|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Role of protein kinase d in Golgi exit and lysosomal targeting of the transmembrane protein, Mcoln1.
|
22268962 |
2012 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
Haplotype analysis in the MLIV gene region of over 70 MLIV Ashkenazi chromosomes indicated the existence of two founder chromosomes among 95% of the Ashkenazi MLIV families: a major haplotype in 72% and a minor haplotype in 23% of the MLIV chromosomes (ref.7, and G.B., unpublished data).
|
10973263 |
2000 |
|
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 |
GeneticVariation
|
disease |
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 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in MCOLN1 (mucolipin 1) have been linked to mucolipidosis type IV, a recessive lysosomal storage disease characterized by severe neurological and ophthalmologic abnormalities.
|
17988215 |
2008 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the MCOLN1 gene cause mucolipidosis type IV (MLIV), a severely debilitating, autosomal recessive, lysosomal storage disorder.
|
11845410 |
2002 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mucolipidosis IV is caused by mutations in MCOLN1, a gene encoding mucolipin-1 which is responsible for maintaining lysosomal function.
|
19006653 |
2009 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations.
|
16287144 |
2005 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.
|
17239335 |
2007 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mucolipidosis type IV (MLIV) is a lysosomal storage disorder caused by mutations in the MCOLN1 gene, a member of the transient receptor potential (TRP) cation channel gene family.
|
19117012 |
2009 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain.
|
21256127 |
2011 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mucolipidosis type IV (MLIV) is an autosomal recessive disease caused by mutations in the MCOLN1 gene that codes for mucolipin, a member of the transient receptor potential (TRP) gene family.
|
12182165 |
2002 |
|
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 |
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 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mucolipidosis type IV: an update.
|
21763169 |
2011 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two mutations in the MCOLN1 mucolipidosis IV (ML IV) gene represent approximately 95% of the mutations in Ashkenazi-Jewish patients with ML IV.
|
16645217 |
2006 |
|
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 |
UNIPROT |
Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.
|
15523648 |
2004 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.
|
11317355 |
2001 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
We have shown that aberrant lactosylceramide trafficking in MLIV cells may be rescued by wild-type mucolipin-1 expression but not by mucolipin-1 mistargeted to the plasma membrane or by lysosome-localized mucolipin-1 mutated in its predicted ion pore-selectivity region.
|
16978393 |
2006 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
CLINVAR |
The data indicate that ML1 channel activity is regulated by a pH-dependent mechanism that is deficient in some MLIV causing mutations of the gene.
|
14749347 |
2004 |
|
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 |
To date 14 independent mutations have been reported in MCOLN1, with two mutations accounting for 95% of the Ashkenazi Jewish MLIV alleles.
|
12125810 |
2002 |
|
Mucolipidosis Type IV
|
0.800 |
GeneticVariation
|
disease |
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 |