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NCLs and ER: A stressful relationship.
Davide Marotta1, Elisa Tinelli2, Sara E Mole3
1MRC Laboratory for Molecular Cell Biology, University College London, Gower Street, London WC1E 6BT, United Kingdom; The Institute of Cancer Research, 15 Cotswold Road, London SM2 5NG, United Kingdom.
Biochimica Et Biophysica Acta. Molecular Basis of Disease
|April 10, 2017
Summary
Neuronal Ceroid Lipofuscinoses (NCLs), or Batten disease, involve lysosomal storage. This review explores the link between endoplasmic reticulum (ER) stress, the unfolded protein response (UPR), and NCLs pathogenesis.
Area of Science:
- Neurodegenerative Disorders
- Cellular Biology
- Lysosomal Storage Diseases
Background:
- Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, are inherited neurodegenerative disorders.
- These conditions are characterized by the accumulation of autofluorescent ceroid lipopigments within lysosomes.
- The endoplasmic reticulum (ER) is vital for cellular function, and its homeostasis is crucial.
Purpose of the Study:
- To review the evidence linking ER stress and the unfolded protein response (UPR) to NCLs.
- To explore the role of ER stress in the pathogenesis of NCLs.
- To highlight potential therapeutic targets within these pathways.
Main Methods:
- Literature review focusing on ER stress and UPR in NCLs.
- Analysis of existing research on molecular mechanisms.
- Synthesis of findings related to disease pathogenesis.
Main Results:
- Evidence suggests activation of the UPR in NCLs.
- ER stress and UPR are implicated in the accumulation of misfolded proteins.
- These cellular responses are connected to the progression of NCLs.
Conclusions:
- ER stress and UPR activation are significant factors in NCL pathogenesis.
- Understanding these pathways may lead to new therapeutic strategies for Batten disease.
- Targeting ER homeostasis could offer novel treatment avenues.