Literature DB >> 31207290

Applying modern Omic technologies to the Neuronal Ceroid Lipofuscinoses.

Rachel A Kline1, Thomas M Wishart1, Kevin Mills2, Wendy E Heywood3.   

Abstract

The Neuronal Ceroid Lipofuscinoses are a group of severe and progressive neurodegenerative disorders, which generally present during childhood. With new treatments emerging on the horizon, there is a growing need to understand the specific disease mechanisms as well as identify prospective biomarkers for use to stratify patients and monitor treatment. The use of Omics technologies to NCLs has the potential to address this need. We discuss the recent use and outcomes of Omics to various forms of NCL including identification of interactomes, affected biological pathways and potential biomarker candidates. We also identify common pathways affected in NCL across the reviewed studies.
Copyright © 2019 Elsevier B.V. All rights reserved.

Entities:  

Keywords:  Batten disease; CLN1–14; Metabolomics; Neuronal Ceroid Lipofuscinoses; Proteomics

Mesh:

Substances:

Year:  2019        PMID: 31207290     DOI: 10.1016/j.bbadis.2019.06.012

Source DB:  PubMed          Journal:  Biochim Biophys Acta Mol Basis Dis        ISSN: 0925-4439            Impact factor:   5.187


  7 in total

1.  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

2.  Expanding the Neuroimaging Phenotype of Neuronal Ceroid Lipofuscinoses.

Authors:  A Biswas; P Krishnan; A Amirabadi; S Blaser; S Mercimek-Andrews; M Shroff
Journal:  AJNR Am J Neuroradiol       Date:  2020-08-27       Impact factor: 3.825

Review 3.  Molecular networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum.

Authors:  Robert J Huber
Journal:  J Biomed Sci       Date:  2020-05-20       Impact factor: 8.410

4.  Revealing the clinical phenotype of atypical neuronal ceroid lipofuscinosis type 2 disease: Insights from the largest cohort in the world.

Authors:  Charles M Lourenço; Andre Pessoa; Carmen C Mendes; Carolina Rivera-Nieto; Diane Vergara; Mónica Troncoso; Emily Gardner; Francisca Mallorens; Lina Tavera; Luis A Lizcano; Nora Atanacio; Norberto Guelbert; Norma Specola; Nury Mancilla; Carolina F M de Souza; Sara E Mole
Journal:  J Paediatr Child Health       Date:  2020-12-30       Impact factor: 1.954

Review 5.  Neuronal Ceroid Lipofuscinosis: The Multifaceted Approach to the Clinical Issues, an Overview.

Authors:  Alessandro Simonati; Ruth E Williams
Journal:  Front Neurol       Date:  2022-03-11       Impact factor: 4.003

Review 6.  An Optimized Comparative Proteomic Approach as a Tool in Neurodegenerative Disease Research.

Authors:  Rachel A Kline; Lena Lößlein; Dominic Kurian; Judit Aguilar Martí; Samantha L Eaton; Felipe A Court; Thomas H Gillingwater; Thomas M Wishart
Journal:  Cells       Date:  2022-08-26       Impact factor: 7.666

7.  Temporal Profiling of the Cortical Synaptic Mitochondrial Proteome Identifies Ageing Associated Regulators of Stability.

Authors:  Laura C Graham; Rachel A Kline; Douglas J Lamont; Thomas H Gillingwater; Neil A Mabbott; Paul A Skehel; Thomas M Wishart
Journal:  Cells       Date:  2021-12-02       Impact factor: 6.600

  7 in total

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