Mucolipidoses

Known as: Mucolipidosis, Sialidosis, Mucolipidoses [Disease/Finding] 
A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or… (More)
National Institutes of Health

Papers overview

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Highly Cited
2008
Highly Cited
2008
TRPML1 (mucolipin 1, also known as MCOLN1) is predicted to be an intracellular late endosomal and lysosomal ion channel protein… (More)
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Highly Cited
2008
Highly Cited
2008
Disruption of the Transient Receptor Potential (TRP) mucolipin 1 (TRPML1) channel results in the neurodegenerative disorder… (More)
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Highly Cited
2006
Highly Cited
2006
Mucolipidosis type IV is a genetic lysosomal storage disease associated with degenerative processes in the brain, eye, and other… (More)
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Highly Cited
2006
Highly Cited
2006
Mucolipidosis type IV is an autosomal recessive lysosomal storage disorder characterized by severe neurodegeneration… (More)
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2005
2005
Glycosaminoglycans are accumulated in both mucopolysaccharidoses (MPS) and mucolipidoses (ML). MPS I, II, III and VII and ML II… (More)
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2005
2005
The mucopolysaccharidoses (MPS) is characterized by accumulation of glycosaminoglycans (GAGs), and mucolipidosis (ML) by… (More)
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Highly Cited
2000
Highly Cited
2000
Mucolipidosis type IV (MLIV) is a developmental neurodegenerative disorder characterized by severe neurologic and ophthalmologic… (More)
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Highly Cited
2000
Highly Cited
2000
Mucolipidosis type IV (MLIV) is an autosomal recessive, neurodegenerative, lysosomal storage disorder characterized by… (More)
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Highly Cited
1999
Highly Cited
1999
phingolipid-storage diseases (SLSDs) generally result from a defective lysosomal hydrolase or activator-protein cofactors, which… (More)
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Highly Cited
1981
Highly Cited
1981
Newly synthesized acid hydrolases, destined for transport to lysosomes, acquire a phosphomannosyl targeting signal by the… (More)
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