Journal of Inherited Metabolic Disease, Volume 48, Issue 1, January 2025.Abstract Herein, we studied the expression of endocannabinoid receptor 2 (CB2R), a known inflammation mediator, in several lysosomal storage disorder (LSD) animal models and evaluated it as a potential biomarker and therapeutic target for these diseases.
Calogera M. Simonaro +2 more
wiley +1 more source
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
Journal of Inherited Metabolic Disease, Volume 47, Issue 2, Page 327-339, March 2024.Abstract Cerebellar atrophy is a characteristic sign of late‐onset Tay‐Sachs disease (LOTS). Other structural neuroimaging abnormalities are inconsistently reported. Our study aimed to perform a detailed whole‐brain analysis and quantitatively characterize morphometric changes in LOTS patients.
Jitka Májovská +15 more
wiley +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
Clinical and imaging predictors of late‐onset GM2 gangliosidosis: A scoping review
Annals of Clinical and Translational Neurology, Volume 11, Issue 1, Page 207-224, January 2024.Abstract Objective Late‐onset GM2 gangliosidosis (LOGG) subtypes late‐onset Tay‐Sachs (LOTS) and Sandhoff disease (LOSD) are ultra‐rare neurodegenerative lysosomal storage disorders presenting with weakness, ataxia, and neuropsychiatric symptoms. Previous studies considered LOTS and LOSD clinically indistinguishable; recent studies have challenged this.
Neha P. Godbole +7 more
wiley +1 more source
The Modernization of the Autopsy: Application of Ultrastructural and Biochemical Methods to Human Disease [PDF]
, 1973 The autopsy has provided, and still provides, the stimulus for many attempts to reproduce disease in experimental animal models. This approach has become increasingly difficult, however, in the case of human disease, principally shock.
Cowley, R. Adams +13 more
core +1 more source
A Moment in Human Development: Legal Protection, Ethical Standards and Social Policy on the Selective Non-Treatment of Handicapped Neonates [PDF]
, 1985 Selective non-treatment decisions involving severely handicapped neonates have recently come under renewed judicial and legislative scrutiny. In this article, the author examines the legal, ethical and social considerations attendant to the non-treatment
Gostin, Lawrence O.
core +1 more source
Combined replacement effects of human modified β-hexosaminidase B and GM2 activator protein on GM2 gangliosidoses fibroblasts [PDF]
, 2020 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 ...
Hirokawa, Takatsugu +6 more
core
Peripheral nervous system manifestations in a Sandhoff disease mouse model: nerve conduction, myelin structure, lipid analysis [PDF]
, 2007 Background Sandhoff disease is an inherited lysosomal storage disease caused by a mutation in the gene for the β-subunit (Hexb gene) of β-hexosaminidase A (αβ) and B (ββ).
A Federico +38 more
core +6 more sources
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