Mucolipidosis IV

Common Name(s)

Mucolipidosis IV

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucolipidosis IV" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

Last Updated: 26 Dec 2012

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucolipidosis IV" for support, advocacy or research.

Center for Jewish Genetics

The Center is dedicated to gathering and disseminating knowledge about Jewish genetic disorders and hereditary cancers. Its mission is to educate and serve health care professionals, clergy and the Jewish community.

http://www.jewishgenetics.org

Last Updated: 26 Dec 2012

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Mucolipidosis IV" returned 26 free, full-text research articles on human participants. First 3 results:

Characterization and expression analysis of mcoln1.1 and mcoln1.2, the putative zebrafish co-orthologs of the gene responsible for human mucolipidosis type IV.
 

Author(s): Anna Benini, Andrea Bozzato, Silvia Mantovanelli, Laura Calvarini, Edoardo Giacopuzzi, Roberto Bresciani, Silvia Moleri, Daniela Zizioli, Monica Beltrame, Giuseppe Borsani

Journal: Int. J. Dev. Biol.. 2013 ;57(1):85-93.

 

Mucolipidosis type IV (MLIV) is an autosomal recessive lysosomal storage disorder caused by mutations in the MCOLN1 gene coding for mucolipin-1 (TRPML1). TRPML1 belongs to a transient receptor potential channels (TRP) subfamily, which in mammals includes two other members: mucolipin-2 ...

Last Updated: 15 Apr 2013

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Systematic screens for proteins that interact with the mucolipidosis type IV protein TRPML1.
 

Author(s): Ellen Spooner, Brooke M McLaughlin, Talya Lepow, Tyler A Durns, Justin Randall, Cameron Upchurch, Katherine Miller, Erin M Campbell, Hanna Fares

Journal: PLoS ONE. 2013 ;8(2):e56780.

 

Mucolipidosis type IV is a lysosomal storage disorder resulting from mutations in the MCOLN1 gene, which encodes the endosomal/lysosomal Transient Receptor Potential channel protein mucolipin-1/TRPML1. Cells isolated from Mucolipidosis type IV patients and grown in vitro and in in ...

Last Updated: 18 Feb 2013

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LAPTMs regulate lysosomal function and interact with mucolipin 1: new clues for understanding mucolipidosis type IV.
 

Author(s): Silvia Vergarajauregui, Jose A Martina, Rosa Puertollano

Journal: J. Cell. Sci.. 2011 Feb;124(Pt 3):459-68.

 

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. MCOLN1 is a lysosomal ion channel that belongs to the transient receptor potential (TRP) superfamily. ...

Last Updated: 18 Jan 2011

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Mucolipidosis IV" returned 1 free, full-text review articles on human participants. First 3 results:

Mucolipidosis type IV: an update.
 

Author(s): Kazuyo Wakabayashi, Ann Marie Gustafson, Ellen Sidransky, Ehud Goldin

Journal: Mol. Genet. Metab.. 2011 Nov;104(3):206-13.

 

Mucolipidosis type IV (MLIV) is a neurodevelopmental as well as neurodegenerative disorder with severe psychomotor developmental delay, progressive visual impairment, and achlorydria. It is characterized by the presence of lysosomal inclusions in many cell types in patients. MLIV ...

Last Updated: 31 Oct 2011

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Natural History of Mucolipidosis Type IV
 

Status: Recruiting

Condition Summary: Mucolipidosis Type IV

 

Last Updated: 12 Aug 2014

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