(Q52610346)

4 May 2018

title

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

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4 May 2018

author

Rob J van 't Hof

2

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4 May 2018

Robert Layfield

4

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4 May 2018

Stuart H Ralston

8

object named as

Stuart H Ralston

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4 May 2018

author name string

Anna Daroszewska

1

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4 May 2018

Javier A Rojas

3

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4 May 2018

Euphemie Landao-Basonga

5

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4 May 2018

Lorraine Rose

6

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4 May 2018

Ken Rose

7

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4 May 2018

publication date

21 April 2011

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4 May 2018

published in

Human Molecular Genetics

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4 May 2018

volume

20

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4 May 2018

issue

14

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4 May 2018

page(s)

2734-2744

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4 May 2018

Pathogenesis and management of Paget's disease of bone.

cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Recurrent mutation of the gene encoding sequestosome 1 (SQSTM1/p62) in Paget disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

p62 at the crossroads of autophagy, apoptosis, and cancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Novel UBA domain mutations of SQSTM1 in Paget's disease of bone: genotype phenotype correlation, functional analysis, and structural consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

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-kappaB signaling without loss of ubiquitin binding.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Three Novel Mutations in SQSTM1 Identified in Familial Paget's Disease of Bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

A novel mutation (K378X) in the sequestosome 1 gene associated with increased NF-kappaB signaling and Paget's disease of bone with a severe phenotype

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

The p62 P392L mutation linked to Paget's disease induces activation of human osteoclasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Sequestosome 1: mutation frequencies, haplotypes, and phenotypes in familial Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Paget's disease of bone in New Zealand: continued decline in disease severity.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

The epidemiology of Paget's disease in Britain: is the prevalence decreasing?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

21 January 2018

Paget disease of bone

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Nuclear inclusions in Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Ultrastructural features of the osteoclasts from Paget's disease of bone in relation to a viral aetiology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Familial Paget's disease in The Netherlands: occurrence, identification of new mutations in the sequestosome 1 gene, and their clinical associations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Subacute sclerosing panencephalitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Laforin, the most common protein mutated in Lafora disease, regulates autophagy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Loss of autophagy in the central nervous system causes neurodegeneration in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

A Nonsynonymous SNP in ATG16L1 Predisposes to Ileal Crohn’s Disease and Is Independent of CARD15 and IBD5

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Regulation of mammalian autophagy in physiology and pathophysiology.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Mammalian macroautophagy at a glance

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Paget's disease in a treadle machine operator

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Somatic mutations in SQSTM1 detected in affected tissues from patients with sporadic Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Characteristics and familial aggregation of Paget's disease of bone in Italy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

The atypical PKC-interacting protein p62 is an important mediator of RANK-activated osteoclastogenesis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Mutation of the sequestosome 1 (p62) gene increases osteoclastogenesis but does not induce Paget disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Aminobisphosphonates cause osteoblast apoptosis and inhibit bone nodule formation in vitro.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Domain-specific mutations in sequestosome 1 (SQSTM1) cause familial and sporadic Paget's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Loss of Ubiquitin Binding Is a Unifying Mechanism by Which Mutations of SQSTM1 Cause Paget’s Disease of Bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

A Negative Search for a Paramyxoviral Etiology of Paget's Disease of Bone: Molecular, Immunological, and Ultrastructural Studies in U.K. Patients

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

p62 mutations, ubiquitin recognition and Paget's disease of bone

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

Animal models of bone metastasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDR172

21 January 2018

Identifiers

DOI

10.1093/HMG/DDR172

1 reference

4 May 2018

1 reference

4 May 2018