Literature DB >> 33946009

The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure.

Kia H Markussen1, Jessica K A Macedo2, María Machío3, Alison Dolce4, Y Paul Goldberg5, Craig W Vander Kooi6, Matthew S Gentry7.   

Abstract

Lafora disease (LD) is a fatal childhood dementia with severe epilepsy and also a glycogen storage disease that is caused by recessive mutations in either the EPM2A or EPM2B genes. Aberrant, cytoplasmic carbohydrate aggregates called Lafora bodies (LBs) are both a hallmark and driver of the disease. The 6th International Lafora Epilepsy Workshop was held online due to the pandemic. Nearly 300 clinicians, academic and industry scientists, trainees, NIH representatives, and LD friends and family members participated in the event. Speakers covered aspects of LD including progress towards the clinic, the importance of establishing clinical progression, translational progress with repurposed drugs and additional pre-clinical therapies, and novel discoveries that define foundational LD mechanisms.
Copyright © 2021 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  Anti-sense oligonucleotide; Childhood dementia; Epilepsy; Glycogen; Glycogen storage disease; Lafora disease

Mesh:

Substances:

Year:  2021        PMID: 33946009      PMCID: PMC8154720          DOI: 10.1016/j.yebeh.2021.107975

Source DB:  PubMed          Journal:  Epilepsy Behav        ISSN: 1525-5050            Impact factor:   3.337


  34 in total

Review 1.  Molecular chaperones in protein folding and proteostasis.

Authors:  F Ulrich Hartl; Andreas Bracher; Manajit Hayer-Hartl
Journal:  Nature       Date:  2011-07-20       Impact factor: 49.962

2.  Discovery and Development of Small-Molecule Inhibitors of Glycogen Synthase.

Authors:  Buyun Tang; Mykhaylo S Frasinyuk; Vimbai M Chikwana; Krishna K Mahalingan; Cynthia A Morgan; Dyann M Segvich; Svitlana P Bondarenko; Galyna P Mrug; Przemyslaw Wyrebek; David S Watt; Anna A DePaoli-Roach; Peter J Roach; Thomas D Hurley
Journal:  J Med Chem       Date:  2020-03-23       Impact factor: 7.446

Review 3.  Lafora disease offers a unique window into neuronal glycogen metabolism.

Authors:  Matthew S Gentry; Joan J Guinovart; Berge A Minassian; Peter J Roach; Jose M Serratosa
Journal:  J Biol Chem       Date:  2018-02-26       Impact factor: 5.157

4.  Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy.

Authors:  Eugenio Mercuri; Basil T Darras; Claudia A Chiriboga; John W Day; Craig Campbell; Anne M Connolly; Susan T Iannaccone; Janbernd Kirschner; Nancy L Kuntz; Kayoko Saito; Perry B Shieh; Már Tulinius; Elena S Mazzone; Jacqueline Montes; Kathie M Bishop; Qingqing Yang; Richard Foster; Sarah Gheuens; C Frank Bennett; Wildon Farwell; Eugene Schneider; Darryl C De Vivo; Richard S Finkel
Journal:  N Engl J Med       Date:  2018-02-15       Impact factor: 91.245

5.  Reactive Glia-Derived Neuroinflammation: a Novel Hallmark in Lafora Progressive Myoclonus Epilepsy That Progresses with Age.

Authors:  Marcos Lahuerta; Daymé Gonzalez; Carmen Aguado; Alihamze Fathinajafabadi; José Luis García-Giménez; Mireia Moreno-Estellés; Carlos Romá-Mateo; Erwin Knecht; Federico V Pallardó; Pascual Sanz
Journal:  Mol Neurobiol       Date:  2019-12-05       Impact factor: 5.590

6.  Laforin, the most common protein mutated in Lafora disease, regulates autophagy.

Authors:  Carmen Aguado; Sovan Sarkar; Viktor I Korolchuk; Olga Criado; Santiago Vernia; Patricia Boya; Pascual Sanz; Santiago Rodríguez de Córdoba; Erwin Knecht; David C Rubinsztein
Journal:  Hum Mol Genet       Date:  2010-05-07       Impact factor: 6.150

7.  Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease.

Authors:  Saija Ahonen; Silvia Nitschke; Tamar R Grossman; Holly Kordasiewicz; Peixiang Wang; Xiaochu Zhao; Dikran R Guisso; Sahba Kasiri; Felix Nitschke; Berge A Minassian
Journal:  Brain       Date:  2021-11-29       Impact factor: 13.501

8.  PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease.

Authors:  Julie Turnbull; Anna A DePaoli-Roach; Xiaochu Zhao; Miguel A Cortez; Nela Pencea; Erica Tiberia; Mark Piliguian; Peter J Roach; Peixiang Wang; Cameron A Ackerley; Berge A Minassian
Journal:  PLoS Genet       Date:  2011-04-28       Impact factor: 5.917

Review 9.  Advances in oligonucleotide drug delivery.

Authors:  Thomas C Roberts; Robert Langer; Matthew J A Wood
Journal:  Nat Rev Drug Discov       Date:  2020-08-11       Impact factor: 84.694

10.  Suppression of glycogen synthesis as a treatment for Lafora disease: Establishing the window of opportunity.

Authors:  Olga Varea; Jordi Duran; Mònica Aguilera; Neus Prats; Joan J Guinovart
Journal:  Neurobiol Dis       Date:  2020-11-07       Impact factor: 5.996

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  3 in total

1.  Trehalose Treatment in Zebrafish Model of Lafora Disease.

Authors:  Stefania Della Vecchia; Asahi Ogi; Rosario Licitra; Francesca Abramo; Gabriele Nardi; Serena Mero; Silvia Landi; Roberta Battini; Federico Sicca; Gian Michele Ratto; Filippo Maria Santorelli; Maria Marchese
Journal:  Int J Mol Sci       Date:  2022-06-20       Impact factor: 6.208

2.  Natural history of Lafora disease: a prognostic systematic review and individual participant data meta-analysis.

Authors:  Luca Vignatelli; Francesca Bisulli; Federica Pondrelli; Lorenzo Muccioli; Laura Licchetta; Barbara Mostacci; Corrado Zenesini; Paolo Tinuper
Journal:  Orphanet J Rare Dis       Date:  2021-08-16       Impact factor: 4.123

3.  Pharmacological Modulation of Glutamatergic and Neuroinflammatory Pathways in a Lafora Disease Mouse Model.

Authors:  Belén Mollá; Miguel Heredia; Ángela Campos; Pascual Sanz
Journal:  Mol Neurobiol       Date:  2022-07-14       Impact factor: 5.682

  3 in total

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