Evidence map›Paper›PMID 33917450›Full record

ReviewCells2021

TRIM32 and Malin in Neurological and Neuromuscular Rare Diseases.

Lorena Kumarasinghe, Lu Xiong, Maria Adelaida Garcia-Gimeno, Elisa Lazzari, Pascual Sanz, Germana Meroni

Open access · goldAbstract readReview
In one paragraph

Review in Cells, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
2.0field-weighted citation impact, top 14% 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

9 citing papers in PubMed, 14 citations in OpenAlex.

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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 4 institutions in 2 countries.

Lorena KumarasingheInstituto de Biomedicina de Valencia, CSIC, Jaime Roig 11, 46010 Valencia, Spain.
Lu XiongDepartment of Life Sciences, University of Trieste, Building Q, Via L. Giorgieri 5, 34127 Trieste, Italy.
Maria Adelaida Garcia-GimenoDepartment of Biotechnology, Polytechnic University of Valencia, 46022 Valencia, Spain.ORCID 0000-0002-6483-3912
Elisa LazzariDepartment of Life Sciences, University of Trieste, Building Q, Via L. Giorgieri 5, 34127 Trieste, Italy.ORCID 0000-0001-5299-7525
Pascual SanzInstituto de Biomedicina de Valencia, CSIC, Jaime Roig 11, 46010 Valencia, Spain.ORCID 0000-0002-2399-4103
Germana MeroniDepartment of Life Sciences, University of Trieste, Building Q, Via L. Giorgieri 5, 34127 Trieste, Italy.ORCID 0000-0003-2531-114X
University of Trieste · ITInstituto de Biomedicina de Valencia · ESInstituto de Salud Carlos III · ESUniversitat Politècnica de València · ES

Funding

Suppressing glycogen storage with small molecule inhibitors as a therapeutic approach to Lafora DiseaseP01NS097197 · NINDS · UNIVERSITY OF KENTUCKY · PI GAO, TIANYAN · 2016 to 2021
$9.0M
European Union's Horizon 2020 research and innovation programme under the Marie Sklodowska-Curie grant 813599
6 · The paper itself

Abstract

Tripartite motif (TRIM) proteins are RING E3 ubiquitin ligases defined by a shared domain structure. Several of them are implicated in rare genetic diseases, and mutations in TRIM32 and TRIM-like malin are associated with Limb-Girdle Muscular Dystrophy R8 and Lafora disease, respectively. These two proteins are evolutionary related, share a common ancestor, and both display NHL repeats at their C-terminus. Here, we revmniew the function of these two related E3 ubiquitin ligases discussing their intrinsic and possible common pathophysiological pathways.

Indexed as

AnimalsHumansNervous System DiseasesNeuromuscular DiseasesRare DiseasesSignal TransductionTripartite Motif ProteinsUbiquitin-Protein LigasesTripartite Motif ProteinsUbiquitin-Protein LigasesE3-ligaseLafora diseaseLimb-Girdle Muscular Dystrophymalinrare diseasesTrim32TRIM proteinsubiquitination

Identifiers

PMID33917450
PMCPMC8067510
OpenAlexW3144180788

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.