Mucolipidosis III

Common Name(s)

Mucolipidosis III

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

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

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National MPS Society

The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.

Last Updated: 22 Oct 2012

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The International Society for Mannosidosis and Related Diseases

ISMRD is the leading advocate for families worldwide affected by a Glycoprotein & Related Storage Disease. Through partnerships built with medicine, science and industry, we seek to detect and cure these diseases and to enable a network of support and information.

Last Updated: 11 Dec 2012

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General Support Organizations

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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 III" for support, advocacy or research.

Logo
National MPS Society

The National MPS Society exists to find cures for MPS and related diseases. We provide hope and support for affected individuals and their families through research, advocacy and awareness of these devastating diseases.

http://www.mpssociety.org

Last Updated: 22 Oct 2012

View Details
The International Society for Mannosidosis and Related Diseases

ISMRD is the leading advocate for families worldwide affected by a Glycoprotein & Related Storage Disease. Through partnerships built with medicine, science and industry, we seek to detect and cure these diseases and to enable a network of support and information.

http://www.ismrd.org

Last Updated: 11 Dec 2012

View Details

 

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 III" returned 24 free, full-text research articles on human participants. First 3 results:

Cardiac MRI findings in mucolipidosis III.
 

Author(s): Amjad Abualsuod, Yalcin Hacioglu, Srikanth Vallurupalli, Abhishek Deshmukh, Hakan Paydak

Journal: Acta Cardiol. 2014 Oct;69(5):564-5.

 

Last Updated: 2 Feb 2015

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Analysis of mucolipidosis II/III GNPTAB missense mutations identifies domains of UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase involved in catalytic function and lysosomal enzyme recognition.
 

Author(s): Yi Qian, Eline van Meel, Heather Flanagan-Steet, Alex Yox, Richard Steet, Stuart Kornfeld

Journal: J. Biol. Chem.. 2015 Jan;290(5):3045-56.

 

UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase tags newly synthesized lysosomal enzymes with mannose 6-phosphate recognition markers, which are required for their targeting to the endolysosomal system. GNPTAB encodes the α and β subunits of GlcNAc-1-phosphotransferase, ...

Last Updated: 30 Jan 2015

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Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ.
 

Author(s): Eline van Meel, Yi Qian, Stuart A Kornfeld

Journal: Proc. Natl. Acad. Sci. U.S.A.. 2014 Mar;111(9):3532-7.

 

The lysosomal storage disorder mucolipidosis III αβ is caused by mutations in the αβ subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (phosphotransferase). This Golgi-localized enzyme mediates the first step in the synthesis of the mannose 6-phosphate ...

Last Updated: 5 Mar 2014

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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 III" returned 1 free, full-text review articles on human participants. First 3 results:

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.
 

Author(s): Thomas Dierks, Lars Schlotawa, Marc-André Frese, Karthikeyan Radhakrishnan, Kurt von Figura, Bernhard Schmidt

Journal: Biochim. Biophys. Acta. 2009 Apr;1793(4):710-25.

 

Multiple sulfatase deficiency (MSD), mucolipidosis (ML) II/III and Niemann-Pick type C1 (NPC1) disease are rare but fatal lysosomal storage disorders caused by the genetic defect of non-lysosomal proteins. The NPC1 protein mainly localizes to late endosomes and is essential for cholesterol ...

Last Updated: 30 Mar 2009

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

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

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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Biomarker for Mucolipidosis Disorder Type I, II, III or IV
 

Status: Recruiting

Condition Summary: Mucolipidosis Type I; Mucolipidosis Type II; Mucolipidosis Type III; Mucolipidosis Type IV; Mucolipidosis

 

Last Updated: 13 Jan 2016

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Biomarker for Glycogen Storage Diseases
 

Status: Recruiting

Condition Summary: Fructose Metabolism, Inborn Errors; Glycogen Storage Disease; Glycogen Storage Disease Type I; Glycogen Storage Disease Type II; Glycogen Storage Disease Type III; Glycogen Storage Disease Type IV; Glycogen Storage Disease Type V; Glycogen Storage Disease Type VI; Glycogen Storage Disease Type VII; Glycogen Storage Disease Type VIII

 

Last Updated: 13 Jan 2016

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