ReviewMetabolic brain disease2014
Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases.
Review in Metabolic brain disease, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 22 citations in OpenAlex.
- Cellular Organelle-Related Transcriptomic Profile Abnormalities in Neuronopathic Types of Mucopolysaccharidosis: A Comparison with Other Neurodegenerative Diseases.Current issues in molecular biology · 2024Article
- Polymer-based drug delivery systems under investigation for enzyme replacement and other therapies of lysosomal storage disorders.Advanced drug delivery reviews · 2023Review
- Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies.Metabolic brain disease · 2022Article
- Glycosphingolipids.Advances in experimental medicine and biology · 2021Article
- Pathogenesis of Mucopolysaccharidoses, an Update.International journal of molecular sciences · 2020Review
- Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease.Oncotarget · 2017Article
- Modulation of expression of genes involved in glycosaminoglycan metabolism and lysosome biogenesis by flavonoids.Scientific reports · 2015Article
- Metabolomic discovery of novel urinary galabiosylceramide analogs as Fabry disease biomarkers.Journal of the American Society for Mass Spectrometry · 2015Article
- High variability of Fabry disease manifestations in an extended Italian family.BioMed research international · 2015Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
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.
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