Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts.

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作者： Emanuele,Buratti ^[1] ; Paolo,Peruzzo ^[2] ; Luca,Braga ^[1] ; Irene,Zanin ^[3] ; Cristiana,Stuani ^[2] ; Elisa,Goina ^[1] ; Maurizio,Romano ^[1] ; Mauro,Giacca ^[3] ; Andrea,Dardis ^[1]

作者单位： International Centre for Genetic Engineering and Biotechnology (ICGEB), Area Science Park, Padriciano, Trieste, Italy. ^[1] Centre for Rare Diseases, Academic Hospital Santa Maria della Misericordia, Udine, Italy. ^[2] Department of Life Sciences, Via Valerio 28, University of Trieste, 34127 Trieste, Italy. ^[3] School of Cardiovascular Medicine & Sciences, King's College London British Heart Foundation Centre, London SE5 9NU, United Kingdom. ^[4]

关键词 GAA Pompe disease deferoxamine glycogenosis type 2 pre-mRNA splicing reporter

DOI 10.1016/j.omtm.2020.11.011

PMID 33426149

发布时间 2021-01-12

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Molecular therapy. Methods & clinical development

2021年20卷

227-236页

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Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts.

Molecular therapy. Methods & clinical development

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Molecular therapy. Methods & clinical development

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Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T&gt;G allele in late-onset PD patient fibroblasts.

Molecular therapy. Methods & clinical development

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Molecular therapy. Methods & clinical development

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Deferoxamine mesylate improves splicing and GAA activity of the common c.-32-13T>G allele in late-onset PD patient fibroblasts.