ArticlePloS one2013
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.
Article in PloS one, 2013. 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, 39 citations in OpenAlex.
- Autophagic lysosome reformation in health and disease.Autophagy · 2023Review
- A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.Orphanet journal of rare diseases · 2022Review
- Role of adaptin protein complexes in intracellular trafficking and their impact on diseases.Bioengineered · 2021Article
- Current Knowledge of Endolysosomal and Autophagy Defects in Hereditary Spastic Paraplegia.Cells · 2021Review
- Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.Brain : a journal of neurology · 2020Article
- Linking Lysosomal Enzyme Targeting Genes and Energy Metabolism with Altered Gray Matter Volume in Children with Persistent Stuttering.Neurobiology of language (Cambridge, Mass.) · 2020Article
- The endocytic membrane trafficking pathway plays a major role in the risk of Parkinson's disease.Movement disorders : official journal of the Movement Disorder Society · 2019Article
- Targeted resequencing identifies genes with recurrent variation in cerebral palsy.NPJ genomic medicine · 2019Article
- AP-4 vesicles contribute to spatial control of autophagy via RUSC-dependent peripheral delivery of ATG9A.Nature communications · 2018Article
- Disruption of an antimycobacterial circuit between dendritic and helper T cells in human SPPL2a deficiency.Nature immunology · 2018Article
- Analysis of 182 cerebral palsy transcriptomes points to dysregulation of trophic signalling pathways and overlap with autism.Translational psychiatry · 2018Article
- Informed consent for next-generation nucleotide sequencing studies: Aiding communication between participants and investigators.Journal of clinical and translational science · 2017Article
- Genetic contributions to stuttering: the current evidence.Molecular genetics & genomic medicine · 2017Article
- Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy.American journal of human genetics · 2016Article
- Preliminary evaluation of exome sequencing to identify genetic markers of susceptibility to tuberculosis disease.BMC research notes · 2015Article
- Association between Rare Variants in AP4E1, a Component of Intracellular Trafficking, and Persistent Stuttering.American journal of human genetics · 2015Article
- Contiguous mutation syndrome in the era of high-throughput sequencing.Molecular genetics & genomic medicine · 2015Article
- Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.Human molecular genetics · 2015Article
- An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.European journal of human genetics : EJHG · 2015Article
- Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.Seminars in immunology · 2014Review
Corrections and comments
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Authors and funding
12 authors at 7 institutions in 4 countries.
Funding
Abstract
We report identical twins with intellectual disability, progressive spastic paraplegia and short stature, born to a consanguineous family. Intriguingly, both children presented with lymphadenitis caused by the live Bacillus Calmette-Guérin (BCG) vaccine. Two syndromes - hereditary spastic paraplegia (HSP) and mycobacterial disease - thus occurred simultaneously. Whole-exome sequencing (WES) revealed a homozygous nonsense mutation (p.R1105X) of the AP4E1 gene, which was confirmed by Sanger sequencing. The p.R1105X mutation has no effect on AP4E1 mRNA levels, but results in lower levels of AP-4ε protein and of the other components of the AP-4 complex, as shown by western blotting, immunoprecipitation and immunofluorescence. Thus, the C-terminal part of the AP-4ε subunit plays an important role in maintaining the integrity of the AP-4 complex. No abnormalities of the IL-12/IFN-γ axis or oxidative burst pathways were identified. In conclusion, we identified twins with autosomal recessive AP-4 deficiency associated with HSP and mycobacterial disease, suggesting that AP-4 may play important role in the neurological and immunological systems.
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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.