Life-Limiting Peripheral Organ Dysfunction in Feline Sandhoff Disease Emerges after Effective CNS Gene Therapy. [PDF]
Ann Neurol, 2023 Objective: GM2 gangliosidosis is usually fatal by 5 years of age in its 2 major subtypes, Tay-Sachs and Sandhoff disease. First reported in 1881, GM2 gangliosidosis has no effective treatment today, and children succumb to the disease after a protracted ...
Johnson AK +18 more
europepmc +2 more sources
Cerebral organoids derived from Sandhoff disease-induced pluripotent stem cells exhibit impaired neurodifferentiation. [PDF]
J Lipid Res, 2018 Sandhoff disease, one of the GM2 gangliosidoses, is a lysosomal storage disorder characterized by the absence of beta-hexosaminidase A and B activity and the concomitant lysosomal accumulation of its substrate, GM2 ganglioside.
Allende ML +8 more
europepmc +2 more sources
Lyso-GM2 ganglioside: a possible biomarker of Tay-Sachs disease and Sandhoff disease. [PDF]
, 2011 To find a new biomarker of Tay-Sachs disease and Sandhoff disease. The lyso-GM2 ganglioside (lyso-GM2) levels in the brain and plasma in Sandhoff mice were measured by means of high performance liquid chromatography and the effect of a modified ...
Kawashima Ikuo +23 more
core +2 more sources
Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation. [PDF]
Pol J Radiol, 2016 BACKGROUND: Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes.
Beker-Acay M +4 more
europepmc +4 more sources
Atypical presentation of late-onset Sandhoff disease: case report [PDF]
, 2021 Sandhoff disease is a rare type of hereditary (autosomal recessive) GM2-gangliosidosis, which is caused by mutation of the HEXB gene. Disruption of the β subunit of the hexosaminidase (Hex) enzyme affects the function of both the Hex-A and Hex-B isoforms.
Deegan Patrick B. +8 more
core +1 more source
Adult onset Sandhoff disease: a rare mimicker of amyotrophic lateral sclerosis [PDF]
, 2020 Sandhoff disease is an under-recognized disease that may present as a lower motor neuron disorder in adulthood. We report the case of siblings presenting in their late 40s with a motor neuron disease phenotype and were misdiagnosed as amyotrophic lateral
Elia Malek +5 more
core +1 more source
TUMOR NECROSIS FACTOR ALPHA (TNFα) in SANDHOFF DISEASE PATHOLOGY [PDF]
, 2014 Sandhoff disease (SD) is a monogenic lysosomal storage disorder caused by a lack of a functional β-subunit of the beta-hexosaminidase A and B enzymes.
Abou-Ouf, Hatem A.
core +1 more source
THE ENDOPLASMIC RETICULUM STRESS RESPONSE IN THE PROGRESSION OF SANDHOFF DISEASE [PDF]
, 2022 Sandhoff disease (SD), a fatal lysosomal storage disease, results from a deficiency of the β-subunit of the β-hexosaminidase A and B enzymes. This deficiency leads to severe accumulation of GM2 gangliosides in lysosomes within the central nervous system (
Weaver, Fiona
core +1 more source
MECHANISMS OF NEURODEGENERATION IN A MOUSE MODEL OF SANDHOFF DISEASE [PDF]
, 2016 Lysosomal storage disorders are a group of rare neurodegenerative diseases that are collectively common, sharing many aspects with other neurodegenerative disorders, including substrate build-up and neuroinflammation.
Hooper, Alexander William Maurice
core +1 more source
Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]
, 2010 The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J +59 more
core +1 more source