Mucolipidosis Type IV

Known as: MUCOLIPIDOSIS IV, SIALOLIPIDOSIS, ML IV 
An autosomal recessive lysosomal storage disease caused by mutations in the MCOLN1 gene. It is characterized by psychomotor developmental delays and… (More)
National Institutes of Health

Papers overview

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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
2008
Highly Cited
2008
Mutations in Mucolipin 1 (MCOLN1) have been linked to mucolipidosis type IV (MLIV), a lysosomal storage disease characterized by… (More)
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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
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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2002
2002
BACKGROUND Mucolipidosis type IV (MLIV) is an autosomal recessive disease caused by mutations in the MCOLN1 gene that codes for… (More)
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Review
2001
Review
2001
Mucolipidosis type IV (MLIV) is a neurodegenerative lysosomal storage disorder characterized by psychomotor retardation and… (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
2000
Highly Cited
2000
Mucolipidosis type IV (MLIV) is a developmental neurodegenerative disorder characterized by severe neurologic and ophthalmologic… (More)
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1999
1999
The lysosomal pH in Mucolipidosis type IV (ML-IV) and several other storage disease fibroblasts (Niemann Pick, type A; Niemann… (More)
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Highly Cited
1998
Highly Cited
1998
Mucolipidosis, type IV (ML-IV) is an autosomal recessive storage disease that is characterized by lysosomal accumulation of… (More)
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