|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
One patient did not have mutations in genes related to ACC, but carried a de novo pathogenic mutation in Mucolipin-1 (MCOLN1) and was diagnosed with mucolipidosis type IV.
|
31578829 |
2020 |
|
Mucolipidosis Type IV
|
0.800 |
Biomarker
|
disease |
BEFREE |
Greater insights into the role of mucolipin-1 in the nervous system can be expected to shed light not only on MLIV disease but also on numerous processes governing normal brain function.
|
29770442 |
2019 |
|
Mucolipidosis Type IV
|
0.800 |
Biomarker
|
disease |
BEFREE |
In the 5-6 months old Mcoln1-/- ovaries, histology revealed less defined corpus luteal cord formation, extensive luteal cell vacuolization and degeneration; immunofluorescence revealed disorganized staining of collagen IV, a basal lamina marker for endothelial cells; Nile Red staining detected lipid droplet accumulation, a typical phenotype of MLIV; immunofluorescence of heat shock protein 60 (HSP60, a mitochondrial marker) and in situ hybridization of steroidogenic acute regulatory protein (StAR, for the rate-limiting step of steroidogenesis) showed reduced expression of HSP60 and StAR, indicating impaired mitochondrial functions.
|
31317194 |
2019 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The lysosomal calcium channel TRPML1, whose mutations cause the lysosomal storage disorder (LSD) mucolipidosis type IV (MLIV), contributes to upregulate autophagic genes by inducing the nuclear translocation of the transcription factor EB (TFEB).
|
31822666 |
2019 |
|
Mucolipidosis Type IV
|
0.800 |
Biomarker
|
disease |
BEFREE |
Moreover, we will also discuss new potential therapeutic approaches for MLIV and LSDs based on the modulation of TRPML1-mediated signaling.
|
28689729 |
2018 |
|
Mucolipidosis Type IV
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Novel homozygous variants in ATCAY, MCOLN1, and SACS in complex neurological disorders.
|
29449188 |
2018 |
|
Mucolipidosis Type IV
|
0.800 |
Biomarker
|
disease |
BEFREE |
Using a full mucolipin-1 knockout mouse (Mcoln1<sup>-/-</sup>), we found that early miglustat treatment delays the onset and progression of motor deficits, delays cerebellar Purkinje cell loss, and reduces cerebellar microgliosis characteristic of MLIV disease.
|
28610891 |
2017 |
|
Mucolipidosis Type IV
|
0.800 |
Biomarker
|
disease |
BEFREE |
Importantly, our model revealed novel insights into the origins and progression of the MLIV pathology, including the contribution of autophagosome accumulation to muscle dystrophy and the role of mcoln1 in embryonic development, hair cell viability and cellular maintenance.
|
28449103 |
2017 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The MLIV-causing mutations disrupt the luminal-domain structure and cause TRPML1 mislocalization.
|
28112729 |
2017 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The MLIV-causing mutations disrupt the luminal-domain structure and cause TRPML1 mislocalization.
|
28112729 |
2017 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Here, we found that TRPML1 (ML1), a protein that is mutated in type IV mucolipidosis (ML-IV), is a tubulovesicular channel essential for TV exocytosis and acid secretion.
|
28486130 |
2017 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations of TRPML1 cause a severe lysosomal storage disorder called mucolipidosis type IV (MLIV).
|
28936784 |
2017 |
|
Mucolipidosis Type IV
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Mucolipidosis Type IV
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic heterogeneity in 26 infants with a hypomyelinating leukodystrophy.
|
26597493 |
2016 |
|
Mucolipidosis Type IV
|
0.800 |
Biomarker
|
disease |
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 |
|
Mucolipidosis Type IV
|
0.800 |
Biomarker
|
disease |
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 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel homozygous MCOLN1 double mutant allele leading to TRP channel domain ablation underlies Mucolipidosis IV in an Italian Child.
|
25156245 |
2015 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Mucolipidosis Type IV
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A practical approach to diagnosing adult onset leukodystrophies.
|
24357685 |
2014 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MCOLN1, the gene coding for TRPML1, cause the LSD (lysosomal storage disease) MLIV (mucolipidosis type IV).
|
24192042 |
2014 |
|
Mucolipidosis Type IV
|
0.800 |
Biomarker
|
disease |
BEFREE |
Overall, these findings suggest that TMEM163 and TRPML1 proteins play a critical role in cellular zinc homeostasis, and thus possibly explain a novel mechanism for the pathological overload of zinc in MLIV disease.
|
25130899 |
2014 |
|
Mucolipidosis Type IV
|
0.800 |
Biomarker
|
disease |
BEFREE |
We used lead optimization strategies to identify--and MLIV patient fibroblasts to test--small-molecule activators for their potential to restore TRPML1 mutant channel function.
|
25119295 |
2014 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
MCOLN1 (also known as TRPML1, ML1) is an endosomal and lysosomal Ca(2+) channel whose human mutations cause mucolipidosis IV (ML4), a neurodegenerative disease with motor disabilities.
|
25216637 |
2014 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV.
|
25119295 |
2014 |
|
Mucolipidosis Type IV
|
0.800 |
Biomarker
|
disease |
BEFREE |
To study the possible association of founder mutations in the lysosomal storage disorder genes HEXA, SMPD1, and MCOLN1 (causing Tay-Sachs, Niemann-Pick A, and mucolipidosis type IV diseases, respectively) with Parkinson disease (PD).
|
23535491 |
2013 |