Literature DB >> 31926264

Future perspectives: What lies ahead for Neuronal Ceroid Lipofuscinosis research?

Jonathan D Cooper1, Sara E Mole2.   

Abstract

Progress is being made in all aspects of Neuronal Ceroid Lipofuscinosis (NCL) research, resulting in many recent advances. These advances encompass several areas that were previously thought intractable, ranging from basic science, through to a better understanding of the clinical presentation of different forms of NCL, therapeutic development, and new clinical trials that are underway. Increasing numbers of original NCL research papers continue to be published, and this new sense of momentum is greatly encouraging for the field. Here, we make some predictions as to what we can anticipate in the next few years.
Copyright © 2020. Published by Elsevier B.V.

Entities:  

Keywords:  Batten disease; Future perspectives; International congress; Neuronal Ceroid Lipofuscinoses

Mesh:

Year:  2020        PMID: 31926264     DOI: 10.1016/j.bbadis.2020.165681

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


  6 in total

1.  Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity.

Authors:  Willemijn F E Kuper; Marlies Oostendorp; Brigitte T A van den Broek; Karin van Veghel; Lourens J P Nonkes; Edward E S Nieuwenhuis; Sabine A Fuchs; Tineke Veenendaal; Judith Klumperman; Albert Huisman; Stefan Nierkens; Peter M van Hasselt
Journal:  JIMD Rep       Date:  2020-06-02

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.  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

4.  Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.

Authors:  Irene Lopez-Fabuel; Marina Garcia-Macia; Costantina Buondelmonte; Olga Burmistrova; Nicolo Bonora; Paula Alonso-Batan; Brenda Morant-Ferrando; Carlos Vicente-Gutierrez; Daniel Jimenez-Blasco; Ruben Quintana-Cabrera; Emilio Fernandez; Jordi Llop; Pedro Ramos-Cabrer; Aseel Sharaireh; Marta Guevara-Ferrer; Lorna Fitzpatrick; Christopher D Thompton; Tristan R McKay; Stephan Storch; Diego L Medina; Sara E Mole; Peter O Fedichev; Angeles Almeida; Juan P Bolaños
Journal:  Nat Commun       Date:  2022-01-27       Impact factor: 17.694

5.  Pacemaker Implantation in Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)-A Long-Term Follow-Up Study.

Authors:  Mette Møller Handrup; Henning Mølgaard; Brian N Andersen; John R Ostergaard
Journal:  Front Neurol       Date:  2022-03-10       Impact factor: 4.003

6.  Tripeptidyl Peptidase 1 (TPP1) Deficiency in a 36-Year-Old Patient with Cerebellar-Extrapyramidal Syndrome and Dilated Cardiomyopathy.

Authors:  Agnieszka Ługowska; Joanna K Purzycka-Olewiecka; Rafał Płoski; Grażyna Truszkowska; Maciej Pronicki; Paulina Felczak; Mateusz Śpiewak; Aleksandra Podlecka-Piętowska; Martyna Sitek; Zofia T Bilińska; Przemysław Leszek; Małgorzata Bednarska-Makaruk
Journal:  Life (Basel)       Date:  2021-12-21
  6 in total

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