Evidence map›Paper›PMID 30190335›Full record

ArticleEMBO molecular medicine2018

Mutations in

Aurelio Reyes, Laura Melchionda, Alberto Burlina, Alan J Robinson, Daniele Ghezzi, Massimo Zeviani

Open access · goldAbstract read
In one paragraph

Article in EMBO molecular medicine, 2018. 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
3.4field-weighted citation impact, top 7% 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, 41 citations in OpenAlex.

  1. Identification of Novel Kv1.3 Channel-Interacting Proteins Using Proximity Labelling in T-Cells.Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology · 2025
    Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. Prognostic value of TIMM50 expression in colorectal cancer.Archives of medical science : AMS · 2023
    Article
  7. Review
  8. Article
  9. Article
  10. Mitochondrial Protein Homeostasis and Cardiomyopathy.International journal of molecular sciences · 2022
    Review
  11. Review
  12. Article
  13. Review
  14. Article
  15. Review
  16. Review
  17. Review
  18. Article
  19. Mitochondrial diseases: expanding the diagnosis in the era of genetic testing.Journal of translational genetics and genomics · 2020
    Article
  20. Article
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

6 authors at 2 institutions in 2 countries.

Aurelio ReyesMRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK art@mrc-mbu.cam.ac.uk mdz21@mrc-mbu.cam.ac.uk.ORCID 0000-0003-2876-2202
Laura MelchiondaUnit of Molecular Neurogenetics, Foundation Carlo Besta Neurological Institute-IRCCS, Milan, Italy.
Alberto BurlinaDivision of Inherited Metabolic Diseases, Department of Pediatrics, University Hospital Padova, Padova, Italy.
Alan J RobinsonMRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK.
Daniele GhezziUnit of Molecular Neurogenetics, Foundation Carlo Besta Neurological Institute-IRCCS, Milan, Italy.ORCID 0000-0002-9358-1566
Massimo ZevianiMRC Mitochondrial Biology Unit, University of Cambridge, Cambridge, UK art@mrc-mbu.cam.ac.uk mdz21@mrc-mbu.cam.ac.uk.ORCID 0000-0002-9067-5508
University of Cambridge · GBFondazione IRCCS Istituto Neurologico Carlo Besta · IT

Funding

European Research Council 322424Medical Research Council MC_U105674181Medical Research Council MC_UP_1002/1Medical Research Council MC_UU_00015/5Medical Research Council MC_UU_00015/7Medical Research Council MC_UU_00015/8
6 · The paper itself

Abstract

TIMM50 is an essential component of the TIM23 complex, the mitochondrial inner membrane machinery that imports cytosolic proteins containing a mitochondrial targeting presequence into the mitochondrial inner compartment. Whole exome sequencing (WES) identified compound heterozygous pathogenic mutations in

Indexed as

MutationOxidative PhosphorylationBrain DiseasesCells, CulturedCell SurvivalFemaleFibroblastsGenetic Complementation TestHumansInfantItalyMembrane Transport ProteinsMitochondrial DiseasesMitochondrial Precursor Protein Import Complex ProteinsMembrane Transport ProteinsMitochondrial Precursor Protein Import Complex ProteinsTIMM50 protein, humanbioenergetic dysfunctionmitochondrial importOxPhosTIMM50

Identifiers

PMID30190335
PMCPMC6180300
OpenAlexW2889825715

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.