GEO DataSets

Analysis of biceps biopsies from untreated patients with infantile-onset Pompe. Pompe disease is a genetic disorder resulting from lysosomal acid alpha-glucosidase (GAA) deficiency; the severest form affects infants. Results provide insight into the molecular basis of infantile-onset Pompe disease.

Organism:

Homo sapiens

Type:

Expression profiling by array, transformed count, 2 disease state sets

Platform:

GPL570

Series:

GSE38680

19 Samples

Download data: CEL

(Submitter supplied) Pompe disease is a genetic disorder resulting from a deficiency of lysosomal acid alpha-glucosidase (GAA) that manifests as a clinical spectrum with regard to symptom severity and rate of progression. In this study, we used microarrays to examine gene expression from the muscle of two cohorts of infantile-onset Pompe patients to identify transcriptional differences that may contribute to the disease phenotype. more...

Organism:

Homo sapiens

Type:

Expression profiling by array

Datasets:

GDS4409 GDS4410

Platform:

GPL570

58 Samples

Download data: CEL

Analysis of quadriceps biopsies from infantile-onset Pompe disease patients treated with recombinant human lysosomal acid alpha-glucosidase (rhGAA, Myozyme) for up to 52 weeks. Results provide insight into molecular mechanisms underlying the response to therapy (positive vs. poor clinical outcome).

Organism:

Homo sapiens

Type:

Expression profiling by array, transformed count, 2 agent, 2 disease state, 18 individual, 3 other, 4 time sets

Platform:

GPL570

Series:

GSE38680

39 Samples

Download data: CEL

(Submitter supplied) Pompe disease is a neuromuscular disorder caused by mutations in the gene encoding for the lysosomal enzyme acid α-glucosidase (GAA). GAA converts lysosomal glycogen to glucose, and its deficiency leads to pathologic glycogen accumulation. Enzyme replacement therapy (ERT) is the only available treatment for Pompe disease at the moment with several shortcomings. We have shown that liver expression of secGAA has better therapeutic efficacy than non-engineered GAA after long-term treatment of four months old Gaa-/- mice with low vector doses. more...

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL17021

9 Samples

Download data: TXT

(Submitter supplied) We studied microRNAs as potential biomarkers for Pompe disease (PD). We analyzed microRNA expression by small RNA-seq in tissues from the PD mouse model at two different ages (3 and 9 months), and in plasma from 6 PD patients. In the PD mouse we found 211 microRNAs that were differentially expressed in gastrocnemii and 66 in heart, with a different pattern of expression at different ages. In a preliminary analysis in plasma from 6 PD patients 55 microRNAs were differentially expressed.

Organism:

Homo sapiens; Mus musculus

Type:

Non-coding RNA profiling by high throughput sequencing

Platforms:

GPL15433 GPL15103

35 Samples

Download data: TXT