Evidence map›Paper›PMID 32377374›Full record

ReviewCell discovery2020

Mendelian neurodegenerative disease genes involved in autophagy.

Eleanna Stamatakou, Lidia Wróbel, Sandra Malmgren Hill, Claudia Puri, Sung Min Son, Motoki Fujimaki, Ye Zhu, Farah Siddiqi, Marian Fernandez-Estevez, Marco M Manni and 3 more

Erratum issuedOpen access · goldAbstract readReview
In one paragraph

Review in Cell discovery, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 31 papers.

0numbers the graph read from it
0cells of the map it votes in
31citing papers in PubMed
5.1field-weighted citation impact, top 4% 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

31 citing papers in PubMed, 52 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Biological Basis of Cell Trafficking: A General Overview.Journal of inherited metabolic disease · 2025
    Review
  10. Article
  11. Review
  12. Article
  13. Article
  14. Review
  15. Are mitophagy enhancers therapeutic targets for Alzheimer's disease?Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2022
    Review
  16. Review
  17. Article
  18. Article
  19. Article
  20. Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

13 authors at 1 institution in 2 countries.

Eleanna Stamatakou1Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, CB2 0XY UK.
Lidia Wróbel *1Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, CB2 0XY UK.
Sandra Malmgren Hill *1Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, CB2 0XY UK.
Claudia Puri *1Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, CB2 0XY UK.
Sung Min Son *1Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, CB2 0XY UK.
Motoki Fujimaki *1Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, CB2 0XY UK.
Ye Zhu *1Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, CB2 0XY UK.
Farah Siddiqi1Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, CB2 0XY UK.
Marian Fernandez-Estevez1Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, CB2 0XY UK.
Marco M Manni1Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, CB2 0XY UK.
So Jung Park1Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, CB2 0XY UK.
Julien Villeneuve1Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, CB2 0XY UK.
David Chaim Rubinsztein1Department of Medical Genetics, Cambridge Institute for Medical Research, Cambridge, CB2 0XY UK.
UK Dementia Research Institute · GB

Funding

Medical Research Council UKDRI-2002
6 · The paper itself

Abstract

The lysosomal degradation pathway of macroautophagy (herein referred to as autophagy) plays a crucial role in cellular physiology by regulating the removal of unwanted cargoes such as protein aggregates and damaged organelles. Over the last five decades, significant progress has been made in understanding the molecular mechanisms that regulate autophagy and its roles in human physiology and diseases. These advances, together with discoveries in human genetics linking autophagy-related gene mutations to specific diseases, provide a better understanding of the mechanisms by which autophagy-dependent pathways can be potentially targeted for treating human diseases. Here, we review mutations that have been identified in genes involved in autophagy and their associations with neurodegenerative diseases.

Indexed as

MacroautophagyMechanisms of disease

Identifiers

PMID32377374
PMCPMC7198619
OpenAlexW3022147998

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.