AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency

AAV9-NGLY1 gene replacement therapy improves phenotypic and biomarker endpoints in a rat model of NGLY1 Deficiency

N-glycanase 1 (NGLY1) Deficiency is a progressive, ultra-rare, autosomal recessive disorder with no approved therapy and five core clinical features: severe global developmental delay, hyperkinetic movement disorder, elevated liver transaminases, alacrima, and peripheral neuropathy. Here, we confirm...

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Bibliographic Details
Main Authors: Lei Zhu, Brandon Tan, Selina S. Dwight, Brendan Beahm, Matt Wilsey, Brett E. Crawford, Becky Schweighardt, Jennifer W. Cook, Thomas Wechsler, William F. Mueller
Format: Article
Language:English
Published: Elsevier 2022-12-01
Series:Molecular Therapy: Methods & Clinical Development
Subjects:
MT: NGLY1
NGLY1 Deficiency
gene therapy
CNS
GNA
intracerebroventricular
Online Access:http://www.sciencedirect.com/science/article/pii/S2329050122001401

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http://www.sciencedirect.com/science/article/pii/S2329050122001401

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