Mucolipidosis type 1

Common Name(s)

Mucolipidosis type 1

Description for this condition is not yet available.
 

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Condition Specific Organizations

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucolipidosis type 1" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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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 type 1" returned 4 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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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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Compensatory expression of human N-acetylglucosaminyl-1-phosphotransferase subunits in mucolipidosis type III gamma.
 

Author(s): Sandra Pohl, Stephan Tiede, Monica Castrichini, Michael Cantz, Volkmar Gieselmann, Thomas Braulke

Journal: Biochim. Biophys. Acta. 2009 Mar;1792(3):221-5.

 

The N-Acetylglucosaminyl-1-phosphotransferase plays a key role in the generation of mannose 6-phosphate (M6P) recognition markersessential for efficient transport of lysosomal hydrolases to lysosomes. The phosphotransferase is composed of six subunits (alpha2, beta2, gamma2). The ...

Last Updated: 26 Aug 2009

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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 type 1" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Longitudinal Studies of the Glycoproteinoses
 

Status: Recruiting

Condition Summary: Aspartylglucosaminuria; Fucosidosis; Galactosialidosis; Alpha Mannosidosis; Beta Mannosidosis; Mucolipidosis II; Mucolipidosis III; Schindler Disease; Sialidosis

 

Last Updated: 9 Sep 2014

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The Natural History of Mucolipidosis Type IV
 

Status: Recruiting

Condition Summary: Mucolipidosis Type IV

 

Last Updated: 12 Aug 2014

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