Evidence map›Paper›PMID 34395527›Full record

ArticleFrontiers in molecular biosciences2021

Molecular and Cellular Studies Reveal Folding Defects of Human Ornithine Aminotransferase Variants Associated With Gyrate Atrophy of the Choroid and Retina.

Riccardo Montioli, Giada Sgaravizzi, Maria Andrea Desbats, Silvia Grottelli, Carla Borri Voltattorni, Leonardo Salviati, Barbara Cellini

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Frontiers in molecular biosciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
1.0field-weighted citation impact, top 27% 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

3 citing papers in PubMed, 9 citations in OpenAlex.

  1. Review
  2. Review
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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

7 authors at 3 institutions in 1 country.

Riccardo MontioliSection of Biological Chemistry, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Giada SgaravizziDepartment of Medicine and Surgery, University of Perugia, Perugia, Italy.
Maria Andrea DesbatsClinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.
Silvia GrottelliDepartment of Medicine and Surgery, University of Perugia, Perugia, Italy.
Carla Borri VoltattorniSection of Biological Chemistry, Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.
Leonardo SalviatiClinical Genetics Unit, Department of Woman and Child Health, University of Padova, Padova, Italy.
Barbara CelliniDepartment of Medicine and Surgery, University of Perugia, Perugia, Italy.
University of Perugia · ITUniversity of Padua · ITUniversity of Verona · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The deficit of human ornithine aminotransferase (hOAT) is responsible for gyrate atrophy (GA), a rare recessive inherited disorder. Although more than 60 disease-associated mutations have been identified to date, the molecular mechanisms explaining how each mutation leads to the deficit of OAT are mostly unknown. To fill this gap, we considered six representative missense mutations present in homozygous patients concerning residues spread over the hOAT structure.

Indexed as

gyrate atrophyornithine aminotransferasepathogenic variantpyridoxal phosphatevitamin B6

Identifiers

PMID34395527
PMCPMC8360850
OpenAlexW3189163374

What OpenQuestion holds

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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.