Mucolipidosis

Common Name(s)

Mucolipidosis

Description for this condition is not yet available.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mucolipidosis" 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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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" 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

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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" returned 85 free, full-text research articles on human participants. First 3 results:

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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New targets for old diseases: lessons from mucolipidosis type II.
 

Author(s): Carmine Settembre, Andrea Ballabio

Journal: EMBO Mol Med. 2013 Dec;5(12):1801-3.

 

Last Updated: 2 Dec 2013

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Mucolipidosis and progressive myoclonus epilepsy: a distinctive phenotype.
 

Author(s): Ramshekhar N Menon, Sujith Jagtap, Ravindra Thakkar, Gayathri Narayanappa, Muralidharan Nair

Journal: Neurol India. ;61(5):537-9.

 

Last Updated: 22 Nov 2013

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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" returned 2 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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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 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

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: 19 Nov 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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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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