Associated Papers
p62/SQSTM1 Condensation Modulates Mitochondrial Clustering to Participate in Mitochondrial Quality Control.
Sun S et al.
Aging Cell, 2026
Genetic contributions to Alzheimer's disease and frontotemporal dementia in admixed Latin American populations.
Acosta-Uribe J et al.
Npj Dementia, 2026
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
Mutations in Osteoclast Genes as Causes of Osteoclast-Related Diseases.
Živković JM et al.
Dna and Cell Biology, 2025
Advances in the genetics of Paget's disease of bone: from pathophysiology, diagnosis to clinical implications.
Michou L et al.
Expert Review of Endocrinology & Metabolism, 2025
Shared burden of ultra-rare genetic variants across a spectrum of motor neuron diseases.
Wu G et al.
Translational Neurodegeneration, 2025
Deciphering ALS-linked genetic variants in indian patients using targeted and exome sequencing approaches.
Reza S et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
Inborn errors of canonical autophagy in neurodegenerative diseases.
Freisem D et al.
Human Molecular Genetics, 2025
A case of an ALS patient with an SQSTM1 mutation - implications for the p62/NF-κB/Nrf2/autophagy pathways in the selection of individualised therapeutic strategies: a preliminary report.
Żur-Wyrozumska K
Folia Medica Cracoviensia, 2025
Clinical phenotype of frontotemporal dementia associated with the Pro392Leu SQSTM1 mutation.
Roa-Escobar J et al.
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2025
The genetics of motor neuron disease in New Zealand.
Mrkela M et al.
Journal of the Neurological Sciences, 2025
Translating Muscle RNAseq Into the Clinic for the Diagnosis of Muscle Diseases.
Segarra-Casas A et al.
Annals of Clinical and Translational Neurology, 2025
Atypical Ocular Myasthenia-Like Presentation in a Patient With a Heterozygous SQSTM1 Variant.
Sanchez-Cordero MM et al.
Cureus, 2025
Genetic Contributions to Alzheimer's Disease and Frontotemporal Dementia in Admixed Latin American Populations.
Acosta-Uribe J et al.
Research Square, 2025
The molecular landscape of hereditary ataxia: a single-center study.
Bregant E et al.
Human Genetics, 2025
Hypermobile Ehlers-Danlos Syndrome: Diagnostic Challenges and the Role of Genetic Testing.
Forghani I et al.
Genes, 2025
TDP-43 seeding activity in the olfactory mucosa of patients with amyotrophic lateral sclerosis.
Vizziello M et al.
Molecular Neurodegeneration, 2025
Targeting mitophagy in neurodegenerative diseases.
Antico O et al.
Nature Reviews. Drug Discovery, 2025
A microglia clonal inflammatory disorder in Alzheimer's disease.
Vicario R et al.
Elife, 2025
Opportunistic genomic screening has clinical utility: An interventional cohort study.
Mighton C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Development of Paget's disease of bone in adults inheriting SQSTM1 mutations: a long-term follow-up.
O'Sullivan S et al.
Jbmr Plus, 2025
The role of autophagy in the pathogenesis and treatment of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
Beckers J et al.
Autophagy Reports, 2025
Leveraging large-scale multi-omics evidences to identify therapeutic targets from genome-wide association studies.
Lessard S et al.
Bmc Genomics, 2024
Identification of Genetic Variants in Progressive Supranuclear Palsy in Southeast Asia.
Ng ASL et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2024
Genotype-phenotype correlation of SQSTM1 variants in patients with amyotrophic lateral sclerosis.
Wang S et al.
Journal of Medical Genetics, 2024
Defining the landscape of TIA1 and SQSTM1 digenic myopathy.
Panos-Basterra P et al.
Neuromuscular Disorders : Nmd, 2024
Genetic Associations With an Amyotrophic Lateral Sclerosis Reversal Phenotype.
Crayle JI et al.
Neurology, 2024
ALS Identified: two-year findings from a sponsored ALS genetic testing program.
Goutman SA et al.
Annals of Clinical and Translational Neurology, 2024
Urolithin A promotes p62-dependent lysophagy to prevent acute retinal neurodegeneration.
Jiménez-Loygorri JI et al.
Molecular Neurodegeneration, 2024
SQSTM1 Pro392Leu presenting as a corticobasal syndrome with progressive nonfluent aphasia.
Tábuas-Pereira M et al.
Parkinsonism & Related Disorders, 2024
TARDBP Mutations in Facial-Onset Sensory and Motor Neuronopathy.
Picher-Martel V et al.
Neurology. Genetics, 2024
Germline mutations in cancer predisposition genes among pediatric patients with cancer and congenital anomalies.
Dangoni GD et al.
Pediatric Research, 2024
Randomised trial of genetic testing and targeted intervention to prevent the development and progression of Paget's disease of bone.
Phillips J et al.
Annals of the Rheumatic Diseases, 2024
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience.
Beltcheva O et al.
Nephron, 2024
Distal myopathy due to digenic inheritance of TIA1 and SQSTM1 variants in two unrelated Spanish patients.
Bermejo-Guerrero L et al.
Neuromuscular Disorders : Nmd, 2023
A Double Hit to Ubiquitination Leading to a New Diagnosis of VEXAS Syndrome.
Pozdniakova H et al.
Journal of Medical Cases, 2023
Paget's Disease of the Bone and Lynch Syndrome: An Exceptional Finding.
Gheorghe AM et al.
Diagnostics (basel, Switzerland), 2023
SQSTM1 Mutation Presenting as a Progressive Supranuclear Palsy Mimic.
Yu CH et al.
Movement Disorders Clinical Practice, 2023
Multisystem proteinopathies (MSPs) and MSP-like disorders: Clinical-pathological-molecular spectrum.
Chompoopong P et al.
Annals of Clinical and Translational Neurology, 2023
Aged G Protein-Coupled Receptor Kinase 3 (Grk3)-Deficient Mice Exhibit Enhanced Osteoclastogenesis and Develop Bone Lesions Analogous to Human Paget's Disease of Bone.
Rabjohns EM et al.
Cells, 2023
A mutation in the ZNF687 gene that is responsible for the severe form of Paget's disease of bone causes severely altered bone remodeling and promotes hepatocellular carcinoma onset in a knock-in mouse model.
Russo S et al.
Bone Research, 2023
The selective autophagy adaptor p62/SQSTM1 forms phase condensates regulated by HSP27 that facilitate the clearance of damaged lysosomes via lysophagy.
Gallagher ER et al.
Cell Reports, 2023
Frameshift mutation in SQSTM1 causes proximal myopathy with rimmed vacuoles: A case report.
Wu R et al.
Frontiers in Neurology, 2023
Paget's disease: a review of the epidemiology, etiology, genetics, and treatment.
Banaganapalli B et al.
Frontiers in Genetics, 2023
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis.
Ruf WP et al.
Brain Communications, 2023
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
McCann EP et al.
Journal of Neuromuscular Diseases, 2023
Proteostasis impairment and ALS.
Lambert-Smith IA et al.
Progress in Biophysics and Molecular Biology, 2022
The Cure VCP Scientific Conference 2021: Molecular and clinical insights into neurodegeneration and myopathy linked to multisystem proteinopathy-1 (MSP-1).
Johnson MA et al.
Neurobiology of Disease, 2022