Associated Papers
Atypical Frontotemporal Dementia Associated With SQSTM1 Gene Mutation: A Clinicopathological Case.
Espinoza-Vinces C et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2025
The genetic landscape of frontotemporal lobar degeneration: investigation of a diagnostic cohort of 2747 probands.
Cogan G et al.
Brain : a Journal of Neurology, 2025
Mutations in Osteoclast Genes as Causes of Osteoclast-Related Diseases.
Živković JM et al.
Dna and Cell Biology, 2025
ANXA11 Mutations in the FTD Spectrum: A Novel Finding in a Patient With Semantic Variant Primary Progressive Aphasia.
Meng Y et al.
European Journal of Neurology, 2025
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Genetic variability in sporadic amyotrophic lateral sclerosis.
Van Daele SH et al.
Brain : a Journal of Neurology, 2023
Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.
Chompoopong P et al.
Annals of Clinical and Translational Neurology, 2023
Revealing the Mutational Spectrum in Southern Africans With Amyotrophic Lateral Sclerosis.
Nel M et al.
Neurology. Genetics, 2022
Semantic and right temporal variant of FTD: Next generation sequencing genetic analysis on a single-center cohort.
Rossi G et al.
Frontiers in Aging Neuroscience, 2022
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
SQSTM1 variant in disorders of the frontotemporal dementia-amyotrophic lateral sclerosis spectrum: identification of a novel heterozygous variant and a review of the literature.
Li W et al.
Journal of Neurology, 2021
Pattern of SQSTM1 Gene Variants in a Hungarian Cohort of Paget's Disease of Bone.
Donáth J et al.
Calcified Tissue International, 2021
The role of sequestosome 1/p62 protein in amyotrophic lateral sclerosis and frontotemporal dementia pathogenesis.
Foster AD et al.
Neural Regeneration Research, 2020
Workflow for the Implementation of Precision Genomics in Healthcare.
Mehandziska S et al.
Frontiers in Genetics, 2020
Molecular insights into an ancient form of Paget's disease of bone.
Shaw B et al.
Proceedings of the National Academy of Sciences of the United States of America, 2019
Identification of rare genetic variants in Italian patients with dementia by targeted gene sequencing.
Bartoletti-Stella A et al.
Neurobiology of Aging, 2018
RNA binding proteins and the pathological cascade in ALS/FTD neurodegeneration.
Ito D et al.
Science Translational Medicine, 2017
Clinical and Genetic Advances in Paget's Disease of Bone: a Review.
Alonso N et al.
Clinical Reviews in Bone and Mineral Metabolism, 2017
Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations.
Luis E et al.
Journal of Alzheimer's Disease : Jad, 2016
[Association between VAPB mutations and familial amyotrophic lateral sclerosis in Chinese patients].
Zhang H et al.
Zhonghua Yi Xue Za Zhi, 2015
Genetic variability in SQSTM1 and risk of early-onset Alzheimer dementia: a European early-onset dementia consortium study.
Cuyvers E et al.
Neurobiology of Aging, 2015
Six SQSTM1 mutations in a Chinese amyotrophic lateral sclerosis cohort.
Yang Y et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2015
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration.
van der Zee J et al.
Acta Neuropathologica, 2014
SQSTM1 mutations--bridging Paget disease of bone and ALS/FTLD.
Rea SL et al.
Experimental Cell Research, 2014
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
SQSTM1 mutations in French patients with frontotemporal dementia or frontotemporal dementia with amyotrophic lateral sclerosis.
Le Ber I et al.
Jama Neurology, 2013
SQSTM1 mutations in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
Rubino E et al.
Neurology, 2012
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
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
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
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
Disruption of ubiquitin-mediated processes in diseases of the brain and bone.
Layfield R et al.
Biochemical Society Transactions, 2008
Sequestosome 1 (SQSTM1) mutations in Paget's disease of bone from the United States.
Rhodes EC et al.
Calcified Tissue International, 2008
Ubiquitin recognition by the ubiquitin-associated domain of p62 involves a novel conformational switch.
Long J et al.
The Journal of Biological Chemistry, 2008
Ubiquitin-mediated signalling and Paget's disease of bone.
Layfield R et al.
Bmc Biochemistry, 2007
Paget's disease of bone in the French population: novel SQSTM1 mutations, functional analysis, and genotype-phenotype correlations.
Collet C et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2007
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
Identification and molecular characterization of a novel splice-site mutation (G1205C) in the SQSTM1 gene causing Paget's disease of bone in an extended American family.
Beyens G et al.
Calcified Tissue International, 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
Loss of ubiquitin binding is a unifying mechanism by which mutations of SQSTM1 cause Paget's disease of bone.
Cavey JR et al.
Calcified Tissue International, 2006
Mechanisms of disease: genetics of Paget's disease of bone and related disorders.
Daroszewska A et al.
Nature Clinical Practice. Rheumatology, 2006
SQSTM1 and Paget's disease of bone.
Layfield R et al.
Calcified Tissue International, 2004