Condition: Mucolipidosis Type IV


rs104886461 in LOC105372261;MCOLN1 gene and Mucolipidosis Type IV PMID 11845410 2002 Carrier screening for mucolipidosis type IV in the American Ashkenazi Jewish population.

PMID 11317355 2001 Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

PMID 10973263 2000 Identification of the gene causing mucolipidosis type IV.

PMID 11013137 2000 Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV.

PMID 16287144 2005 The frequency of mucolipidosis type IV in the Ashkenazi Jewish population and the identification of 3 novel MCOLN1 mutations.

PMID 14749347 2004 Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.

PMID 16645217 2006 Rapid one-step carrier detection assay of mucolipidosis IV mutations in the Ashkenazi Jewish population.

PMID 19815695 2009 Development of genomic DNA reference materials for genetic testing of disorders common in people of ashkenazi jewish descent.

PMID 11030752 2000 Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

PMID 17384215 2007 Comprehensive arrayed primer extension array for the detection of 59 sequence variants in 15 conditions prevalent among the (Ashkenazi) Jewish population.

PMID 25119295 2014 A small molecule restores function to TRPML1 mutant isoforms responsible for mucolipidosis type IV.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 21763169 2011 Mucolipidosis type IV: an update.

PMID 12182165 2002 The neurogenetics of mucolipidosis type IV.

rs121908371 in MCOLN1 gene and Mucolipidosis Type IV PMID 21763169 2011 Mucolipidosis type IV: an update.

PMID 11317355 2001 Mucolipidosis type IV: novel MCOLN1 mutations in Jewish and non-Jewish patients and the frequency of the disease in the Ashkenazi Jewish population.

PMID 10973263 2000 Identification of the gene causing mucolipidosis type IV.

PMID 14749347 2004 Molecular pathophysiology of mucolipidosis type IV: pH dysregulation of the mucolipin-1 cation channel.

PMID 15178326 2004 Overexpression of wild-type and mutant mucolipin proteins in mammalian cells: effects on the late endocytic compartment organization.

PMID 12182165 2002 The neurogenetics of mucolipidosis type IV.

PMID 18794901 2008 The type IV mucolipidosis-associated protein TRPML1 is an endolysosomal iron release channel.

PMID 16978393 2006 Mucolipin-1 is a lysosomal membrane protein required for intracellular lactosylceramide traffic.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

PMID 17239335 2007 Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.

PMID 11030752 2000 Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 11013137 2000 Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV.

PMID 28112729 2017 Structural basis of dual Ca2+/pH regulation of the endolysosomal TRPML1 channel.

PMID 22268962 2012 Role of protein kinase d in Golgi exit and lysosomal targeting of the transmembrane protein, Mcoln1.

PMID 15523648 2004 Transfer of a mitochondrial DNA fragment to MCOLN1 causes an inherited case of mucolipidosis IV.

PMID 21256127 2011 The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain.

PMID 14749347 2004 The V446L and DeltaF408 MLIV causing mutations retain channel function but not the sharp inhibition by lowering pH.

PMID 15178326 2004 F408del and F465L MLIV mutant proteins show a distribution similar to the wild-type protein, whereas T232P is retained in the endoplasmic reticulum.

rs121908373 in MCOLN1;LOC105372261 gene and Mucolipidosis Type IV PMID 11030752 2000 Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel.

PMID 12182165 2002 The neurogenetics of mucolipidosis type IV.

PMID 19888064 2009 ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.

PMID 18197057 2008 Carrier screening in individuals of Ashkenazi Jewish descent.

rs1555742780 in PNPLA6;MCOLN1 gene and Mucolipidosis Type IV PMID 18326692 2008 Isolated ocular disease is associated with decreased mucolipin-1 channel conductance.

PMID 17239335 2007 Mucolipidosis IV: report of a case with ocular restricted phenotype caused by leaky splice mutation.