Lysosomal storage disorders: The cellular impact of lysosomal dysfunction
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منابع مشابه
Lysosomal storage disorders: The cellular impact of lysosomal dysfunction
Lysosomal storage diseases (LSDs) are a family of disorders that result from inherited gene mutations that perturb lysosomal homeostasis. LSDs mainly stem from deficiencies in lysosomal enzymes, but also in some non-enzymatic lysosomal proteins, which lead to abnormal storage of macromolecular substrates. Valuable insights into lysosome functions have emerged from research into these diseases. ...
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Correspondence to Frances M. Platt: [email protected]; Barry Boland: [email protected]; or Aarnoud C. van der Spoel: [email protected] Abbreviations used in this paper: CNS, central nervous system; LSD, lysosomal storage disease; NPC, Niemann-Pick type C. Lysosomal storage disorders: A brief overview Inborn errors of metabolism are a common cause of inherited disease (Burton, 1998), of...
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Lysosomal storage diseases (LSDs) describe a heterogeneous group of rare inherited metabolic disorders that result from the absence or loss of function of lysosomal hydrolases or transporters, resulting in the progressive accumulation of undigested material in lysosomes. The accumulation of substances affects the function of lysosomes and other organelles, resulting in secondary alterations suc...
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BACKGROUND Lysosomal storage disorders are a group of genetic diseases, each with a broad spectrum of clinical presentation that ranges from attenuated to severe. The immunochemical analysis of patient samples is aimed at several key aspects of patient management, including early detection of the disorder, prediction of clinical severity, determining the most appropriate therapeutic regimen, an...
متن کاملPrevalence of lysosomal storage disorders.
CONTEXT Lysosomal storage disorders represent a group of at least 41 genetically distinct, biochemically related, inherited diseases. Individually, these disorders are considered rare, although high prevalence values have been reported in some populations. These disorders are devastating for individuals and their families and result in considerable use of resources from health care systems; how...
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ژورنال
عنوان ژورنال: Journal of Cell Biology
سال: 2012
ISSN: 1540-8140,0021-9525
DOI: 10.1083/jcb.201208152