Article

Novel VCP activator reverses multisystem proteinopathy nuclear proteostasis defects and enhances TDP-43 aggregate clearance

2023-03-15

Abstract excerpt

Pathogenic variants in VCP cause multisystem proteinopathy (MSP), a disease characterized by multiple clinical phenotypes including inclusion body myopathy, Paget’s disease of the bone, and frontotemporal dementia (FTD). How such diverse phenotypes are driven by pathogenic VCP variants is not known. We found that these diseases exhibit a common pathologic feature, ubiquitinated intranuclear inclusions affecting m...

Topics

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

Identifiers and source

Literature Corpus work: 57ce2dd5-dc2c-521e-bc65-ebcf33e8a9c0
DOI: 10.1101/2023.03.15.532082

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Novel VCP activator reverses multisystem proteinopathy nuclear proteostasis defects and enhances TDP-43 aggregate clearanceDOI 10.1101/2023.03.15.532082Read

VCP activator reverses nuclear proteostasis defects and enhances TDP-43 aggregate clearance in multisystem proteinopathy modelsSemantic proximity Read

The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.Semantic proximity Read

Impaired protein aggregate handling and clearance underlie the pathogenesis of p97/VCP-associated disease.Semantic proximity Read

VCP mutations causing frontotemporal lobar degeneration disrupt localization of TDP-43 and induce cell death.Semantic proximity Read

P97/VCP ATPase inhibitors can rescue p97 mutation-linked motor neuron degenerationSemantic proximity Read

Valosin-containing protein gene mutations: cellular phenotypes relevant to neurodegeneration.Semantic proximity Read

Valosin Containing Protein Associated Fronto-Temporal Lobar Degeneration:Clinical Presentation, Pathologic Features and PathogenesisSemantic proximity Read

Multisystem proteinopathy: Where myopathy and motor neuron disease converge.Semantic proximity Read

Valosin-containing protein and the pathogenesis of frontotemporal dementia associated with inclusion body myopathy.Semantic proximity Read

Enhanced ATPase activities as a primary defect of mutant valosin-containing proteins that cause inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia.Semantic proximity Read

Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein.Semantic proximity Read

Autosomal Dominant Inclusion Body Myopathy, Paget Disease of Bone, and Frontotemporal DementiaSemantic proximity Read