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SQSTM1 mutations – Bridging Paget disease of bone and ALS/FTLD

Experimental cell research, 2014-07, Vol.325 (1), p.27-37

2014

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The SQSTM1/p62 UBA domain regulates Ajuba localisation, degradation and NF-κB signalling function

PloS one, 2021-11, Vol.16 (11), p.e0259556-e0259556

2021

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Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function

Biochimica et biophysica acta, 2014-07, Vol.1842 (7), p.992-1000

2014

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New Insights Into the Role of Sequestosome 1/p62 Mutant Proteins in the Pathogenesis of Paget's Disease of Bone

Endocrine reviews, 2013-08, Vol.34 (4), p.501-524

2013

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The Changing Presentation of Paget’s Disease of Bone in Australia, A High Prevalence Region

Calcified tissue international, 2017-12, Vol.101 (6), p.564-569

2017

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Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget's disease of bone

Annals of the rheumatic diseases, 2024-04, Vol.83 (4), p.529

2024

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The endoplasmic reticulum‐associated protein, OS‐9, behaves as a lectin in targeting the immature calcium‐sensing receptor

Journal of cellular physiology, 2018-01, Vol.233 (1), p.38-56

2018

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The Helix 1-3 Loop in the Glucocorticoid Receptor LBD Is a Regulatory Element for FKBP Cochaperones

Molecular endocrinology (Baltimore, Md.), 2013-07, Vol.27 (7), p.1020-1035

2013

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Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease

Journal of bone and mineral research, 2013-11, Vol.28 (11), p.2338-2346

2013

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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

Journal of bone and mineral research, 2009-07, Vol.24 (7), p.1216-1223

2009

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Bafilomycin A1 Attenuates Osteoclast Acidification and Formation, Accompanied by Increased Levels of SQSTM1/p62 Protein

Journal of cellular biochemistry, 2016-06, Vol.117 (6), p.1464-1470

2016

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A Novel Mutation (K378X) in the Sequestosome 1 Gene Associated With Increased NF‐κB Signaling and Paget's Disease of Bone With a Severe Phenotype

Journal of bone and mineral research, 2006-07, Vol.21 (7), p.1136-1145

2006

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The S349T mutation of SQSTM1 links Keap1/Nrf2 signalling to Paget's disease of bone

Bone (New York, N.Y.), 2013-02, Vol.52 (2), p.699-706

2013

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The SQSTM1/p62 UBA domain regulates Ajuba localisation, degradation and NF-[kappa]B signalling function

PloS one, 2021-11, Vol.16 (11), p.e0259556

2021

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Proteasome inhibitors impair RANKL-induced NF-κB activity in osteoclast-like cells via disruption of p62, TRAF6, CYLD, and IκBα signaling cascades

Journal of cellular physiology, 2009-08, Vol.220 (2), p.450-459

2009

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The SQSTM1/p62 UBA domain regulates Ajuba localisation, degradation and NF-κB signalling function

PloS one, 2021-01, Vol.16 (11), p.e0259556

2021

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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-KB Signaling Without Loss of Ubiquitin Binding

Journal of bone and mineral research, 2009, Vol.24 (7), p.1216-1223

2009

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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

Journal of bone and mineral research, 2006-07, Vol.21 (7), p.1136-1145

2006

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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

Journal of bone and mineral research, 2009-07, Vol.24 (7), p.1216-1223

2009

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Mutant SQSTM1/p62 Signaling in Paget’s Disease of Bone

Advances in Pathobiology and Management of Paget's Disease of Bone, 2016

Reddy, Sakamuri V

2016

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Proteasome inhibitors impair RANKL-induced NF-kappaB activity in osteoclast-like cells via disruption of p62, TRAF6, CYLD, and IkappaBalpha signaling cascades

Journal of cellular physiology, 2009-08, Vol.220 (2), p.450-459

2009

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Chapter 5 - Mutant SQSTM1/p62 Signaling in Paget’s Disease of Bone

Advances in Pathobiology and Management of Paget’s Disease of Bone, 2016, p.55-70

2016

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SQSTM 1 mutations - Bridging Paget disease of bone and ALS/FTLD

Experimental Cell Research, 2014, Vol.325 (1), p.27

2014

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Telecare for diabetes, CHF or COPD: effect on quality of life, hospital use and costs. A randomised controlled trial and qualitative evaluation

PloS one, 2015-03, Vol.10 (3), p.e0116188

2015

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SQSTM1 mutations – Bridging Paget disease of bone and ALS/FTLD

The SQSTM1/p62 UBA domain regulates Ajuba localisation, degradation and NF-κB signalling function

Paget disease of bone-associated UBA domain mutations of SQSTM1 exert distinct effects on protein structure and function

New Insights Into the Role of Sequestosome 1/p62 Mutant Proteins in the Pathogenesis of Paget's Disease of Bone

The Changing Presentation of Paget’s Disease of Bone in Australia, A High Prevalence Region

Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget's disease of bone

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

The endoplasmic reticulum‐associated protein, OS‐9, behaves as a lectin in targeting the immature calcium‐sensing receptor

The Helix 1-3 Loop in the Glucocorticoid Receptor LBD Is a Regulatory Element for FKBP Cochaperones

Common susceptibility alleles and SQSTM1 mutations predict disease extent and severity in a multinational study of patients with Paget's disease

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

Bafilomycin A1 Attenuates Osteoclast Acidification and Formation, Accompanied by Increased Levels of SQSTM1/p62 Protein

A Novel Mutation (K378X) in the Sequestosome 1 Gene Associated With Increased NF‐κB Signaling and Paget's Disease of Bone With a Severe Phenotype

The S349T mutation of SQSTM1 links Keap1/Nrf2 signalling to Paget's disease of bone

The SQSTM1/p62 UBA domain regulates Ajuba localisation, degradation and NF-[kappa]B signalling function

Proteasome inhibitors impair RANKL-induced NF-κB activity in osteoclast-like cells via disruption of p62, TRAF6, CYLD, and IκBα signaling cascades

The SQSTM1/p62 UBA domain regulates Ajuba localisation, degradation and NF-κB signalling function

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-KB Signaling Without Loss of Ubiquitin Binding

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

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

Mutant SQSTM1/p62 Signaling in Paget’s Disease of Bone

Proteasome inhibitors impair RANKL-induced NF-kappaB activity in osteoclast-like cells via disruption of p62, TRAF6, CYLD, and IkappaBalpha signaling cascades

Chapter 5 - Mutant SQSTM1/p62 Signaling in Paget’s Disease of Bone

SQSTM 1 mutations - Bridging Paget disease of bone and ALS/FTLD

Telecare for diabetes, CHF or COPD: effect on quality of life, hospital use and costs. A randomised controlled trial and qualitative evaluation

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