Article

Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscle

2022-01-27

Abstract excerpt

<title>Abstract</title> <p>Polyglutamine (polyQ)-expanded androgen receptor (AR) causes spinobulbar muscular atrophy. Skeletal muscle is a primary site of polyQ-expanded AR toxicity, however it remains to be established what the early pathological processes are and how they unfold during disease progression. Using transgenic, knock-in SBMA mice and patient-derived muscle biopsies, we show that polyQ-expanded AR a...

Topics

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

Identifiers and source

Literature Corpus work: 9a3abf76-a509-5e0b-88ba-3afa843d0991
DOI: 10.21203/rs.3.rs-1261384/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Defective excitation-contraction coupling and mitochondrial respiration precede mitochondrial Ca2+ accumulation in spinobulbar muscular atrophy skeletal muscleDOI 10.21203/rs.3.rs-1261384/v1Read

Polyglutamine-expanded androgen receptor disrupts muscle triad, calcium dynamics and the excitation-contraction coupling gene expression programSemantic proximity Read

Disease mechanism, biomarker and therapeutics for spinal and bulbar muscular atrophy (SBMA)Semantic proximity Read

Muscle expression of mutant androgen receptor accounts for systemic and motor neuron disease phenotypes in spinal and bulbar muscular atrophy.Semantic proximity Read

Distinct Etiological Roles for Myocytes and Motor Neurons in a Mouse Model of Kennedy's Disease/Spinobulbar Muscular AtrophySemantic proximity Read

Spinal and bulbar muscular atrophy: From molecular pathogenesis to pharmacological intervention targeting skeletal muscleSemantic proximity Read

Increased mitophagy in the skeletal muscle of spinal and bulbar muscular atrophy patientsSemantic proximity Read

Aberrant Autophagic Response in The Muscle of A Knock-in Mouse Model of Spinal and Bulbar Muscular AtrophySemantic proximity Read

AR cooperates with SMAD4 to maintain skeletal muscle homeostasisSemantic proximity Read

Molecular Mechanisms and Therapeutics for SBMA/Kennedy's DiseaseSemantic proximity Read

The Nuclear Receptor, Nor-1, Induces the Physiological Responses Associated With Exercise.Semantic proximity Read

Signaling Pathways in Skeletal Muscle RemodelingSemantic proximity Read

CtBP1 coordinates synaptic, metabolic and contractile changes induced by denervation in skeletal muscleSemantic proximity Read