ArticleScientific reports2018
Mutations in bassoon in individuals with familial and sporadic progressive supranuclear palsy-like syndrome.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 45 citations in OpenAlex.
- The presynaptic protein bassoon is a biofluid biomarker of synaptic pathology in multiple sclerosis.EBioMedicine · 2026Article
- CRISPR-edited iPSCs reveal BSN gene mutations induce neuronal hyperexcitability via astrocyte lipid accumulation.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2025Article
- Cognitive Decline in Parkinsonism: From Clinical Phenotypes to the Genetic Background.Biomedicines · 2025Review
- Case Report: Decoding genetic risks of vascular parkinsonism: a case series.Frontiers in genetics · 2025Article
- The association between cumulative exposure to PMRespiratory research · 2024Article
- Identification of rare missense variants in the BSN gene co-segregating with chronic otitis media in a consanguineous Pakistani family.Molecular genetics & genomic medicine · 2024Article
- Protein-truncating variants in BSN are associated with severe adult-onset obesity, type 2 diabetes and fatty liver disease.Nature genetics · 2024Article
- Perry Disease: Bench to Bedside Circulation and a Team Approach.Biomedicines · 2024Article
- Behavioral and histological analyses of the mouseFrontiers in neuroscience · 2024Article
- A novelFrontiers in neurology · 2024Article
- Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesity.NPJ genomic medicine · 2023Article
- Decoding Neurodegeneration: A Comprehensive Review of Molecular Mechanisms, Genetic Influences, and Therapeutic Innovations.International journal of molecular sciences · 2023Review
- Genetics of Multiple System Atrophy and Progressive Supranuclear Palsy: A Systemized Review of the Literature.International journal of molecular sciences · 2023Review
- Bassoon contributes to tau-seed propagation and neurotoxicity.Nature neuroscience · 2022Article
- Aging-Dependent Altered Transcriptional Programs Underlie Activity Impairments in Human C9orf72-Mutant Motor Neurons.Frontiers in molecular neuroscience · 2022Article
- Identification of Rare Mutations of Two Presynaptic Cytomatrix GenesJournal of personalized medicine · 2021Article
- The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes.International journal of molecular sciences · 2021Review
- Infanticide vs. inherited cardiac arrhythmias.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2021Article
- Bassoon inhibits proteasome activity via interaction with PSMB4.Cellular and molecular life sciences : CMLS · 2021Article
- Genetics of Progressive Supranuclear Palsy: A Review.Journal of Parkinson's disease · 2021Review
Corrections and comments
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Authors and funding
25 authors at 9 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Clinical diagnosis of progressive supranuclear palsy (PSP) is sometimes difficult because various phenotypes have been identified. Here, we report a mutation in the bassoon (BSN) gene in a family with PSP-like syndrome. Their clinical features resembled not only those of PSP patients but also those of individuals with multiple system atrophy and Alzheimer's disease. The neuropathological findings showed a novel three + four repeat tauopathy with pallido-luysio-nigral degeneration and hippocampal sclerosis. Whole-exome analysis of this family identified a novel missense mutation in BSN. Within the pedigree, the detected BSN mutation was found only in affected individuals. Further genetic analyses were conducted in probands from four other pedigrees with PSP-like syndrome and in 41 sporadic cases. Three missense mutations in BSN that are very rarely listed in databases of healthy subjects were found in four sporadic cases. Western blot analysis of tau following the overexpression of wild-type or mutated BSN revealed the possibility that wild-type BSN reduced tau accumulation, while mutated BSN lost this function. An association between BSN and neurological diseases has not been previously reported. Our results revealed that the neurodegenerative disorder associated with the original proband's pedigree is a novel tauopathy, differing from known dementia and parkinsonism syndromes, including PSP.
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