Literature DB >> 33960213

A novel gene therapy for neurodegenerative Lafora disease via EPM2A-loaded DLinDMA lipoplexes.

Hari Priya Vemana1, Aishwarya Saraswat1, Shraddha Bhutkar1, Ketan Patel1, Vikas V Dukhande1.   

Abstract

Aim: To develop novel cationic liposomes as a nonviral gene delivery vector for the treatment of rare diseases, such as Lafora disease - a neurodegenerative epilepsy. Materials & methods: DLinDMA and DOTAP liposomes were formulated and characterized for the delivery of gene encoding laforin and expression of functional protein in HEK293 and neuroblastoma cells.
Results: Liposomes with cationic lipids DLinDMA and DOTAP showed good physicochemical characteristics. Nanosized DLinDMA liposomes demonstrated desired transfection efficiency, negligible hemolysis and minimal cytotoxicity. Western blotting confirmed successful expression and glucan phosphatase assay demonstrated the biological activity of laforin.
Conclusion: Our study is a novel preclinical effort in formulating cationic lipoplexes containing plasmid DNA for the therapy of rare genetic diseases such as Lafora disease.

Entities:  

Keywords:  DLinDMA liposomes; Lafora disease; gene delivery; gene therapy; laforin; neurodegenerative disorders; rare diseases

Mesh:

Substances:

Year:  2021        PMID: 33960213      PMCID: PMC8162161          DOI: 10.2217/nnm-2020-0477

Source DB:  PubMed          Journal:  Nanomedicine (Lond)        ISSN: 1743-5889            Impact factor:   5.307


  47 in total

1.  Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforin.

Authors:  Anna A DePaoli-Roach; Vincent S Tagliabracci; Dyann M Segvich; Catalina M Meyer; Jose M Irimia; Peter J Roach
Journal:  J Biol Chem       Date:  2010-06-10       Impact factor: 5.157

2.  Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin.

Authors:  Matthew S Gentry; Carolyn A Worby; Jack E Dixon
Journal:  Proc Natl Acad Sci U S A       Date:  2005-06-01       Impact factor: 11.205

3.  A bioassay for Lafora disease and laforin glucan phosphatase activity.

Authors:  Amanda R Sherwood; Mary Beth Johnson; Antonio V Delgado-Escueta; Matthew S Gentry
Journal:  Clin Biochem       Date:  2013-09-06       Impact factor: 3.281

4.  A pilot study of a ketogenic diet in patients with Lafora body disease.

Authors:  Simonetta Cardinali; Laura Canafoglia; Simona Bertoli; Silvana Franceschetti; Giovanni Lanzi; Anna Tagliabue; Pierangelo Veggiotti
Journal:  Epilepsy Res       Date:  2006-02-28       Impact factor: 3.045

Review 5.  Lafora's disease: towards a clinical, pathologic, and molecular synthesis.

Authors:  B A Minassian
Journal:  Pediatr Neurol       Date:  2001-07       Impact factor: 3.372

6.  Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates.

Authors:  Carolyn A Worby; Matthew S Gentry; Jack E Dixon
Journal:  J Biol Chem       Date:  2006-08-10       Impact factor: 5.157

7.  Enhancement of liposome mediated gene transfer by adding cholesterol and cholesterol modulating drugs.

Authors:  Yun-Ui Bae; Jae-Wan Huh; Bieong-Kil Kim; Hyeon Young Park; Young-Bae Seu; Kyung-Oh Doh
Journal:  Biochim Biophys Acta       Date:  2016-09-21

Review 8.  Myoclonus and seizures in progressive myoclonus epilepsies: pharmacology and therapeutic trials.

Authors:  Roberto Michelucci; Elena Pasini; Patrizia Riguzzi; Eva Andermann; Reetta Kälviäinen; Pierre Genton
Journal:  Epileptic Disord       Date:  2016-09-01       Impact factor: 1.819

Review 9.  Extracellular and intracellular barriers in non-viral gene delivery.

Authors:  Marika Ruponen; Paavo Honkakoski; Seppo Rönkkö; Jukka Pelkonen; Markku Tammi; Arto Urtti
Journal:  J Control Release       Date:  2003-12-05       Impact factor: 9.776

10.  The role of the helper lipid on the DNA transfection efficiency of lipopolyplex formulations.

Authors:  Zixiu Du; Mustafa M Munye; Aristides D Tagalakis; Maria D I Manunta; Stephen L Hart
Journal:  Sci Rep       Date:  2014-11-19       Impact factor: 4.379

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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

Review 2.  How far are the new wave of mRNA drugs from us? mRNA product current perspective and future development.

Authors:  Qiongyu Duan; Tianyu Hu; Qiuxia Zhu; Xueying Jin; Feng Chi; Xiaodong Chen
Journal:  Front Immunol       Date:  2022-09-12       Impact factor: 8.786

Review 3.  Lafora disease: Current biology and therapeutic approaches.

Authors:  S Mitra; E Gumusgoz; B A Minassian
Journal:  Rev Neurol (Paris)       Date:  2021-07-21       Impact factor: 4.313

  3 in total

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