Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.

Molecular genetics and metabolism - 1 Jul 2012

Palermo A T, Palmer R E, So K S, Oba-Shinjo S M, Zhang M, Richards B, Madhiwalla S T, Finn P F, Hasegawa A, Ciociola K M, Pescatori M, McVie-Wylie A J, Mattaliano R J, Madden S L, Marie S K N, Klinger K W, Pomponio R J

Abstract excerpt

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...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Age of Onset
Share to alpha-Glucosidases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression

Share to Glycogen Storage Disease Type II

Share to Infant

Share to Infant, Newborn

Share to Muscle, Skeletal

Share to Transcription, Genetic

Source

Identifiers

PMID: 22658377
DOI: 10.1016/j.ymgme.2012.05.004

Genes

GAA

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22658377-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Transcriptional response to GAA deficiency (Pompe disease) in infantile-onset patients.PMID 22658377Read ↗

The new era of Pompe disease: Advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and managementSemantic proximity Read ↗

Transcriptome assessment of the Pompe (<i>Gaa</i><sup><i>−/−</i></sup>) mouse spinal cord indicates widespread neuropathologySemantic proximity Read ↗

Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.Semantic proximity Read ↗

A Skeletal Muscle Model of Infantile-onset Pompe Disease with Patient-specific iPS Cells.Semantic proximity Read ↗

Long-Term Functional Correction of Pompe Disease and Increased α-Glucosidase Expression after Gene Therapy with Novel Combinations of Muscle-Targeted Transcriptional Cis -Regulatory ElementsSemantic proximity Read ↗

Intracellular Membrane Repair Dysregulation and Accumulation of Mature Myostatin Protein are Novel Markers of Muscle Pathophysiology in Pompe DiseaseSemantic proximity Read ↗

The emerging phenotype of long-term survivors with infantile Pompe disease.Semantic proximity Read ↗

Dissection of temporal gene expression signatures of affected and spared muscle groups in dystrophin-deficient ( mdx ) miceSemantic proximity Read ↗

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression.Semantic proximity Read ↗

CRISPR-Cas9 generated Pompe knock-in murine model exhibits early-onset hypertrophic cardiomyopathy and skeletal muscle weaknessSemantic proximity Read ↗

Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis.Semantic proximity Read ↗

Novel transcriptional profile in wrist muscles from cerebral palsy patientsSemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.