ReviewNeuromuscular disorders : NMD2009
Valosin-containing protein disease: inclusion body myopathy with Paget's disease of the bone and fronto-temporal dementia.
Review in Neuromuscular disorders : NMD, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01353430 (Characterization of Familial Myopathy and Paget Disease of Bone), which is not on this map. Cited by 115 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Characterization of Familial Myopathy and Paget Disease of Bone
Who cites it
115 citing papers in PubMed, 1 synthesis or guideline pooled it, 240 citations in OpenAlex.
- A Brazilian family with inclusion body myopathy associated with Paget's disease of bone and frontotemporal dementia linked to the VCP pGly97Glu mutation.Clinical rheumatology · 2018Pooled it
- ASPL-driven subunit exchange remodels VCP/p97 hexamers and is impaired by a multisystem proteinopathy mutation.bioRxiv : the preprint server for biology · 2026Article
- The role of the unfolded protein response pathway in bone homeostasis and potential therapeutic target in cancer-associated bone disease.Bone research · 2025Review
- Validity and Reliability of Clinical and Patient-Reported Outcomes in Multisystem Proteinopathy 1.Annals of clinical and translational neurology · 2025Article
- VCP regulates early tau seed amplification via specific cofactors.Molecular neurodegeneration · 2025Article
- A guide to selecting high-performing antibodies for VCP (UniProt ID: P55072) for use in western blot, immunoprecipitation, and immunofluorescence.F1000Research · 2025Article
- Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.Disease models & mechanisms · 2024Review
- Cardiac-Specific Suppression of Valosin-Containing Protein Induces Progressive Heart Failure and Premature Mortality Correlating with Temporal Dysregulations in mTOR Complex 2 and Protein Phosphatase 1.International journal of molecular sciences · 2024Article
- VCP regulates early tau seed amplification via specific cofactors.Research square · 2024Article
- The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.Brain : a journal of neurology · 2024Article
- Targeting mitochondrial CaThe Journal of physiology · 2024Review
- Atl (atlastin) regulates mTor signaling and autophagy in Drosophila muscle through alteration of the lysosomal network.Autophagy · 2024Article
- Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis.Journal of neurology · 2023Article
- Review
- Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy.Neurology. Genetics · 2023Article
- Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.Neurology. Genetics · 2023Article
- Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP-related multisystem proteinopathy.Molecular genetics & genomic medicine · 2023Article
- Anti-Valosin-Containing Protein (VCP/p97) Autoantibodies in Inclusion Body Myositis and Other Inflammatory Myopathies.ACR open rheumatology · 2023Article
- Is bRaQCing bad? New roles for ribosome associated quality control factors in stress granule regulation.Biochemical Society transactions · 2022Article
- Valosin-containing protein (VCP/p97) inhibition reduces viral clearance and induces toxicity associated with muscular damage.Cell death & disease · 2022Article
55 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in valosin-containing protein (VCP) cause inclusion body myopathy (IBM) associated with Paget's disease of the bone (PDB) and fronto-temporal dementia (FTD) or IBMPFD. Although IBMPFD is a multisystem disorder, muscle weakness is the presenting symptom in greater than half of patients and an isolated symptom in 30%. Patients with the full spectrum of the disease make up only 12% of those affected; therefore it is important to consider and recognize IBMPFD in a neuromuscular clinic. The current review describes the skeletal muscle phenotype and common muscle histochemical features in IBMPFD. In addition to myopathic features; vacuolar changes and tubulofilamentous inclusions are found in a subset of patients. The most consistent findings are VCP, ubiquitin and TAR DNA-binding protein 43 (TDP-43) positive inclusions. VCP is a ubiquitously expressed multifunctional protein that is a member of the AAA+ (ATPase associated with various activities) protein family. It has been implicated in multiple cellular functions ranging from organelle biogenesis to protein degradation. Although the role of VCP in skeletal muscle is currently unknown, it is clear that VCP mutations lead to the accumulation of ubiquitinated inclusions and protein aggregates in patient tissue, transgenic animals and in vitro systems. We suggest that IBMPFD is novel type of protein surplus myopathy. Instead of accumulating a poorly degraded and aggregated mutant protein as seen in some myofibrillar and nemaline myopathies, VCP mutations disrupt its normal role in protein homeostasis resulting in the accumulation of ubiquitinated and aggregated proteins that are deleterious to skeletal muscle.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.