Evaluation of the role of Valosin-containing protein in the pathogenesis of familial and sporadic Paget's disease of bone.

[1]  Mark Daly,et al.  Haploview: analysis and visualization of LD and haplotype maps , 2005, Bioinform..

[2]  L. Hocking,et al.  Loss of Ubiquitin‐Binding Associated With Paget's Disease of Bone p62 (SQSTM1) Mutations , 2004, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[3]  L. Hocking,et al.  Novel UBA Domain Mutations of SQSTM1 in Paget's Disease of Bone: Genotype Phenotype Correlation, Functional Analysis, and Structural Consequences , 2004, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[4]  M. Brandi,et al.  Two Novel Mutations at Exon 8 of the Sequestosome 1 (SQSTM1) Gene in an Italian Series of Patients Affected by Paget's Disease of Bone (PDB) , 2004, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[5]  A. Zwinderman,et al.  Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations. , 2004, Arthritis and rheumatism.

[6]  A. Pestronk,et al.  Inclusion body myopathy associated with Paget disease of bone and frontotemporal dementia is caused by mutant valosin-containing protein , 2004, Nature Genetics.

[7]  Manuel Serrano,et al.  The atypical PKC-interacting protein p62 is an important mediator of RANK-activated osteoclastogenesis. , 2004, Developmental cell.

[8]  Toshihiro Tanaka The International HapMap Project , 2003, Nature.

[9]  P. Woodman p97, a protein coping with multiple identities , 2003, Journal of Cell Science.

[10]  M. Hansen,et al.  Three Novel Mutations in SQSTM1 Identified in Familial Paget's Disease of Bone , 2003, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[11]  L. Hocking,et al.  Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease. , 2002, Human molecular genetics.

[12]  Jacques P. Brown,et al.  Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone. , 2002, American journal of human genetics.

[13]  C. Cooper,et al.  Incidence and Natural History of Paget's Disease of Bone in England and Wales , 2002, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[14]  D. Duffy,et al.  Linkage of Paget disease of bone to a novel region on human chromosome 18q23. , 2002, American journal of human genetics.

[15]  Mark A. Levenstien,et al.  Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. , 2001, Molecular genetics and metabolism.

[16]  S. Jentsch,et al.  Mobilization of Processed, Membrane-Tethered SPT23 Transcription Factor by CDC48UFD1/NPL4, a Ubiquitin-Selective Chaperone , 2001, Cell.

[17]  L. Hocking,et al.  Genomewide search in familial Paget disease of bone shows evidence of genetic heterogeneity with candidate loci on chromosomes 2q36, 10p13, and 5q35. , 2001, American journal of human genetics.

[18]  J. Morissette,et al.  Paget disease of bone: mapping of two loci at 5q35-qter and 5q31. , 2001, American journal of human genetics.

[19]  Chou-Chi H. Li,et al.  Valosin-containing protein is a multi-ubiquitin chain-targeting factor required in ubiquitin–proteasome degradation , 2001, Nature Cell Biology.

[20]  J Lowe,et al.  The ubiquitin protein catabolic disorders , 2001, Neuropathology and applied neurobiology.

[21]  P. Donnelly,et al.  A new statistical method for haplotype reconstruction from population data. , 2001, American journal of human genetics.

[22]  D. Longo,et al.  Involvement of Valosin-containing Protein, an ATPase Co-purified with IκBα and 26 S Proteasome, in Ubiquitin-Proteasome-mediated Degradation of IκBα* , 1998, The Journal of Biological Chemistry.

[23]  G. López-Abente,et al.  Frequency and characteristics of familial aggregation of paget's disease of bone , 1995, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[24]  J. Kelsey,et al.  Familial aggregation of paget's disease of bone , 1991, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

[25]  A. Emery,et al.  A family study of Paget's disease of bone. , 1983, Journal of epidemiology and community health.