Search Results - "Rea, Sarah"

Journal Article

The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis

by Foster, Adriana Rea, Sarah Published in Neural regeneration research (01.12.2020)

“...Amyotrophic lateral sclerosis and frontotemporal lobar degeneration are multifaceted diseases with genotypic, pathological and clinical overlap. One such...”

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Journal Article

Activate or Inhibit? Implications of Autophagy Modulation as a Therapeutic Strategy for Alzheimer’s Disease

by Krishnan, Sharmeelavathi Shrestha, Yasaswi Jayatunga, Dona P. W Rea, Sarah Martins, Ralph Bharadwaj, Prashant Published in International journal of molecular sciences (14.09.2020)

“...Neurodegenerative diseases result in a range of conditions depending on the type of proteinopathy, genes affected or the location of the degeneration in the...”

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Journal Article

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

by Britton, Cameron Brown, Suzanne Ward, Lynley Rea, Sarah L Ratajczak, Thomas Walsh, John P Published in Calcified tissue international (01.12.2017)

“...Studies from several countries suggest that the incidence of Paget’s disease of bone (PDB) and the severity of newly diagnosed cases are declining. The aim of...”

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Journal Article

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

by Albagha, Omar M.E Wani, Sachin E Visconti, Micaela R Alonso, Nerea Goodman, Kirsteen Brandi, Maria Luisa Cundy, Tim Chung, Pui Yan Jenny Dargie, Rosemary Devogelaer, Jean-Pierre Falchetti, Alberto Fraser, William D Gennari, Luigi Gianfrancesco, Fernando Hooper, Michael J van Hul, Wim Isaia, Gianluca Nicholson, Geoff C Nuti, Ranuccio Papapoulos, Socrates del Pino Montes, Javier Ratajczak, Thomas Rea, Sarah L Rendina, Domenico Gonzalez-Sarmiento, Roglio Di Stefano, Marco Ward, Lynley C Walsh, John P Ralston, Stuart H Karperien, Hermanus Bernardus Johannes Published in Nature genetics (2011)

“...Paget's disease of bone (PDB) is a common disorder characterized by focal abnormalities of bone remodeling. We previously identified variants at the CSF1, OPTN...”

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Journal Article

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

by Ward, Bryan K Rea, Sarah L Magno, Aaron L Pedersen, Bernadette Brown, Suzanne J Mullin, Shelby Arulpragasam, Ajanthy Ingley, Evan Conigrave, Arthur D Ratajczak, Thomas Published in Journal of cellular physiology (01.01.2018)

“...The mechanisms responsible for the processing and quality control of the calcium‐sensing receptor (CaSR) in the endoplasmic reticulum (ER) are largely unknown...”

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Journal Article

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

by Zhu, Sipin Rea, Sarah L Cheng, Taksum Feng, Hao Tian Walsh, John P Ratajczak, Thomas Tickner, Jennifer Pavlos, Nathan Xu, Hua‐Zi Xu, Jiake Published in Journal of cellular biochemistry (01.06.2016)

“...ABSTRACT Vacuolar proton pump H+‐adenosine triphosphatases (V‐ATPases) play an important role in osteoclast function. Further understanding of the cellular and...”

Journal Article

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

by Albagha, Omar ME Visconti, Micaela Rios Alonso, Nerea Wani, Sachin Goodman, Kirsteen Fraser, William D Gennari, Luigi Merlotti, Daniela Gianfrancesco, Fernando Esposito, Teresa Rendina, Domenico di Stefano, Marco Isaia, Giancarlo Brandi, Maria Luisa Giusti, Francesca Del Pino‐Montes, Javier Corral‐Gudino, Luis Gonzalez‐Sarmiento, Rogelio Ward, Lynley Rea, Sarah L Ratajczak, Thomas Walsh, John P Ralston, Stuart H Published in Journal of bone and mineral research (01.11.2013)

“...ABSTRACT Paget's disease of bone (PDB) has a strong genetic component. Here, we investigated possible associations between genetic variants that predispose to...”

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Journal Article

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

by Rea, Sarah L Majcher, Veronika Searle, Mark S Layfield, Rob Published in Experimental cell research (01.07.2014)

“...Paget disease of bone (PDB) is a skeletal disorder common in Western Europe but extremely rare in the Indian subcontinent and Far East. The condition has a...”

Journal Article

Disulfiram Attenuates Osteoclast Differentiation In Vitro: A Potential Antiresorptive Agent

by Ying, Hua Qin, An Cheng, Tak S Pavlos, Nathan J Rea, Sarah Dai, Kerong Zheng, Ming H
edited by Heymann, Dominique
Published in PloS one (2015-00-00)

“...Disulfiram (DSF), a cysteine modifying compound, has long been clinically employed for the treatment of alcohol addiction. Mechanistically, DSF acts as a...”

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Journal Article

ALS-FTLD associated mutations of SQSTM1 impact on Keap1-Nrf2 signalling

by Goode, Alice Rea, Sarah Sultana, Melanie Shaw, Barry Searle, Mark S Layfield, Robert Published in Molecular and cellular neurosciences (01.10.2016)

“...The transcription factor Nrf2 and its repressor protein Keap1 play key roles in the regulation of antioxidant stress responses and both Keap1-Nrf2 signalling...”

