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Pharmacological approaches to tackle NCLs.

Authors
  • Kauss, Valerjans1
  • Dambrova, Maija1
  • Medina, Diego Luis2
  • 1 Latvian Institute of Organic Synthesis, Aizkraukles 21, Riga LV-1006, Latvia; Riga Stradins University, Dzirciema 16, Riga LV-1007, Latvia. , (Latvia)
  • 2 Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Naples, Italy; Medical Genetics Unit, Department of Medical and Translational Science, Federico II University, Naples, Italy. Electronic address: [email protected] , (Italy)
Type
Published Article
Journal
Biochimica et biophysica acta. Molecular basis of disease
Publication Date
Sep 01, 2020
Volume
1866
Issue
9
Pages
165553–165553
Identifiers
DOI: 10.1016/j.bbadis.2019.165553
PMID: 31521819
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

Neuronal ceroid lipofuscinoses, also collectively known as Batten disease, are a group of rare monogenic disorders caused by mutations in at least 13 different genes. They are characterized by the accumulation of lysosomal storage material and progressive neurological deterioration with dementia, epilepsy, retinopathy, motor disturbances, and early death [1]. Although the identification of disease-causing genes provides an important step for understanding the molecular mechanisms underlying neuronal ceroid lipofuscinoses, compared to other diseases, obstacles to the development of therapies for these rare diseases include less extensive physiopathology knowledge, limited number of patients to test treatments, and poor commercial interest from the industry. Current therapeutic strategies include enzyme replacement therapies, gene therapies targeting the brain and the eye, cell therapies, and pharmacological drugs that could modulate defective molecular pathways. In this review, we will focus in the emerging therapies based in the identification of small-molecules. Recent advances in high- throughput and high-content screening (HTS and HCS) using relevant cell-based assays and applying automation and imaging analysis algorithms, will allow the screening of a large number of compounds in lesser time. These approaches are particularly useful for drug repurposing for Batten disease, that takes the advantage to search for compounds that have already been tested in humans, thereby reducing significantly the resources needed for translation to clinics. Copyright © 2019. Published by Elsevier B.V.

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