Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.5field-weighted citation impact, top 38% of its field
1 · What the graph read from it
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
2 · The registry
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
3 · Its place in the literature
Who cites it
4 citing papers in PubMed, 9 citations in OpenAlex.
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what money
Authors and funding
6 authors at 2 institutions in 3 countries.
Patricia Morejon-GarciaMolecular Mechanisms of Cancer Program (P.M.-G., P.A.L.), Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas (CSIC) - Universidad de Salamanca; Instituto de Investigación Biomédica de Salamanca (IBSAL) (P.M.-G., P.A.L.), Hospital Universitario de Salamanca, Spain; Genetics Department (B.K.), La Pitié-Salpêtrière Hospital, APHP. Sorbonne Université, Paris, France; Molecular Modelling Group (I.M.-A.), Centro de Biología Molecular "Severo Ochoa". CSIC - Universidad Autónoma de Madrid, Spain; Biosciences Research Institute (I.M.-A., P.G.-P.), School of Experimental Sciences, Universidad Francisco de Vitoria, Madrid, Spain; and Sorbonne Université - Université Pierre et Marie Curie (F.M.), Institut du Cerveau et de la Moelle épinière, INSERM U-1127, CNRS-UMR 7225, Paris, France.ORCID 0000-0001-5691-5320
Boris KerenMolecular Mechanisms of Cancer Program (P.M.-G., P.A.L.), Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas (CSIC) - Universidad de Salamanca; Instituto de Investigación Biomédica de Salamanca (IBSAL) (P.M.-G., P.A.L.), Hospital Universitario de Salamanca, Spain; Genetics Department (B.K.), La Pitié-Salpêtrière Hospital, APHP. Sorbonne Université, Paris, France; Molecular Modelling Group (I.M.-A.), Centro de Biología Molecular "Severo Ochoa". CSIC - Universidad Autónoma de Madrid, Spain; Biosciences Research Institute (I.M.-A., P.G.-P.), School of Experimental Sciences, Universidad Francisco de Vitoria, Madrid, Spain; and Sorbonne Université - Université Pierre et Marie Curie (F.M.), Institut du Cerveau et de la Moelle épinière, INSERM U-1127, CNRS-UMR 7225, Paris, France.ORCID 0000-0001-6172-8247
Iñigo Marcos-AlcaldeMolecular Mechanisms of Cancer Program (P.M.-G., P.A.L.), Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas (CSIC) - Universidad de Salamanca; Instituto de Investigación Biomédica de Salamanca (IBSAL) (P.M.-G., P.A.L.), Hospital Universitario de Salamanca, Spain; Genetics Department (B.K.), La Pitié-Salpêtrière Hospital, APHP. Sorbonne Université, Paris, France; Molecular Modelling Group (I.M.-A.), Centro de Biología Molecular "Severo Ochoa". CSIC - Universidad Autónoma de Madrid, Spain; Biosciences Research Institute (I.M.-A., P.G.-P.), School of Experimental Sciences, Universidad Francisco de Vitoria, Madrid, Spain; and Sorbonne Université - Université Pierre et Marie Curie (F.M.), Institut du Cerveau et de la Moelle épinière, INSERM U-1127, CNRS-UMR 7225, Paris, France.ORCID 0000-0002-0674-6423
Paulino Gomez-PuertasMolecular Mechanisms of Cancer Program (P.M.-G., P.A.L.), Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas (CSIC) - Universidad de Salamanca; Instituto de Investigación Biomédica de Salamanca (IBSAL) (P.M.-G., P.A.L.), Hospital Universitario de Salamanca, Spain; Genetics Department (B.K.), La Pitié-Salpêtrière Hospital, APHP. Sorbonne Université, Paris, France; Molecular Modelling Group (I.M.-A.), Centro de Biología Molecular "Severo Ochoa". CSIC - Universidad Autónoma de Madrid, Spain; Biosciences Research Institute (I.M.-A., P.G.-P.), School of Experimental Sciences, Universidad Francisco de Vitoria, Madrid, Spain; and Sorbonne Université - Université Pierre et Marie Curie (F.M.), Institut du Cerveau et de la Moelle épinière, INSERM U-1127, CNRS-UMR 7225, Paris, France.ORCID 0000-0003-3131-729X
Fanny MochelMolecular Mechanisms of Cancer Program (P.M.-G., P.A.L.), Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas (CSIC) - Universidad de Salamanca; Instituto de Investigación Biomédica de Salamanca (IBSAL) (P.M.-G., P.A.L.), Hospital Universitario de Salamanca, Spain; Genetics Department (B.K.), La Pitié-Salpêtrière Hospital, APHP. Sorbonne Université, Paris, France; Molecular Modelling Group (I.M.-A.), Centro de Biología Molecular "Severo Ochoa". CSIC - Universidad Autónoma de Madrid, Spain; Biosciences Research Institute (I.M.-A., P.G.-P.), School of Experimental Sciences, Universidad Francisco de Vitoria, Madrid, Spain; and Sorbonne Université - Université Pierre et Marie Curie (F.M.), Institut du Cerveau et de la Moelle épinière, INSERM U-1127, CNRS-UMR 7225, Paris, France.ORCID 0000-0003-3970-3486
Pedro A LazoMolecular Mechanisms of Cancer Program (P.M.-G., P.A.L.), Instituto de Biología Molecular y Celular del Cáncer, Consejo Superior de Investigaciones Científicas (CSIC) - Universidad de Salamanca; Instituto de Investigación Biomédica de Salamanca (IBSAL) (P.M.-G., P.A.L.), Hospital Universitario de Salamanca, Spain; Genetics Department (B.K.), La Pitié-Salpêtrière Hospital, APHP. Sorbonne Université, Paris, France; Molecular Modelling Group (I.M.-A.), Centro de Biología Molecular "Severo Ochoa". CSIC - Universidad Autónoma de Madrid, Spain; Biosciences Research Institute (I.M.-A., P.G.-P.), School of Experimental Sciences, Universidad Francisco de Vitoria, Madrid, Spain; and Sorbonne Université - Université Pierre et Marie Curie (F.M.), Institut du Cerveau et de la Moelle épinière, INSERM U-1127, CNRS-UMR 7225, Paris, France.ORCID 0000-0001-8997-3025
Universidad de Salamanca · ESAllen Institute for Brain Science · US
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
BACKGROUND AND
objectivesTo conduct a genetic and molecular functional study of a family with members affected of hereditary spastic paraplegia (HSP) of unknown origin and carrying a novel pathogenic vaccinia-related kinase 1 (
methodsWhole-exome sequencing was performed in 2 patients, and their parents diagnosed with HSP. The novel
resultsWe have identified a very rare homozygous variant VRK1-D263G with a neurologic phenotype associated with HSP and moderate intellectual disability. The molecular modeling of this VRK1 variant protein predicted an alteration in the folding of a loop that interferes with the access to the kinase catalytic site. The VRK1-D263G variant is kinase inactive and does not phosphorylate histones H2AX and H3, transcription factors activating transcription factor 2 and p53, coilin needed for assembly of CBs, and p53 binding protein 1, a DNA repair protein. Functionally, this DISCUSSION: This report expands the neurologic spectrum of neuromotor syndromes associated with a new and rare
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.
Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia. · full record | OpenQuestion