Journal article
Clarifying lysosomal storage diseases
Trends in neurosciences (Regular ed.), Vol.34(8), pp.401-410
08/01/2011
DOI: 10.1016/j.tins.2011.05.006
PMCID: PMC3153126
PMID: 21723623
Abstract
Lysosomal storage diseases (LSDs) are a class of metabolic disorders caused by mutations in proteins critical for lysosomal function. Such proteins include lysosomal enzymes, lysosomal integral membrane proteins, and proteins involved in the post-translational modification and trafficking of lysosomal proteins. There are many recognized forms of LSDs and, although individually rare, their combined prevalence is estimated to be 1 in 8000 births. Over two-thirds of LSDs involve central nervous system (CNS) dysfunction (progressive cognitive and motor decline) and these symptoms are often the most debilitating. Although the genetic basis for these disorders is clear and the biochemistry of the proteins well understood, the cellular mechanisms by which deficiencies in these proteins disrupt neuronal viability remain ambiguous. In this review, we provide an overview of the widespread cellular perturbations occurring in LSDs, how they might be linked and interventions that may specifically or globally correct those defects.
Details
- Title: Subtitle
- Clarifying lysosomal storage diseases
- Creators
- Mark L. Schultz - Univ Iowa, Dept Internal Med, Iowa City, IA 52242 USALuis Tecedor - University of IowaMichael Chang - University of IowaBeverly L. Davidson - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Trends in neurosciences (Regular ed.), Vol.34(8), pp.401-410
- DOI
- 10.1016/j.tins.2011.05.006
- PMID
- 21723623
- PMCID
- PMC3153126
- NLM abbreviation
- Trends Neurosci
- ISSN
- 0166-2236
- eISSN
- 1878-108X
- Publisher
- Elsevier
- Number of pages
- 10
- Grant note
- Roy J Carver Trust R01NS034568 / NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Neurological Disorders & Stroke (NINDS) National Institutes of Health; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA R01HD033531 / EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH &HUMAN DEVELOPMENT; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD) T32GM007337 / NATIONAL INSTITUTE OF GENERAL MEDICAL SCIENCES; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of General Medical Sciences (NIGMS)
- Language
- English
- Date published
- 08/01/2011
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Medical Genetics and Genomics
- Record Identifier
- 9984366380102771
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