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Gangliosidoses, GM2
Known as:
GM2, Gangliosidoses
, Gangliosidose, GM2
, Gangliosidoses GM2
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A group of recessively inherited diseases characterized by the intralysosomal accumulation of G(M2) GANGLIOSIDE in the neuronal cells. Subtypes…
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National Institutes of Health
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Related topics
Related topics
10 relations
BETA-N-ACETYLHEXOSAMINIDASE
HEXA gene
In Blood
Microbiological
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Narrower (1)
Tay-Sachs Disease
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2016
Review
2016
The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.
D. Regier
,
R. Proia
,
A. d’Azzo
,
C. Tifft
Pediatric Endocrinology Reviews: diabetes…
2016
Corpus ID: 46385230
The gangliosidoses are lysosomal storage disorders caused by accumulation of GM1 or GM2 gangliosides. GM1 gangliosidosis has both…
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2011
2011
Adeno-associated virus-mediated expression of β-hexosaminidase prevents neuronal loss in the Sandhoff mouse brain.
T. Sargeant
,
Susan Z. Wang
,
+7 authors
M. Cachón-González
Human Molecular Genetics
2011
Corpus ID: 14165085
Sandhoff disease, a GM2 gangliosidosis caused by a deficiency in β-hexosaminidase, is characterized by progressive…
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Highly Cited
2004
Highly Cited
2004
Prevalence of lysosomal storage diseases in Portugal
R. Pinto
,
C. Caseiro
,
+12 authors
M. C. Miranda
European Journal of Human Genetics
2004
Corpus ID: 28335202
Lysosomal storage diseases (LSDs) are a group of inherited metabolic disorders individually considered as rare, and few data on…
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Highly Cited
2004
Highly Cited
2004
Possible role of autoantibodies in the pathophysiology of GM2 gangliosidoses.
A. Yamaguchi
,
Kayoko Katsuyama
,
K. Nagahama
,
T. Takai
,
I. Aoki
,
S. Yamanaka
Journal of Clinical Investigation
2004
Corpus ID: 7955239
Mice containing a disruption of the Hexb gene have provided a useful model system for the study of the human lysosomal storage…
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Highly Cited
2003
Highly Cited
2003
Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis.
M. Jeyakumar
,
R. Thomas
,
+7 authors
F. Platt
Brain : a journal of neurology
2003
Corpus ID: 14196475
Mouse models of the GM2 gangliosidoses [Tay-Sachs, late onset Tay-Sachs (LOTS), Sandhoff] and GM1 gangliosidosis have been…
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Review
1999
Review
1999
Biochemical consequences of mutations causing the GM2 gangliosidoses.
D. Mahuran
Biochimica et Biophysica Acta
1999
Corpus ID: 25277998
1992
1992
Accumulation of Lysosphingolipids in Tissues from Patients with GM1 and GM2 Gangliosidoses
Takurou Kobayashi
,
I. Goto
,
S. Okada
,
T. Orii
,
K. Ohno
,
T. Nakano
Journal of Neurochemistry
1992
Corpus ID: 45358347
Abstract: By using a sensitive method, we assayed lysocom‐pounds of gangliosides and asialogangliosides in tissues from four…
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Review
1991
Review
1991
The clinical aspects of adult hexosaminidase deficiencies.
A. Federico
,
S. Palmeri
,
A. Malandrini
,
G. Fabrizi
,
M. Mondelli
,
G. Guazzi
Developmental Neuroscience
1991
Corpus ID: 3314050
The authors describe the clinical phenotypes of hexosaminidase deficiencies (GM2 gangliosidosis). The symptoms, differently…
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1990
1990
Increased density of the thalamus on CT scans in patients with GM2 gangliosidoses.
J. Brismar
,
G. Brismar
,
R. Coates
,
G. Gascon
,
P. Ozand
AJNR. American journal of neuroradiology
1990
Corpus ID: 1275760
In 13 patients, the GM2 gangliosidoses, Sandhoff disease and Tay-Sachs disease, were found to be constantly associated with…
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Highly Cited
1985
Highly Cited
1985
Incorporation and metabolism of ganglioside GM2 in skin fibroblasts from normal and GM2 gangliosidosis subjects.
S. Sonderfeld
,
E. Conzelmann
,
G. Schwarzmann
,
J. Burg
,
U. Hinrichs
,
K. Sandhoff
European Journal of Biochemistry
1985
Corpus ID: 6427133
Ganglioside GM2, 3H-labeled in the sphingoid base, was added to the culture medium of normal and GM2 gangliosidosis fibroblasts…
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