Evidence map›Paper›PMID 30499105›Full record

ReviewBritish journal of pharmacology2019

Xeroderma pigmentosum: overview of pharmacology and novel therapeutic strategies for neurological symptoms.

Rosella Abeti, Anna Zeitlberger, Colm Peelo, Hiva Fassihi, Robert P E Sarkany, Alan R Lehmann, Paola Giunti

Open access · bronzeAbstract readReview
In one paragraph

Review in British journal of pharmacology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.

0numbers the graph read from it
0cells of the map it votes in
22citing papers in PubMed
1.2field-weighted citation impact, top 21% 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

22 citing papers in PubMed, 39 citations in OpenAlex.

  1. Xeroderma pigmentosum with multiple skin carcinoma and a homogenousThe Journal of international medical research · 2026
    Review
  2. Review
  3. Review
  4. Review
  5. Review
  6. Article
  7. Review
  8. Article
  9. Review
  10. Article
  11. Review
  12. Article
  13. Article
  14. Review
  15. Review
  16. Review
  17. Topoisomerase I-driven repair of UV-induced damage in NER-deficient cells.Proceedings of the National Academy of Sciences of the United States of America · 2020
    Article
  18. Article
  19. Use of a Topical Film-Forming Medical Device Containing RepairsomesClinical, cosmetic and investigational dermatology · 2020
    Article
  20. Review
4 · The record

Corrections and comments

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

7 authors at 3 institutions in 2 countries.

Rosella AbetiAtaxia Centre, Department of Clinical and Movement Neurosciences, University College London, Institute of Neurology London, London, UK.ORCID 0000-0001-9817-8779
Anna ZeitlbergerAtaxia Centre, Department of Clinical and Movement Neurosciences, University College London, Institute of Neurology London, London, UK.
Colm PeeloAtaxia Centre, Department of Clinical and Movement Neurosciences, University College London, Institute of Neurology London, London, UK.
Hiva FassihiNational Xeroderma Pigmentosum Service, St John's Institute of Dermatology Guy's and St Thomas' Foundation Trust, London, UK.
Robert P E SarkanyNational Xeroderma Pigmentosum Service, St John's Institute of Dermatology Guy's and St Thomas' Foundation Trust, London, UK.
Alan R LehmannGenome Damage and Stability Centre, University of Sussex, Brighton, UK.
Paola GiuntiAtaxia Centre, Department of Clinical and Movement Neurosciences, University College London, Institute of Neurology London, London, UK.ORCID 0000-0003-3508-4788
Guy's and St Thomas' NHS Foundation Trust · GBUK Dementia Research Institute · GBUniversity of Sussex · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Xeroderma pigmentosum (XP) encompasses a group of rare diseases characterized in most cases by malfunction of nucleotide excision repair (NER), which results in an increased sensitivity to UV radiation in affected individuals. Approximately 25-30% of XP patients present with neurological symptoms, such as sensorineural deafness, mental deterioration and ataxia. Although it is known that dysfunctional DNA repair is the primary pathogenesis in XP, growing evidence suggests that mitochondrial pathophysiology may also occur. This appears to be secondary to dysfunctional NER but may contribute to the neurodegenerative process in these patients. The available pharmacological treatments in XP mostly target the dermal manifestations of the disease. In the present review, we outline how current understanding of the pathophysiology of XP could be used to develop novel therapies to counteract the neurological symptoms. Moreover, the coexistence of cancer and neurodegeneration present in XP led us to focus on possible new avenues targeting mitochondrial pathophysiology. LINKED ARTICLES: This article is part of a themed section on Mitochondrial Pharmacology: Featured Mechanisms and Approaches for Therapy Translation. To view the other articles in this section visit http://onlinelibrary.wiley.com/doi/10.1111/bph.v176.22/issuetoc.

Indexed as

HumansNeurodegenerative DiseasesXeroderma Pigmentosum

Identifiers

PMID30499105
PMCPMC6887903
OpenAlexW2902029936

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.