Varaico: Literature-Extracted Genetic Variants

Gene:IGF2BP2
Variant:p.P387L
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IGF2BP2

NM_006548.6:p.P387L

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

RNA binding proteins and the pathological cascade in ALS/FTD neurodegeneration.

Ito D et al.

Science Translational Medicine, 2017

SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.

Rea SL et al.

Experimental Cell Research, 2014

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

Chung PY et al.

Seminars in Arthritis and Rheumatism, 2012

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

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

Ubiquitin recognition by the ubiquitin-associated domain of p62 involves a novel conformational switch.

Long J et al.

The Journal of Biological Chemistry, 2008

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

Morissette J et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006

Clinical and cellular phenotypes associated with sequestosome 1 (SQSTM1) mutations.

Leach RJ et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006

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

Layfield R et al.

Biochemical Society Transactions, 2006

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.

Rea SL et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2006

Genetics of Paget's disease of bone.

Michou L et al.

Joint Bone Spine, 2006

Structural and functional studies of mutations affecting the UBA domain of SQSTM1 (p62) which cause Paget's disease of bone.

Layfield R et al.

Biochemical Society Transactions, 2004

Evaluation of the role of the SQSTM1 gene in sporadic Belgian patients with Paget's disease.

Beyens G et al.

Calcified Tissue International, 2004

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