Mucolipidosis III Gamma

Common Name(s)

Mucolipidosis III Gamma

Mucolipidosis type III gamma is an autosomal recessive disorder characterized clinically by short stature, skeletal abnormalities, cardiomegaly, and developmental delay. The disorder is caused by a defect in proper lysosomal enzyme phosphorylation and localization, which results in accumulation of lysosomal substrates (summary by {11:Raas-Rothschild et al., 2000}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucolipidosis III Gamma" 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 III Gamma" returned 4 free, full-text research articles on human participants. First 3 results:

Mucolipidosis III GNPTG Missense Mutations Cause Misfolding of the γ Subunit of GlcNAc-1-Phosphotransferase.
 

Author(s): Eline van Meel, Stuart Kornfeld

Journal: Hum. Mutat.. 2016 07;37(7):623-6.

 

The lysosomal storage disorder ML III γ is caused by defects in the γ subunit of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase, the enzyme that tags lysosomal enzymes with the mannose 6-phosphate lysosomal targeting signal. In patients with this disorder, ...

Last Updated: 31 Dec 1969

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Tuberous sclerosis, polycystic kidney disease and mucolipidosis III gamma caused by a microdeletion unmasking a recessive mutation.
 

Author(s): Jaime J Barea, Eline van Meel, Stuart Kornfeld, Lynne M Bird

Journal: Am. J. Med. Genet. A. 2015 Nov;167A(11):2844-6.

 

Last Updated: 31 Dec 1969

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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: 31 Dec 1969

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Reviews from the PubMed Database

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The terms "Mucolipidosis III Gamma" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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