Literature DB >> 27630083

Post-modern therapeutic approaches for progressive myoclonus epilepsy.

Berge A Minassian1.   

Abstract

While the PME are arguably the severest epilepsies and neurological disorders, the vast majority are monogenic. Additionally, many affect straightforward biochemical pathways. Finally, by definition, they occur in previously healthy and well-developed brains. As such, their therapies should be easier than in complex, albeit often less severe, neurological developmental disorders where the complex, poorly understood, and extremely difficult-to-correct, neural network of the brain is affected. This last article reviews the latest cutting edge technologies in monogenic disease therapy, with some examples provided applicable to a number of disease. It aims to give a sense of where we are and how much closer we are, to the goal of making an actual organic difference.

Entities:  

Keywords:  AAV9; CRISPR; Cas9; gene therapy; progressive myoclonus epilepsies; small molecule

Mesh:

Year:  2016        PMID: 27630083      PMCID: PMC5691359          DOI: 10.1684/epd.2016.0862

Source DB:  PubMed          Journal:  Epileptic Disord        ISSN: 1294-9361            Impact factor:   1.819


  12 in total

1.  Efficient Delivery of Structurally Diverse Protein Cargo into Mammalian Cells by a Bacterial Toxin.

Authors:  Anick Auger; Minyoung Park; Felix Nitschke; Lori M Minassian; Greg L Beilhartz; Berge A Minassian; Roman A Melnyk
Journal:  Mol Pharm       Date:  2015-07-02       Impact factor: 4.939

Review 2.  Lafora disease.

Authors:  Julie Turnbull; Erica Tiberia; Pasquale Striano; Pierre Genton; Stirling Carpenter; Cameron A Ackerley; Berge A Minassian
Journal:  Epileptic Disord       Date:  2016-09-01       Impact factor: 1.819

3.  Improving single injection CSF delivery of AAV9-mediated gene therapy for SMA: a dose-response study in mice and nonhuman primates.

Authors:  Kathrin Meyer; Laura Ferraiuolo; Leah Schmelzer; Lyndsey Braun; Vicki McGovern; Shibi Likhite; Olivia Michels; Alessandra Govoni; Julie Fitzgerald; Pablo Morales; Kevin D Foust; Jerry R Mendell; Arthur H M Burghes; Brian K Kaspar
Journal:  Mol Ther       Date:  2014-10-31       Impact factor: 11.454

4.  Pyrimethamine as a potential pharmacological chaperone for late-onset forms of GM2 gangliosidosis.

Authors:  Gustavo H B Maegawa; Michael Tropak; Justin Buttner; Tracy Stockley; Fernando Kok; Joe T R Clarke; Don J Mahuran
Journal:  J Biol Chem       Date:  2007-01-21       Impact factor: 5.157

Review 5.  Antisense Therapy for Cardiovascular Diseases.

Authors:  M Ian Phillips; Jessica Costales; Robert J Lee; Edilamar Oliveira; Andrew B Burns
Journal:  Curr Pharm Des       Date:  2015       Impact factor: 3.116

6.  Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.

Authors:  Michael G Ricos; Bree L Hodgson; Tommaso Pippucci; Akzam Saidin; Yeh Sze Ong; Sarah E Heron; Laura Licchetta; Francesca Bisulli; Marta A Bayly; James Hughes; Sara Baldassari; Flavia Palombo; Margherita Santucci; Stefano Meletti; Samuel F Berkovic; Guido Rubboli; Paul Q Thomas; Ingrid E Scheffer; Paolo Tinuper; Joel Geoghegan; Andreas W Schreiber; Leanne M Dibbens
Journal:  Ann Neurol       Date:  2015-12-12       Impact factor: 10.422

Review 7.  Spinal muscular atrophy--recent therapeutic advances for an old challenge.

Authors:  Irene Faravelli; Monica Nizzardo; Giacomo P Comi; Stefania Corti
Journal:  Nat Rev Neurol       Date:  2015-05-19       Impact factor: 42.937

8.  Off-target mutations are rare in Cas9-modified mice.

Authors:  Vivek Iyer; Bin Shen; Wensheng Zhang; Alex Hodgkins; Thomas Keane; Xingxu Huang; William C Skarnes
Journal:  Nat Methods       Date:  2015-06       Impact factor: 28.547

9.  Effect of cyclic, low dose pyrimethamine treatment in patients with Late Onset Tay Sachs: an open label, extended pilot study.

Authors:  Etty Osher; Aviva Fattal-Valevski; Liora Sagie; Nataly Urshanski; Nadav Sagiv; Leah Peleg; Tally Lerman-Sagie; Ari Zimran; Deborah Elstein; Ruth Navon; Avi Valevski; Naftali Stern
Journal:  Orphanet J Rare Dis       Date:  2015-04-17       Impact factor: 4.123

10.  In vivo genome editing using Staphylococcus aureus Cas9.

Authors:  F Ann Ran; Le Cong; Winston X Yan; David A Scott; Jonathan S Gootenberg; Andrea J Kriz; Bernd Zetsche; Ophir Shalem; Xuebing Wu; Kira S Makarova; Eugene V Koonin; Phillip A Sharp; Feng Zhang
Journal:  Nature       Date:  2015-04-01       Impact factor: 49.962

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  2 in total

Review 1.  Drug Treatment of Progressive Myoclonic Epilepsy.

Authors:  Gregory L Holmes
Journal:  Paediatr Drugs       Date:  2020-04       Impact factor: 3.022

2.  Guaiacol as a drug candidate for treating adult polyglucosan body disease.

Authors:  Or Kakhlon; Igor Ferreira; Leonardo J Solmesky; Netaly Khazanov; Alexander Lossos; Rafael Alvarez; Deniz Yetil; Sergey Pampou; Miguel Weil; Hanoch Senderowitz; Pablo Escriba; Wyatt W Yue; H Orhan Akman
Journal:  JCI Insight       Date:  2018-09-06
  2 in total

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