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MCOLN3 gene

Known as: MCOLN3, TRP-ML3, TRANSIENT RECEPTOR POTENTIAL CATION CHANNEL, MUCOLIPIN SUBFAMILY, MEMBER 3 
 
National Institutes of Health

Papers overview

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Highly Cited
2015
Highly Cited
2015
Vertebrate cells have evolved elaborate cell-autonomous defense programs to monitor subcellular compartments for infection and to… Expand
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Highly Cited
2010
Highly Cited
2010
We conducted a high-throughput screen for small molecule activators of the TRPML3 ion channel, which, when mutated, causes… Expand
Highly Cited
2009
Highly Cited
2009
TRPML3 is an inward rectifying Ca2+ channel that is regulated by extracytosolic H+. Although gain‐of‐function mutation in TRPML3… Expand
Highly Cited
2008
Highly Cited
2008
Varitint-waddler (Va and VaJ) mice are deaf and have vestibular impairment, with inner ear defects that include the degeneration… Expand
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Highly Cited
2007
Highly Cited
2007
Homozygote varitint-waddler (Va) mice, expressing a mutant isoform (A419P) of TRPML3 (mucolipin 3), are profoundly deaf and… Expand
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Highly Cited
2007
Highly Cited
2007
Transient receptor potential (TRP) genes of the mucolipin subfamily (TRPML1–3 and MCOLN1–3) are presumed to encode ion channel… Expand
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Highly Cited
2007
Highly Cited
2007
TRPML3 is a member of the TRPML subfamily of the transient receptor potential cation channel superfamily. The TRPML3(A419P… Expand
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Highly Cited
2007
Highly Cited
2007
In mammals, the mucolipin family includes three members mucolipin‐1, mucolipin‐2, and mucolipin‐3 (MCOLN1–3). While mutations in… Expand
Highly Cited
2006
Highly Cited
2006
Mucolipidosis type IV is an autosomal recessive lysosomal storage disorder characterized by severe neurodegeneration… Expand
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Highly Cited
2002
Highly Cited
2002
Deafness in spontaneously occurring mouse mutants is often associated with defects in cochlea sensory hair cells, opening an… Expand
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