Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.
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Segregation of a M404V mutation of the p62/sequestosome 1 (p62/SQSTM1) gene with polyostotic Paget's disease of bone in an Italian family.Ubiquitin recognition by the ubiquitin-associated domain of p62 involves a novel conformational switchNeighbor of Brca1 gene (Nbr1) functions as a negative regulator of postnatal osteoblastic bone formation and p38 MAPK activityPaget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and functionProtocol for stage 1 of the GaP study (Genetic testing acceptability for Paget's disease of bone): an interview study about genetic testing and preventive treatment: would relatives of people with Paget's disease want testing and treatment if they wUbiquitin-mediated signalling and Paget's disease of bone.Protocol for stage 2 of the GaP study (genetic testing acceptability for Paget's disease of bone): a questionnaire study to investigate whether relatives of people with Paget's disease would accept genetic testing and preventive treatment if they weSomatic mutations in SQSTM1 detected in affected tissues from patients with sporadic Paget's disease of bone.Paget's disease of bone and genetic disorders of RANKL/OPG/RANK/NF-kappaB signaling.Osteosarcoma in Paget's disease of bone.Detection of SQSTM1/P392L post-zygotic mutations in Paget's disease of bone.p62 ubiquitin binding-associated domain mediated the receptor activator of nuclear factor-kappaB ligand-induced osteoclast formation: a new insight into the pathogenesis of Paget's disease of bone.Paget disease of bone.Mechanisms of disease: genetics of Paget's disease of bone and related disorders.Contribution of genetic factors to the pathogenesis of Paget's disease of bone and related disorders.Receptor activator of nuclear factor kappaB ligand and osteoprotegerin regulation of bone remodeling in health and disease.Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.Clinical and Genetic Advances in Paget's Disease of Bone: a Review.Pathogenesis of Paget disease of bone.Paget's disease of bone: clinical review and update.Republished: Paget's disease of bone: clinical review and update.SQSTM1/p62 regulates the expression of junctional proteins through epithelial-mesenchymal transition factors.Thirteen Chinese patients with sporadic Paget's disease of bone: clinical features, SQSTM1 mutation identification, and functional analysis.The p62 scaffold regulates nerve growth factor-induced NF-kappaB activation by influencing TRAF6 polyubiquitination.SQSTM1 splice site mutation in distal myopathy with rimmed vacuoles.Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone.Epidemiological, clinical, and genetic characteristics of Paget's disease of bone in a rural area of Calabria, Southern Italy.Familial Paget disease and SQSTM1 mutations in New Zealand.Mutant p62/SQSTM1 UBA domains linked to Paget's disease of bone differ in their abilities to function as stabilization signals.The Changing Presentation of Paget's Disease of Bone in Australia, A High Prevalence Region.Genetic association study of Dickkopf-1 and sclerostin genes with paget disease of bone.Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease.Genetic variation in the TNFRSF11A gene encoding RANK is associated with susceptibility to Paget's disease of bone.A point mutation in the ubiquitin-associated domain of SQSMT1 is sufficient to cause a Paget's disease-like disorder in mice.Autophagy: a new player in skeletal maintenance?p62/sequestosome 1 deficiency accelerates osteoclastogenesis in vitro and leads to Paget's disease-like bone phenotypes in mice.
P2860
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P2860
Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences.
description
2004 nî lūn-bûn
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2004年の論文
@ja
2004年学术文章
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2004年学术文章
@zh
2004年学术文章
@zh-cn
2004年学术文章
@zh-hans
2004年学术文章
@zh-my
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2004年學術文章
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name
Novel UBA domain mutations of ...... , and structural consequences.
@en
Novel UBA domain mutations of ...... , and structural consequences.
@nl
type
label
Novel UBA domain mutations of ...... , and structural consequences.
@en
Novel UBA domain mutations of ...... , and structural consequences.
@nl
prefLabel
Novel UBA domain mutations of ...... , and structural consequences.
@en
Novel UBA domain mutations of ...... , and structural consequences.
@nl
P2093
P50
P356
P1476
Novel UBA domain mutations of ...... , and structural consequences.
@en
P2093
Anna Daroszewska
Catriona Finlayson
Gavin J A Lucas
Judit Donath
Paul W Sheppard
Stuart H Ralston
P304
P356
10.1359/JBMR.0403015
P50
P577
2004-03-22T00:00:00Z