Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.P364S
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SQSTM1

NM_003900.5:p.P364S

Associated Papers

Molecular modelling and dynamic simulations of sequestosome 1 (SQSTM1) missense mutations linked to Paget disease of bone.

Shaik NA et al.

Journal of Biomolecular Structure & Dynamics, 2021

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

Foster AD et al.

Neural Regeneration Research, 2020

Clinical and Genetic Advances in Paget's Disease of Bone: a Review.

Alonso N et al.

Clinical Reviews in Bone and Mineral Metabolism, 2017

Sequestosome-1 (SQSTM1) sequence variants in ALS cases in the UK: prevalence and coexistence of SQSTM1 mutations in ALS kindred with PDB.

Kwok CT et al.

European Journal of Human Genetics : Ejhg, 2014

New insights into the role of sequestosome 1/p62 mutant proteins in the pathogenesis of Paget's disease of bone.

Rea SL et al.

Endocrine Reviews, 2013

Thirteen Chinese patients with sporadic Paget's disease of bone: clinical features, SQSTM1 mutation identification, and functional analysis.

Gu JM et al.

Journal of Bone and Mineral Metabolism, 2012

Paget's disease of bone: evidence for complex pathogenetic interactions.

Chung PY et al.

Seminars in Arthritis and Rheumatism, 2012

Familial Paget disease and SQSTM1 mutations in New Zealand.

Cundy T et al.

Calcified Tissue International, 2011

Genetic aspects of the Paget's disease of bone: concerns on the introduction of DNA-based tests in the clinical practice. Advantages and disadvantages of its application.

Falchetti A et al.

European Journal of Clinical Investigation, 2010

SQSTM1 gene analysis and gene-environment interaction in Paget's disease of bone.

Gennari L et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2010

Recent advances in understanding the molecular basis of Paget disease of bone.

Goode A et al.

Journal of Clinical Pathology, 2010

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.

Rea SL et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2009

Characterization of a non-UBA domain missense mutation of sequestosome 1 (SQSTM1) in Paget's disease of bone.

Najat D et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."