Determining the mechanism of pathogenesis of mucolipidosis type IV and related lysosomal storage disorders for development of novel therapies

Determining the mechanism of pathogenesis of mucolipidosis type IV and related lysosomal storage disorders for development of novel therapies

<p>Mucolipidosis type IV (MLIV) is a rare, autosomal recessive, neurodegenerative, lysosomal storage disorder. MLIV is caused by mutations in a gene (<em>MCOLN1</em>) encoding a TRP channel family member known as Mucolipin 1 or TRPML1. TRPML1 is a lysosomal transmembrane protein th...

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Bibliografiske detaljer
Hovedforfatter:	Peterneva, K
Andre forfattere:	Platt, FM
Format:	Thesis
Sprog:	English
Udgivet:	2014
Fag:	Cell Biology (see also Plant sciences) Glycobiology Biochemistry

Lignende værker

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Structural biology of IgG Fc glycoforms
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The mechanism of Nov (CCN3) function in haematopoiesis
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A Bayesian approach to the evolution of metabolic networks on a phylogeny
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Functional analysis of cancer/testis antigens in human cancer
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