Literature DB >> 16409150

Enzyme replacement for lysosomal diseases.

Roscoe O Brady1.   

Abstract

Following the demonstration of the nature of the enzymatic defects in the sphingolipid storage disorders in the mid-1960s, consideration was directed to the development of therapy for patients with these conditions. High on the list of possibilities was enzyme supplementation or replacement. Many years of arduous investigation and the development of novel protein targeting strategies were required to bring this concept to fruition. Enzyme replacement therapy (ERT) was eventually shown to be extraordinarily effective for patients with Gaucher disease, the most prevalent metabolic storage disorder of humans. Demonstration of the benefit of ERT in this disorder led to the extension of this approach to the treatment of other lysosomal storage disorders. This review presents the current status and anticipated developments in this field.

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Year:  2006        PMID: 16409150     DOI: 10.1146/annurev.med.57.110104.115650

Source DB:  PubMed          Journal:  Annu Rev Med        ISSN: 0066-4219            Impact factor:   13.739


  98 in total

1.  Histone deacetylase inhibitors prevent the degradation and restore the activity of glucocerebrosidase in Gaucher disease.

Authors:  Jie Lu; Chunzhang Yang; Masako Chen; Donald Y Ye; Russell R Lonser; Roscoe O Brady; Zhengping Zhuang
Journal:  Proc Natl Acad Sci U S A       Date:  2011-12-12       Impact factor: 11.205

Review 2.  Newborn screening for neuropathic lysosomal storage disorders.

Authors:  Wuh-Liang Hwu; Yin-Hsiu Chien; Ni-Chung Lee
Journal:  J Inherit Metab Dis       Date:  2010-06-08       Impact factor: 4.982

3.  Velaglucerase alfa.

Authors:  Johannes M F G Aerts; Uma Yasothan; Peter Kirkpatrick
Journal:  Nat Rev Drug Discov       Date:  2010-10-29       Impact factor: 84.694

4.  Successful TAT-mediated enzyme replacement therapy in a mouse model of mitochondrial E3 deficiency.

Authors:  Matan Rapoport; Lina Salman; Ofra Sabag; Mulchand S Patel; Haya Lorberboum-Galski
Journal:  J Mol Med (Berl)       Date:  2010-11-16       Impact factor: 4.599

5.  α-Galactosidase aggregation is a determinant of pharmacological chaperone efficacy on Fabry disease mutants.

Authors:  Aleksandra Siekierska; Greet De Baets; Joke Reumers; Rodrigo Gallardo; Stanislav Rudyak; Kerensa Broersen; Jose Couceiro; Joost Van Durme; Joost Schymkowitz; Frederic Rousseau
Journal:  J Biol Chem       Date:  2012-07-06       Impact factor: 5.157

Review 6.  Gene therapy for the neurological manifestations in lysosomal storage disorders.

Authors:  Seng H Cheng
Journal:  J Lipid Res       Date:  2014-03-29       Impact factor: 5.922

7.  Multimodal Enzyme Delivery and Therapy Enabled by Cell Membrane-Coated Metal-Organic Framework Nanoparticles.

Authors:  Jia Zhuang; Yaou Duan; Qiangzhe Zhang; Weiwei Gao; Shulin Li; Ronnie H Fang; Liangfang Zhang
Journal:  Nano Lett       Date:  2020-05-04       Impact factor: 11.189

Review 8.  Substrate deprivation therapy: a new hope for patients suffering from neuronopathic forms of inherited lysosomal storage diseases.

Authors:  Joanna Jakóbkiewicz-Banecka; Alicja Wegrzyn; Grzegorz Wegrzyn
Journal:  J Appl Genet       Date:  2007       Impact factor: 3.240

9.  Synthesis of high-mannose oligosaccharides containing mannose-6-phosphate residues using regioselective glycosylation.

Authors:  Bo Meng; Jun Wang; Quanli Wang; Anthony S Serianni; Qingfeng Pan
Journal:  Carbohydr Res       Date:  2018-07-31       Impact factor: 2.104

10.  Gaucher iPSC-derived macrophages produce elevated levels of inflammatory mediators and serve as a new platform for therapeutic development.

Authors:  Leelamma M Panicker; Diana Miller; Ola Awad; Vivek Bose; Yu Lun; Tea Soon Park; Elias T Zambidis; Judi A Sgambato; Ricardo A Feldman
Journal:  Stem Cells       Date:  2014-09       Impact factor: 6.277

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