Varaico: Literature-Extracted Genetic Variants

Gene:SQSTM1
Variant:p.D335E
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SQSTM1

NM_003900.5:p.D335E

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

Burden of Rare Variants in ALS and Axonal Hereditary Neuropathy Genes Influence Survival in ALS: Insights from a Next Generation Sequencing Study of an Italian ALS Cohort.

Scarlino S et al.

International Journal of Molecular Sciences, 2020

32397312 (PubMed )
Supplement: ijms-21-03346-s001.pdf

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

Alonso N et al.

Clinical Reviews in Bone and Mineral Metabolism, 2017

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

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

Chung PY et al.

Seminars in Arthritis and Rheumatism, 2012

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

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

Goode A et al.

Journal of Clinical Pathology, 2010

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.

Falchetti A et al.

Calcified Tissue International, 2009

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