: A Case Report and Review of the Literature [PDF]
, 2012 This is a case report of late onset Tay-Sachs Disease diagnosed in a 14-year-old male non-Jewish adolescent who presented in a psychotic and catatonic state. The objective is to emphasize that Tay-Sachs disease can present with psychiatric symptoms, with
Saleh, Osama, M.D.
core +1 more source
Les sphingolipides : vecteurs d’agents pathogènes et cause de maladies génétiques [PDF]
, 2006 Les sphingolipides (SPL) sont des molécules ubiquitaires indispensables au maintien et au développement des organismes vivants. Ils ne sont pas répartis uniformément le long de la membrane mais regroupés sous forme de microdomaines lipidiques appelés ...
Fasano, Caroline +3 more
core +1 more source
Phenotypic characterisation of human iPSC neuronal models of GM2 gangliosidoses [PDF]
Gangliosides are crucial components on the outer leaflet of the plasma membrane of many cells, especially neurons. Their functions are broad and varied but their high abundance in neurons leaves these cells especially vulnerable to the effects of their ...
core +2 more sources
Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor +7 more
wiley +1 more source
Mutation in GM2A Leads to a Progressive Chorea-Dementia Syndrome [PDF]
, 2006 Background: The etiology of many cases of childhood-onset chorea remains undetermined, although advances in genomics are revealing both new disease-associated genes and variant phenotypes associated with known genes.
Salih, Mustafa A. +11 more
core +5 more sources
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