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Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases

Jakóbkiewicz-Banecka, Joanna and Gabig-Cimińska, Magdalena and Banecka-Majkutewicz, Zyta and Banecki, Bogdan and Węgrzyn, Alicja and Węgrzyn, Grzegorz (2013) Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases. Metabolic Brain Disease, 29 . pp. 1-8.

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Lysosomal storage diseases are inherited metabolic disorders caused by genetic defects causing deficiency of various lysosomal proteins, and resultant accumulation of non-degraded compounds. They are multisystemic diseases, and in most of them (>70 %) severe brain dysfunctions are evident. However, expression of various phenotypes in particular diseases is extremely variable, from non-neuronopathic to severely neurodegenerative in the deficiency of the same enzyme. Although all lysosomal storage diseases are monogenic, clear genotype-phenotype correlations occur only in some cases. In this article, we present an overview on various factors and processes, both general and specific for certain disorders, that can significantly modulate expression of phenotypes in these diseases. On the basis of recent reports describing studies on both animal models and clinical data, we propose a hypothesis that efficiency of production of compounds that cannot be degraded due to enzyme deficiency might be especially important in modulation of phenotypes of patients suffering from lysosomal storage diseases.

Item Type:Article
Subjects:Q Science > Q Science (General)
R Medicine > R Medicine (General)
R Medicine > RM Therapeutics. Pharmacology
Divisions:Laboratory of Molecular Biology (in Gdansk)
ID Code:1124
Deposited By: Prof. Magdalena Gabig-Cimińska
Deposited On:25 Jan 2016 08:03
Last Modified:25 Jan 2016 08:03

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