Pathogenesis of Paget Disease of Bone

Lysine 63-linked polyubiquitin potentially partners with p62 to promote the clearance of protein inclusions by autophagy

(2014) Jeanne M.M Tan et al.   Autophagy

Emerging functions of the VCP/p97 AAA-ATPase in the ubiquitin system

(2012) Hemmo Meyer et al.   NATURE CELL BIOLOGY

Contributions of the Measles Virus Nucleocapsid Gene and the SQSTM1/p62P392L Mutation to Paget's Disease

(2011) Noriyoshi Kurihara et al.   Cell Metabolism

Autophagy Proteins Regulate the Secretory Component of Osteoclastic Bone Resorption

(2011) Carl J. DeSelm et al.   DEVELOPMENTAL CELL

Mutant p62P392LStimulation of Osteoclast Differentiation in Paget's Disease of Bone

(2011) Kumaran Sundaram et al.   ENDOCRINOLOGY

A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice

(2011) Anna Daroszewska et al.   HUMAN MOLECULAR GENETICS

Signal peptide mutations in RANK prevent downstream activation of NF-κB

(2011) Julie C Crockett et al.   JOURNAL OF BONE AND MINERAL RESEARCH

A nonsynonymousTNFRSF11Avariation increases NFκB activity and the severity of Paget's disease

(2011) Fernando Gianfrancesco et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Indications for a genetic association of a VCP polymorphism with the pathogenesis of sporadic Paget's disease of bone, but not for TNFSF11 (RANKL) and IL-6 polymorphisms

(2011) Pui Yan Jenny Chung et al.   MOLECULAR GENETICS AND METABOLISM

Endolysosomal sorting of ubiquitylated caveolin-1 is regulated by VCP and UBXD1 and impaired by VCP disease mutations

(2011) Danilo Ritz et al.   NATURE CELL BIOLOGY

Genome-wide association identifies three new susceptibility loci for Paget's disease of bone

(2011) Omar M E Albagha et al.   NATURE GENETICS

Optineurin Is Required for CYLD-Dependent Inhibition of TNFα-Induced NF-κB Activation

(2011) Ananthamurthy Nagabhushana et al.   PLoS One

Phosphorylation of the Autophagy Receptor Optineurin Restricts Salmonella Growth

(2011) P. Wild et al.   SCIENCE

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

Dickkopf-1 as a potential therapeutic target in Paget's disease of bone

(2010) Helen S McCarthy et al.   EXPERT OPINION ON THERAPEUTIC TARGETS

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

(2010) Sara K. Custer et al.   HUMAN MOLECULAR GENETICS

Osteoclasts in human osteopetrosis contain viral-nucleocapsid-like nuclear inclusions

(2010) Barbara G. Mills et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Absence of paramyxovirus RNA in cultures of pagetic bone cells and in pagetic bon

(2010) M.A. Birch et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Macrophage colony-stimulating factor restores bone resorption in op/op bone in vitro in conjunction with parathyroid hormone or 1,25-dihydroxyvitamin D3

(2010) Tomio Morohashi et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Failure to detect paramyxovirus sequences in paget's disease of bone using the polymerase chain reaction

(2010) Stuart H. Ralston et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Frequency and characteristics of familial aggregation of paget's disease of bone

(2010) A.A. Morales-Piga et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Familial aggregation of paget's disease of bone

(2010) Ethel S. Siris et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Archaeological skeletons support a northwest European origin for Paget's disease of bone

(2010) Simon Mays   JOURNAL OF BONE AND MINERAL RESEARCH

Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone

(2010) Pui Yan Jenny Chung et al.   JOURNAL OF BONE AND MINERAL RESEARCH

SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone

(2010) Luigi Gennari et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Mutations ofSQSTM1are associated with severity and clinical outcome in paget disease of bone

(2010) Micaela Rios Visconti et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Mutations of optineurin in amyotrophic lateral sclerosis

(2010) Hirofumi Maruyama et al.   NATURE

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

(2010) Omar M E Albagha et al.   NATURE GENETICS

Regulation of Mammalian Autophagy in Physiology and Pathophysiology

(2010) Brinda Ravikumar et al.   PHYSIOLOGICAL REVIEWS

VCP Associated Inclusion Body Myopathy and Paget Disease of Bone Knock-In Mouse Model Exhibits Tissue Pathology Typical of Human Disease

(2010) Mallikarjun Badadani et al.   PLoS One

Neighbor of Brca1 gene (Nbr1) functions as a negative regulator of postnatal osteoblastic bone formation and p38 MAPK activity

(2010) C. A. Whitehouse et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

NBR1 co-operates with p62 in selective autophagy of ubiquitinated targets

(2009) Vladimir Kirkin et al.   Autophagy

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

Randomized trial of intensive bisphosphonate treatment versus symptomatic management in paget's disease of bone

(2009) Anne L Langston 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

Recent advances in understanding the molecular basis of Paget disease of bone

(2009) A Goode et al.   JOURNAL OF CLINICAL PATHOLOGY

FGF-2 Stimulation of RANK Ligand Expression in Paget’s Disease of Bone

(2009) Kumaran Sundaram et al.   MOLECULAR ENDOCRINOLOGY

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

(2009) Estelle Chamoux et al.   MOLECULAR ENDOCRINOLOGY

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

Pathogenesis of Paget's disease of bone

(2008) Stuart H. Ralston   BONE

Genetic Epidemiology of Paget’s Disease of Bone in Italy: sequestosome1/p62 Gene Mutational Test and Haplotype Analysis at 5q35 in a Large Representative Series of Sporadic and Familial Italian Cases of Paget’s Disease of Bone

(2008) Alberto Falchetti et al.   CALCIFIED TISSUE INTERNATIONAL

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

Somatic Mutations inSQSTM1Detected in Affected Tissues From Patients With Sporadic Paget's Disease of Bone

(2008) Anand Merchant et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Failure to Detect Measles Virus Ribonucleic Acid in Bone Cells from Patients with Paget’s Disease

(2008) Brya G. Matthews et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Absence of Somatic SQSTM1 Mutations in Paget’s Disease of Bone

(2008) Brya G. Matthews et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Deubiquitinating enzyme CYLD negatively regulates RANK signaling and osteoclastogenesis in mice

(2008) Wei Jin et al.   JOURNAL OF CLINICAL INVESTIGATION

Ubiquitin signals autophagic degradation of cytosolic proteins and peroxisomes

(2008) P. K. Kim et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA