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Sandhoff Disease
Known as:
Sandhoff Jatzkewitz disease
, GM2 Gangliosidosis, Type II
, Hexosaminidase A and B Deficiency Disease
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An autosomal recessive inherited lysosomal storage disorder caused by mutations in the HEXB gene. It is characterized by deficiency of the enzyme…
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National Institutes of Health
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Related topics
Related topics
15 relations
BETA-N-ACETYLHEXOSAMINIDASE
G(M2) Ganglioside
Hexosaminidase A
In Blood
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Broader (3)
Cerebral lipidoses
Enzyme Deficiency
Gangliosidoses
Narrower (1)
Infantile Sandhoff Disease
Papers overview
Semantic Scholar uses AI to extract papers important to this topic.
Review
2013
Review
2013
Lysophospholipids and their receptors in the central nervous system.
J. Choi
,
J. Chun
Biochimica et biophysica acta
2013
Corpus ID: 35619735
Highly Cited
2006
Highly Cited
2006
Hypoxic culture induces expression of sialin, a sialic acid transporter, and cancer-associated gangliosides containing non-human sialic acid on human cancer cells.
Jun Yin
,
Ayako Hashimoto
,
+11 authors
R. Kannagi
Cancer research
2006
Corpus ID: 43116334
Tumor hypoxia figures heavily in malignant progression by altering the intracellular glucose metabolism and inducing angiogenic…
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Highly Cited
2004
Highly Cited
2004
Deletion of macrophage-inflammatory protein 1 alpha retards neurodegeneration in Sandhoff disease mice.
Yun-Ping Wu
,
R. Proia
Proceedings of the National Academy of Sciences…
2004
Corpus ID: 7462975
Sandhoff disease is a prototypical lysosomal storage disorder in which a heritable deficiency of a lysosomal enzyme, beta…
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Highly Cited
2000
Highly Cited
2000
Microglial activation precedes acute neurodegeneration in Sandhoff disease and is suppressed by bone marrow transplantation.
R. Wada
,
C. Tifft
,
R. Proia
Proceedings of the National Academy of Sciences…
2000
Corpus ID: 25590337
Sandhoff disease is a lysosomal storage disorder characterized by the absence of beta-hexosaminidase and storage of G(M2…
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Highly Cited
1999
Highly Cited
1999
Delayed symptom onset and increased life expectancy in Sandhoff disease mice treated with N-butyldeoxynojirimycin.
M. Jeyakumar
,
T. Butters
,
+5 authors
F. Platt
Proceedings of the National Academy of Sciences…
1999
Corpus ID: 7066228
Sandhoff disease is a neurodegenerative disorder resulting from the autosomal recessive inheritance of mutations in the HEXB gene…
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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
Highly Cited
1997
Highly Cited
1997
Apoptotic cell death in mouse models of GM2 gangliosidosis and observations on human Tay-Sachs and Sandhoff diseases.
J. Q. Huang
,
J. Trasler
,
Suleiman A. Igdoura
,
J. Michaud
,
N. Hanal
,
R. Gravel
Human molecular genetics
1997
Corpus ID: 9010634
Tay-Sachs and Sandhoff diseases are autosomal recessive neurodegenerative diseases resulting from the inability to catabolize GM2…
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Highly Cited
1996
Highly Cited
1996
Bacterial chitobiase structure provides insight into catalytic mechanism and the basis of Tay–Sachs disease
I. Tews
,
A. Perrakis
,
A. Oppenheim
,
Z. Dauter
,
K. Wilson
,
C. E. Vorgias
Nature Structural Biology
1996
Corpus ID: 27327205
Chitin, the second most abundant polysaccharide on earth, is degraded by chitinases and chitobiases. The structure of Serratia…
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Highly Cited
1974
Highly Cited
1974
A recognition marker required for uptake of a lysosomal enzyme by cultured fibroblasts.
S. Hickman
,
L. Shapiro
,
E. Neufeld
Biochemical and biophysical research…
1974
Corpus ID: 44338215
Highly Cited
1971
Highly Cited
1971
ENZYME ALTERATIONS AND LIPID STORAGE IN THREE VARIANTS OF TAY‐SACHS DISEASE
K. Sandhoff
,
K. Harzer
,
W. Wässle
,
H. Jatzkewitz
Journal of neurochemistry
1971
Corpus ID: 28107036
In autopsy tissues of 12 cases of Tay‐Sachs disease the N‐acetyl‐β‐hexosamini‐dase A and B activities were investigated using…
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