Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Together, we show that TRPML1 is a multistep regulator of autophagy that may be targeted for therapeutic purposes to treat LSDs and other autophagic disorders.
|
31822666 |
2019 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in MCOLN1 cause mucolipidosis type IV (MLIV), a progressive and severe lysosomal storage disorder with a slow onset.
|
31317194 |
2019 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Moreover, we will also discuss new potential therapeutic approaches for MLIV and LSDs based on the modulation of TRPML1-mediated signaling.
|
28689729 |
2018 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations of TRPML1 cause a severe lysosomal storage disorder called mucolipidosis type IV (MLIV).
|
28936784 |
2017 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Lysosomal Ca<sup>2+</sup> release is mediated by the transient receptor potential (TRP) family member TRPML1, mutations that cause the lysosomal storage disease mucolipidosis type 4.
|
27589205 |
2017 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
TRPML1 mutations cause mucolipidosis type IV (MLIV), a severe lysosomal storage disorder characterized by neurodegeneration, mental retardation and blindness.
|
28112729 |
2017 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
TRPML1 is associated with the human lysosomal storage disease known as mucolipidosis type IV (MLIV), but TRPML2 and TRPML3 have not been linked with a human disease.
|
26336837 |
2016 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
During autophagy, aberrant regulation of the lysosomal Ca(2+) efflux channel TRPML1 [transient receptor potential mucolipin 1 (MCOLN1)], also known as MCOLN1, is solely responsible for the human LSD mucolipidosis type IV (MLIV); however, the exact mechanisms involved in the development of the pathology of this LSD are unknown.
|
26195823 |
2015 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in MCOLN1, the gene coding for TRPML1, cause the LSD (lysosomal storage disease) MLIV (mucolipidosis type IV).
|
24192042 |
2014 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mucolipidosis type IV (MLIV) is a lysosomal storage disease caused by mutations in the gene MCOLN1, which codes for the transient receptor potential family ion channel TRPML1.
|
22262857 |
2012 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Loss-of-function mutations in mucolipin 1 (MCOLN1) result in mucolipidosis type IV (MLIV), a lysosomal storage disorder characterized by severe mental and psychomotor retardation.
|
21224396 |
2011 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
TRPML1 is a lysosomal ion channel whose malfunction is implicated in the lysosomal storage disease Mucolipidosis Type IV.
|
21621258 |
2011 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Loss of TRPML1 results in the lysosomal storage disorder Mucolipidosis type IV.
|
20540742 |
2010 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Loss of function mutations in mucolipin-1 (MCOLN1) have been linked to mucolipidosis type IV (MLIV), a recessive lysosomal storage disease characterized by severe neurological and ophthalmological abnormalities.
|
19864416 |
2009 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
TRPML1 is a lysosomal membrane protein, and thus, MLIV is a lysosomal storage disorder.
|
19247216 |
2009 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
The founding member of this family, TRPML1, was cloned during the search for the genetic determinants of the lysosomal storage disease mucolipidosis type IV (MLIV).
|
19158345 |
2009 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Disruption of the Transient Receptor Potential (TRP) mucolipin 1 (TRPML1) channel results in the neurodegenerative disorder mucolipidosis type IV (MLIV), a lysosomal storage disease with severe motor impairments.
|
19041749 |
2008 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mucolipin-1 is a membrane protein encoded by the gene MCOLN1, mutations in which result in the lysosomal storage disorder mucolipidosis type IV (MLIV).
|
16978393 |
2006 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Mutations in MCOLN1, which encodes the protein h-mucolipin-1, result in the lysosomal storage disease Mucolipidosis Type IV.
|
16530747 |
2006 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
The gene MCOLN1 is mutated in Mucolipidosis type IV (MLIV), a neurodegenerative, recessive, lysosomal storage disorder.
|
11317355 |
2001 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in MCOLN1 have been found to cause mucolipidosis type IV (MLIV; MIM 252650), a rare autosomal recessive lysosomal storage disorder found primarily in the Ashkenazi Jewish population.
|
11318610 |
2001 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Loss of the human mucolipin-1 gene underlies mucolipidosis type IV (MLIV), a lysosomal storage disease that results in severe developmental neuropathology.
|
11326278 |
2001 |