ArticleAnnals of clinical and translational neurology2020
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect.
Article in Annals of clinical and translational neurology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Pooled it
- FBXO7- associated parkinsonism: clinical, genetic, and radiological insights from a case report and literature review.Journal of neural transmission (Vienna, Austria : 1996) · 2026Article
- rAAV Fbxo7 gene therapy rescues the progressive nigrostriatal pathology in a mouse model of juvenile parkinsonism.Acta neuropathologica communications · 2026Article
- Case Report: Neonatal-onset parkinsonian-pyramidal syndrome caused by novel compound heterozygousFrontiers in pediatrics · 2026Article
- FBXO7 Pathogenic Variants in Early-Onset Parkinsonism: Insights from a Neuroimaging Perspective and Review of the Literature.Movement disorders clinical practice · 2025Review
- The Role of Preoperative Chronic Hypertension in Neurocognitive Decline after Cardiac Surgery: A Retrospective Cohort Study.Brazilian journal of cardiovascular surgery · 2025Article
- X-Linked Levodopa-Responsive Parkinsonism-Epilepsy Syndrome: A Novel PGK1 Mutation and Literature Review.Movement disorders clinical practice · 2024Review
- Discovery-Based Proteomics Identify Skeletal Muscle Mitochondrial Alterations as an Early Metabolic Defect in a Mouse Model of β-Thalassemia.International journal of molecular sciences · 2023Article
- Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain.Neurology. Genetics · 2022Article
- Protein misfolding and clearance in the pathogenesis of a new infantile onset ataxia caused by mutations in PRDX3.Human molecular genetics · 2022Article
- Mutations, Genes, and Phenotypes Related to Movement Disorders and Ataxias.International journal of molecular sciences · 2022Article
- Nearly Abolished Dopamine Transporter Uptake in a Patient With a Novel FBXO7 Mutation.Journal of movement disorders · 2022Article
- Cerebral Iron Deposition in Neurodegeneration.Biomolecules · 2022Review
- Monogenic Parkinson's Disease: Genotype, Phenotype, Pathophysiology, and Genetic Testing.Genes · 2022Review
- A 3.9-Mb Deletion on 2p11.2 Comprising theNeurology. Genetics · 2021Article
- Hereditary Spastic Paraplegia 7 Presenting as Multifocal Dystonia with Prominent Cranio-Cervical Involvement.Movement disorders clinical practice · 2021Article
- Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.International journal of molecular sciences · 2021Article
- Article
- Mitochondrial Dysfunction, Oxidative Stress and Neuroinflammation in Neurodegeneration with Brain Iron Accumulation (NBIA).Antioxidants (Basel, Switzerland) · 2020Review
Corrections and comments
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Authors and funding
18 authors at 7 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
FBXO7 is implicated in the ubiquitin-proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS).
methodsWe investigated the disease molecular bases in a child with PPS and brain iron accumulation.
resultsA novel homozygous c.368C>G (p.S123*) FBXO7 mutation was identified in a child with spastic paraplegia, epilepsy, cerebellar degeneration, levodopa nonresponsive parkinsonism, and brain iron deposition. Patient's fibroblasts assays demonstrated an absence of FBXO7 RNA expression leading to impaired proteasome degradation and accumulation of poly-ubiquitinated proteins.
conclusionThis novel FBXO7 phenotype associated with impaired proteasome activity overlaps with neurodegeneration with brain iron accumulation disorders.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.