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Journal Article

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

by Rea, Sarah L Walsh, John P Layfield, Robert Ratajczak, Thomas Xu, Jiake Published in Endocrine reviews (01.08.2013)

“...Paget's disease of bone (PDB) is characterized by focal areas of aberrant and excessive bone turnover, specifically increased bone resorption and disorganized...”

Journal Article

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

by Cluning, Carmel Ward, Bryan K Rea, Sarah L Arulpragasam, Ajanthy Fuller, Peter J Ratajczak, Thomas Published in Molecular endocrinology (Baltimore, Md.) (01.07.2013)

“...The heat-shock protein 90 (Hsp90) cochaperone FK506-binding protein 52 (FKBP52) upregulates, whereas FKBP51 inhibits, hormone binding and nuclear targeting of...”

Journal Article

Bafilomycin A1 Attenuates Osteoclast Acidification and Formation, Accompanied by Increased Levels of SQSTM1/p62 Protein: BAFILOMYCINA1 ATTENUATESOSTEOCLASTACIDIFICATIONANDFORMATION

by Zhu, Sipin Rea, Sarah L Cheng, Taksum Feng, Hao Tian Walsh, John P Ratajczak, Thomas Tickner, Jennifer Pavlos, Nathan Xu, Hua-Zi Xu, Jiake Published in Journal of cellular biochemistry (01.06.2016)

Journal Article

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

by Goode, Alice Long, Jed E Shaw, Barry Ralston, Stuart H Visconti, Micaela Rios Gianfrancesco, Fernando Esposito, Teresa Gennari, Luigi Merlotti, Daniela Rendina, Domenico Rea, Sarah L Sultana, Melanie Searle, Mark S Layfield, Robert Published in Biochimica et biophysica acta. Molecular basis of disease (01.07.2014)

“...SQSTM1 mutations are common in patients with Paget disease of bone (PDB), with most affecting the C-terminal ubiquitin-associated (UBA) domain of the SQSTM1...”

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Journal Article

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

by Ang, Estabelle Pavlos, Nathan J Rea, Sarah L Qi, Ming Chai, Tracy Walsh, John P Ratajczak, Thomas Zheng, Ming H Xu, Jiake Published in Journal of cellular physiology (01.08.2009)

“...Proteasome inhibitors represent a promising therapy for the treatment of relapsed and/or refractory multiple myeloma, a disease that is concomitant with...”

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Journal Article

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

by Wright, Tao Rea, Sarah L Goode, Alice Bennett, Andrew J Ratajczak, Thomas Long, Jed E Searle, Mark S Goldring, Christopher E Park, B. Kevin Copple, Ian M Layfield, Robert Published in Bone (New York, N.Y.) (2012)

“...Abstract Mutations affecting the Sequestosome 1 (SQSTM1) gene commonly occur in patients with the skeletal disorder Paget's disease of bone (PDB), a condition...”

Journal Article

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...

by Rea, Sarah L Walsh, John P Ward, Lynley Magno, Aaron L Ward, Bryan K Shaw, Barry Layfield, Robert Kent, G Neil Xu, Jiake Ratajczak, Thomas Published in Journal of bone and mineral research (01.07.2009)

“...Previously reported Sequestosome 1(SQSTM1)/p62 gene mutations associated with Paget's disease of bone (PDB) cluster in, or cause deletion of, the...”

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Journal Article

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

by Rea, Sarah L Walsh, John P Ward, Lynley Yip, Kirk Ward, Bryan K Kent, G Neil Steer, James H Xu, Jiake Ratajczak, Thomas Published in Journal of bone and mineral research (01.07.2006)

“...Sequestosome 1/p62 (p62) mutations are associated with PDB; however, there are limited data regarding functional consequences. We report a novel mutation in...”

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Journal Article

Common susceptibility alleles andSQSTM1mutations predict disease extent and severity in a multinational study of patients with Paget's disease: GENETIC MARKERS AND SEVERITY OF PAGE...

by Albagha, Omar ME Visconti, Micaela Rios Alonso, Nerea Wani, Sachin Goodman, Kirsteen Fraser, William D Gennari, Luigi Merlotti, Daniela Gianfrancesco, Fernando Esposito, Teresa Rendina, Domenico di Stefano, Marco Isaia, Giancarlo Brandi, Maria Luisa Giusti, Francesca Del Pino-Montes, Javier Corral-Gudino, Luis Gonzalez-Sarmiento, Rogelio Ward, Lynley Rea, Sarah L Ratajczak, Thomas Walsh, John P Ralston, Stuart H Published in Journal of bone and mineral research (01.11.2013)

Dissertation

Functional significance of Sequestosome 1 (SQSTM1/p62) mutations in Paget's disease of bone Download PDF

by Rea, Sarah
2010

“...[Truncated abstract] Paget's disease of bone (PDB) is a common bone disorder. Recently, mutations within the Sequestosome 1(SQSTM1) gene have been identified...”

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