Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone

VCP/p97 is essential for maturation of ubiquitin-containing autophagosomes and this function is impaired by mutations that cause IBMPFD

(2010) Emilie Tresse et al.   Autophagy

Inclusion body myopathy, Paget’s disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling

(2009) V Viassolo et al.   CLINICAL GENETICS

VCPMutations Causing Frontotemporal Lobar Degeneration Disrupt Localization of TDP-43 and Induce Cell Death

(2009) Michael A. Gitcho et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sequestosome 1 Mutations in Paget's Disease of Bone in Australia: Prevalence, Genotype/Phenotype Correlation, and a Novel Non-UBA Domain Mutation (P364S) Associated With Increased NF-κB Signaling Without Loss of Ubiquitin Binding

(2009) Sarah L Rea et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Valosin-containing protein (VCP) is required for autophagy and is disrupted in VCP disease

(2009) Jeong-Sun Ju et al.   JOURNAL OF CELL BIOLOGY

Inclusion body myositis: old and new concepts

(2009) A A Amato et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Hereditary Inclusion Body Myopathy-Linked p97/VCP Mutations in the NH2 Domain and the D1 Ring Modulate p97/VCP ATPase Activity and D2 Ring Conformation

(2009) D. Halawani et al.   MOLECULAR AND CELLULAR BIOLOGY

The p62 P392L Mutation Linked to Paget’s Disease Induces Activation of Human Osteoclasts

(2009) Estelle Chamoux et al.   MOLECULAR ENDOCRINOLOGY

Sarcoplasmic redistribution of nuclear TDP-43 in inclusion body myositis

(2009) Mohammad Salajegheh et al.   MUSCLE & NERVE

A novel mutation in the VCP gene (G157R) in a german family with inclusion-body myopathy with paget disease of bone and frontotemporal dementia

(2009) Atbin Djamshidian et al.   MUSCLE & NERVE

Hereditary inclusion-body myopathy: Clues on pathogenesis and possible therapy

(2009) Aldobrando Broccolini et al.   MUSCLE & NERVE

Valosin-containing protein disease: Inclusion body myopathy with Paget’s disease of the bone and fronto-temporal dementia

(2009) Conrad C. Weihl et al.   NEUROMUSCULAR DISORDERS

TDP-43 accumulation is common in myopathies with rimmed vacuoles

(2008) Benno Küsters et al.   ACTA NEUROPATHOLOGICA

Clinical studies in familial VCP myopathy associated with Paget disease of bone and frontotemporal dementia

(2008) Virginia. E. Kimonis et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Evidence of Multisystem Disorder in Whole-Brain Map of Pathological TDP-43 in Amyotrophic Lateral Sclerosis

(2008) Felix Geser et al.   ARCHIVES OF NEUROLOGY

NF-κB functions in osteoclasts

(2008) N.S. Soysa et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Roles of VCP in human neurodegenerative disorders

(2008) Akira Kakizuka   BIOCHEMICAL SOCIETY TRANSACTIONS

A SQSTM1/p62 mutation linked to Paget’s disease increases the osteoclastogenic potential of the bone microenvironment

(2008) Yuko Hiruma et al.   HUMAN MOLECULAR GENETICS

Skeletal Muscle Diseases, Inflammation, and NF-κB Signaling: Insights and Opportunities for Therapeutic Intervention

(2008) Jennifer M. Peterson et al.   INTERNATIONAL REVIEWS OF IMMUNOLOGY

Characterization of a Non-UBA Domain Missense Mutation of Sequestosome 1 (SQSTM1) in Paget's Disease of Bone

(2008) Dereen Najat et al.   JOURNAL OF BONE AND MINERAL RESEARCH

TDP-43 accumulation in inclusion body myopathy muscle suggests a common pathogenic mechanism with frontotemporal dementia

(2008) C C Weihl et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Parkinsonism and impaired axonal transport in a mouse model of frontotemporal dementia

(2008) L. M. Ittner et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Protein quality control gets muscle into shape

(2008) Johnny Kim et al.   TRENDS IN CELL BIOLOGY

An Italian family with inclusion-body myopathy and frontotemporal dementia due to mutation in theVCP gene

(2007) Teresa Gidaro et al.   MUSCLE & NERVE

Inclusion body myopathy and frontotemporal dementia caused by a novel VCP mutation

(2007) Anna Bersano et al.   NEUROBIOLOGY OF AGING