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MCOLN1 gene

Known as: ML4 GENE, TRPML1, MSTP080 
National Institutes of Health

Related topics

Related topics

1 relation
Mucolipidosis Type IV

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2015
Highly Cited
2015
Expression of Ca2+-permeable two-pore channels rescues NAADP signalling in TPC-deficient cells
The second messenger NAADP triggers Ca2+ release from endo‐lysosomes. Although two‐pore channels (TPCs) have been proposed to be… 
Highly Cited
2015
Highly Cited
2015
The Phosphoinositide‐Gated Lysosomal Ca2+ Channel, TRPML1, Is Required for Phagosome Maturation
Macrophages internalize and sequester pathogens into a phagosome. Phagosomes then sequentially fuse with endosomes and lysosomes… 
Highly Cited
2014
Highly Cited
2014
An Intracellular Ca2+ Channel is Required For Sarcolemma Repair to Prevent Muscular Dystrophy
The integrity of the plasma membrane is maintained through an active repair process, especially in skeletal and cardiac muscle… 
Highly Cited
2013
Highly Cited
2013
Genetically encoded fluorescent probe to visualize intracellular phosphatidylinositol 3,5-bisphosphate localization and dynamics
Significance Phosphatidylinositol polyphosphates (PIPs) are transiently generated at specific membrane subdomains. Changes of PIP… 
Highly Cited
2010
Highly Cited
2010
Zinc Dyshomeostasis Is Linked with the Loss of Mucolipidosis IV-associated TRPML1 Ion Channel*
Chelatable zinc is important in brain function, and its homeostasis is maintained to prevent cytotoxic overload. However, certain… 
Highly Cited
2009
Highly Cited
2009
Activating Mutations of the TRPML1 Channel Revealed by Proline-scanning Mutagenesis*
The mucolipin TRP (TRPML) proteins are a family of endolysosomal cation channels with genetically established importance in… 
Review
2007
Review
2007
TRPML and lysosomal function.
Highly Cited
2007
Highly Cited
2007
A helix-breaking mutation in TRPML3 leads to constitutive activity underlying deafness in the varitint-waddler mouse
Homozygote varitint-waddler (Va) mice, expressing a mutant isoform (A419P) of TRPML3 (mucolipin 3), are profoundly deaf and… 
Highly Cited
2006
Highly Cited
2006
Lysosomal Localization of TRPML3 Depends on TRPML2 and the Mucolipidosis-associated Protein TRPML1*
Mucolipidosis type IV is an autosomal recessive lysosomal storage disorder characterized by severe neurodegeneration… 
Review
2001
Review
2001
Physiology, Phylogeny, and Functions of the TRP Superfamily of Cation Channels
The transient receptor potential (TRP) protein superfamily consists of a diverse group of Ca2+ permeable nonselective cation… 
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