Lysosomal Storage Disorders Shed Light on Lysosomal Dysfunction in Parkinson’s Disease

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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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ژورنال

عنوان ژورنال: International Journal of Molecular Sciences

سال: 2020

ISSN: 1422-0067

DOI: 10.3390/ijms21144966