Uptake of moss‐derived human recombinant GAA in Gaa −/− mice
نویسندگان
چکیده
منابع مشابه
Airway smooth muscle dysfunction in Pompe (Gaa-/- ) mice.
Pompe disease is an autosomal recessive disorder caused by a deficiency of acid α-glucosidase (GAA), an enzyme responsible for hydrolyzing lysosomal glycogen. Deficiency of GAA leads to systemic glycogen accumulation in the lysosomes of skeletal muscle, motor neurons, and smooth muscle. Skeletal muscle and motor neuron pathology are known to contribute to respiratory insufficiency in Pompe dise...
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Friedreich's ataxia (FRDA) is a genetic neurodegenerative disorder caused by transcriptional silencing of the frataxin gene (FXN) due to expansions of GAA repeats in intron 1. FRDA manifests with multiple symptoms, which may include ataxia, cardiomyopathy and diabetes mellitus. Expanded GAA tracts are genetically unstable, exhibiting both expansions and contractions. GAA length correlates with ...
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ژورنال
عنوان ژورنال: JIMD Reports
سال: 2021
ISSN: 2192-8312,2192-8312
DOI: 10.1002/jmd2.12203