Literature DB >> 25937302

The neuronal ceroid lipofuscinoses: Opportunities from model systems.

Kiterie M E Faller1, Rodrigo Gutierrez-Quintana1, Alamin Mohammed2, Ahad A Rahim3, Richard I Tuxworth2, Kim Wager4, Michael Bond5.   

Abstract

The neuronal ceroid lipofuscinoses are a group of severe and progressive neurodegenerative disorders, generally with childhood onset. Despite the fact that these diseases remain fatal, significant breakthroughs have been made in our understanding of the genetics that underpin these conditions. This understanding has allowed the development of a broad range of models to study disease processes, and to develop new therapeutic approaches. Such models have contributed significantly to our knowledge of these conditions. In this review we will focus on the advantages of each individual model, describe some of the contributions the models have made to our understanding of the broader disease biology and highlight new techniques and approaches relevant to the study and potential treatment of the neuronal ceroid lipofuscinoses. This article is part of a Special Issue entitled: "Current Research on the Neuronal Ceroid Lipofuscinoses (Batten Disease)".
Copyright © 2015 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Model systems; NCL; Neurodegeneration; Neuronal ceroid lipofuscinosis

Year:  2015        PMID: 25937302     DOI: 10.1016/j.bbadis.2015.04.022

Source DB:  PubMed          Journal:  Biochim Biophys Acta        ISSN: 0006-3002


  16 in total

1.  Seizures in PPT1 Knock-In Mice Are Associated with Inflammatory Activation of Microglia.

Authors:  Xusheng Zhang; Mengting Wang; Bingyan Feng; Qiuyu Zhang; Jia Tong; Mingyong Wang; Chengbiao Lu; Shiyong Peng
Journal:  Int J Mol Sci       Date:  2022-05-17       Impact factor: 6.208

Review 2.  Recent Insight into the Genetic Basis, Clinical Features, and Diagnostic Methods for Neuronal Ceroid Lipofuscinosis.

Authors:  Konrad Kaminiów; Sylwia Kozak; Justyna Paprocka
Journal:  Int J Mol Sci       Date:  2022-05-20       Impact factor: 6.208

3.  Lysosomal Proteomics Links Disturbances in Lipid Homeostasis and Sphingolipid Metabolism to CLN5 Disease.

Authors:  Stefano Doccini; Maria Marchese; Federica Morani; Nicola Gammaldi; Serena Mero; Francesco Pezzini; Rabah Soliymani; Melissa Santi; Giovanni Signore; Asahi Ogi; Silvia Rocchiccioli; Katja M Kanninen; Alessandro Simonati; Maciej M Lalowski; Filippo M Santorelli
Journal:  Cells       Date:  2022-06-04       Impact factor: 7.666

4.  Neuronal genetic rescue normalizes brain network dynamics in a lysosomal storage disorder despite persistent storage accumulation.

Authors:  Rebecca C Ahrens-Nicklas; Luis Tecedor; Arron F Hall; Owen Kane; Richard J Chung; Elena Lysenko; Eric D Marsh; Colleen S Stein; Beverly L Davidson
Journal:  Mol Ther       Date:  2022-04-05       Impact factor: 12.910

Review 5.  Canine neuronal ceroid lipofuscinoses: Promising models for preclinical testing of therapeutic interventions.

Authors:  Martin L Katz; Eline Rustad; Grace O Robinson; Rebecca E H Whiting; Jeffrey T Student; Joan R Coates; Kristina Narfstrom
Journal:  Neurobiol Dis       Date:  2017-08-30       Impact factor: 5.996

6.  Aberrant adhesion impacts early development in a Dictyostelium model for juvenile neuronal ceroid lipofuscinosis.

Authors:  Robert J Huber; Michael A Myre; Susan L Cotman
Journal:  Cell Adh Migr       Date:  2016-09-26       Impact factor: 3.405

Review 7.  Progress in the Development of Small Molecule Therapeutics for the Treatment of Neuronal Ceroid Lipofuscinoses (NCLs).

Authors:  Nihar Kinarivala; Paul C Trippier
Journal:  J Med Chem       Date:  2015-11-24       Impact factor: 7.446

Review 8.  Neuronal Ceroid Lipofuscinosis: Potential for Targeted Therapy.

Authors:  Nicola Specchio; Alessandro Ferretti; Marina Trivisano; Nicola Pietrafusa; Chiara Pepi; Costanza Calabrese; Susanna Livadiotti; Alessandra Simonetti; Paolo Rossi; Paolo Curatolo; Federico Vigevano
Journal:  Drugs       Date:  2021-01       Impact factor: 9.546

9.  Advances in the Treatment of Neuronal Ceroid Lipofuscinosis.

Authors:  Jonathan B Rosenberg; Alvin Chen; Stephen M Kaminsky; Ronald G Crystal; Dolan Sondhi
Journal:  Expert Opin Orphan Drugs       Date:  2019-11-27       Impact factor: 0.694

10.  CLN3, at the crossroads of endocytic trafficking.

Authors:  Susan L Cotman; Stéphane Lefrancois
Journal:  Neurosci Lett       Date:  2021-07-16       Impact factor: 3.197

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