ArticleHuman mutation2020
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia.
Article in Human mutation, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Cited by 13 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
13 citing papers in PubMed, 21 citations in OpenAlex.
- Cell biological insights into human STING variants.Cell structure and function · 2025Review
- ESCRT-I and PTPN23 mediate microautophagy of ubiquitylated tau aggregates.The Journal of cell biology · 2025Article
- A quantitative method to monitor STING degradation with dual-luciferase reporters.Cell structure and function · 2025Article
- ClinPrior: an algorithm for diagnosis and novel gene discovery by network-based prioritization.Genome medicine · 2023Article
- Decoding hereditary spastic paraplegia pathogenicity through transcriptomic profiling.Zoological research · 2023Review
- ESCRT-dependent STING degradation inhibits steady-state and cGAMP-induced signalling.Nature communications · 2023Article
- Ubap1 knock-in mice reproduced the phenotype of SPG80.Journal of human genetics · 2022Article
- A novel UBAP1 truncated variant in a Chinese family with hereditary spastic paraplegia.Molecular genetics & genomic medicine · 2022Article
- A novel mutation in theFrontiers in genetics · 2022Article
- Novel Frameshift Heterozygous Mutation inFrontiers in neurology · 2022Article
- Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.Current neurology and neuroscience reports · 2021Review
- Two novel truncating variants in UBAP1 are responsible for hereditary spastic paraplegia.PloS one · 2021Article
- Autosomal dominant hereditary spastic paraplegia caused by mutation of UBAP1.Neurogenetics · 2020Article
Corrections and comments
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Authors and funding
17 authors at 9 institutions in 6 countries.
Funding
Abstract
Hereditary spastic paraplegia (HSP) is a group of disorders with predominant symptoms of lower-extremity weakness and spasticity. Despite the delineation of numerous genetic causes of HSP, a significant portion of individuals with HSP remain molecularly undiagnosed. Through exome sequencing, we identified five unrelated families with childhood-onset nonsyndromic HSP, all presenting with progressive spastic gait, leg clonus, and toe walking starting from 7 to 8 years old. A recurrent two-base pair deletion (c.426_427delGA, p.K143Sfs*15) in the UBAP1 gene was found in four families, and a similar variant (c.475_476delTT, p.F159*) was detected in a fifth family. The variant was confirmed to be de novo in two families and inherited from an affected parent in two other families. RNA studies performed in lymphocytes from one patient with the de novo c.426_427delGA variant demonstrated escape of nonsense-mediated decay of the UBAP1 mutant transcript, suggesting the generation of a truncated protein. Both variants identified in this study are predicted to result in truncated proteins losing the capacity of binding to ubiquitinated proteins, hence appearing to exhibit a dominant-negative effect on the normal function of the endosome-specific endosomal sorting complexes required for the transport-I complex.
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