Transcriptomics

Dataset Information

334

Skeletal muscle gene expression in the wild type and the GAA knock-out mice, a model of Pompe disease


ABSTRACT: Pompe disease is a Lysosomal glycogen storage disorder due to the deficiency of acid alpha glucosidase. The enzyme degrades glycogen to glucose and its deficiency results in progressive enlargement of glycogen-filled lysosomes in multiple tissues with skeletal and cardiac muscle most severely affected clinically. Clinical spectrum ranges from most severe infantile cardiomegally and skeletal muscle myopathy to milder late onset forms with only skeletal muscle pathology. The currently available enzyme replacement therapy has only limited effect in skeletal muscle. Here we use RNA sequencing of therapy-resistant skeletal muscle (white part of gastrocnemius muscle) to identify the differencies between the diseased and healthy muscle. Total RNA was obtained from gastrocnemius muscle (white part) of acid alpha glucosidase knock-out and wild-type mice.

ORGANISM(S): Mus musculus  

SUBMITTER: Gustavo Gutierrez-Cruz   Hong-Wei Sun  Nina Raben  Jeong-A Lim  Hong-wei Sun 

PROVIDER: E-GEOD-57980 | ArrayExpress | 2017-05-13

SECONDARY ACCESSION(S): SRP042287GSE57980PRJNA248646

REPOSITORIES: GEO, ArrayExpress, ENA

Similar Datasets

2010-12-01 | GSE23365 | GEO
2010-12-01 | E-GEOD-23365 | ArrayExpress
2012-06-14 | GSE38680 | GEO
2016-05-16 | E-GEOD-77822 | ArrayExpress
2007-09-25 | E-GEOD-2198 | ArrayExpress
2006-01-27 | GSE2198 | GEO
| GSE75713 | GEO
2016-04-06 | E-GEOD-78780 | ArrayExpress
2010-07-31 | GSE16438 | GEO
2010-07-31 | E-GEOD-16438 | ArrayExpress