Article

Intracellular Membrane Repair Dysregulation and Accumulation of Mature Myostatin Protein are Novel Markers of Muscle Pathophysiology in Pompe Disease

2026-01-30

Abstract excerpt

<title>Abstract</title> <p>Pompe disease is an autosomal recessive metabolic disorder caused by acid alpha-glucosidase deficiency, characterized by progressive skeletal muscle weakness and respiratory insufficiency. Affected muscles exhibit glycogen-filled lysosomes, autophagic build-up, and mitochondrial abnormalities. Despite global myofibrillar disorganization, satellite cells (SCs) fail to activate, due to me...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: eb2f0922-0422-5904-95d4-2ba213108705
DOI: 10.21203/rs.3.rs-8603735/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Intracellular Membrane Repair Dysregulation and Accumulation of Mature Myostatin Protein are Novel Markers of Muscle Pathophysiology in Pompe DiseaseDOI 10.21203/rs.3.rs-8603735/v1Read

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

Pompe Disease: A Review of Diagnosis, Molecular Genetics, and Treatment Management.Semantic proximity Read

Fibroadipogenic progenitors are responsible for muscle loss in limb girdle muscular dystrophy 2BSemantic proximity Read

From Acid Alpha-Glucosidase Deficiency to Autophagy: Understanding the Bases of POMPE Disease.Semantic proximity Read

Pompe disease: from new views on pathophysiology to innovative therapeutic strategies.Semantic proximity Read

A Comprehensive Update on Pompe Disease: From Existing Therapies to Emerging Curative Strategies.Semantic proximity Read

Deconstructing Pompe Disease by Analyzing Single Muscle Fibers: “To See a World in a Grain of Sand…”Semantic proximity Read

Defining and identifying satellite cell-opathies within muscular dystrophies and myopathies.Semantic proximity Read

An integrative correlation of myopathology, phenotype and genotype in late onset Pompe diseaseSemantic proximity Read

The emerging phenotype of late-onset Pompe disease: A systematic literature review.Semantic 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

Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolismSemantic proximity Read