Literature DB >> 24209442

Lysosomal storage disorders and iron.

Jose Miguel Bras1.   

Abstract

Lysosomal storage disorders are a group of about 50 rare metabolic diseases that result from defects in lysosomal function. The majority is recessively inherited and caused by mutations in genes encoding lysosomal proteins as the basis for its pathobiology. The lysosome plays a pivotal role in a cell's ability to recycle and degrade unwanted material. One of its functions relates to regulating iron levels throughout the body. Iron is a double-edged sword: It is absolutely required for an organism's survival, but high levels of iron quickly lead to cell death. In addition, recent results have put the lysosome on the map of pathways leading to common neurodegenerative diseases, such as Parkinson's disease and Alzheimer's disease. It is plausible that the mechanisms through which the lysosome acts in these diseases also involve iron and this would have significant implications in our understanding of the molecular etiology of these disorders.
© 2013 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Alzheimer's disease; Iron; Lysosomal storage disorders; Lysosome; Neuronal ceroid lipofuscinosis; Parkinson's disease

Mesh:

Substances:

Year:  2013        PMID: 24209442     DOI: 10.1016/B978-0-12-410502-7.00012-0

Source DB:  PubMed          Journal:  Int Rev Neurobiol        ISSN: 0074-7742            Impact factor:   3.230


  4 in total

1.  Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities.

Authors:  Diran Herebian; Bader Alhaddad; Annette Seibt; Thomas Schwarzmayr; Katharina Danhauser; Dirk Klee; Stefani Harmsen; Thomas Meitinger; Tim M Strom; Ansgar Schulz; Ertan Mayatepek; Tobias B Haack; Felix Distelmaier
Journal:  Eur J Hum Genet       Date:  2017-06-14       Impact factor: 4.246

2.  Susceptibility-Weighted Imaging Findings in Aspartylglucosaminuria.

Authors:  A Tokola; M Laine; R Tikkanen; T Autti
Journal:  AJNR Am J Neuroradiol       Date:  2019-10-24       Impact factor: 3.825

Review 3.  Iron and Neurodegeneration: Is Ferritinophagy the Link?

Authors:  Giorgio Biasiotto; Diego Di Lorenzo; Silvana Archetti; Isabella Zanella
Journal:  Mol Neurobiol       Date:  2015-10-14       Impact factor: 5.590

4.  Elevated iron concentration in putamen and cortical speech motor network in developmental stuttering.

Authors:  Gabriel J Cler; Saloni Krishnan; Daniel Papp; Charlotte E E Wiltshire; Jennifer Chesters; Kate E Watkins
Journal:  Brain       Date:  2021-11-29       Impact factor: 13.501

  4 in total

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