Type I Mucolipidosis

Known as: CHERRY RED SPOT--MYOCLONUS SYNDROME, MYOCLONUS--CHERRY RED SPOT SYNDROME, Mucolipidoses, Type I 
An autosomal recessive inherited lysosomal storage disease characterized by excessive intracellular accumulation and urinary excretion of sialic acid… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

1977-2017
05101519772017

Papers overview

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2008
2008
We recently established that the elastin-binding protein, which is identical to the spliced variant of beta-galactosidase, forms… (More)
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2008
2008
Lysosomal exocytosis is a Ca2+-regulated mechanism that involves proteins responsible for cytoskeletal attachment and fusion of… (More)
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2006
2006
We have established previously that the 67-kDa elastin-binding protein (EBP), identical to the spliced variant of beta… (More)
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Highly Cited
2002
Highly Cited
2002
In this report we demonstrate that soluble peptides, elastin degradation products stimulate proliferation of arterial smooth… (More)
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2000
2000
Lysosomal neuraminidase is the key enzyme for the intralysosomal catabolism of sialylated glycoconjugates and is deficient in two… (More)
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Highly Cited
1999
Highly Cited
1999
CONTEXT Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited… (More)
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1998
1998
Human lysosomal N-acetyl-alpha-neuraminidase is deficient in two lysosomal storage disorders, sialidosis, caused by structural… (More)
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1997
1997
Sialidase (neuraminidase, EC 3.2.1.18) catalyses the hydrolysis of terminal sialic acid residues of glyconjugates. Sialidase has… (More)
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1992
1992
It has been shown that sphingolipid activator proteins (SAPs) 1 and 2 are encoded on the same gene along with two other putative… (More)
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Highly Cited
1982
Highly Cited
1982
In normal human fibroblasts, an enzymically active 85,000-dalton precursor form of beta-galactosidase is processed, via a number… (More)
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