Evidence map›Paper›PMID 35205278›Full record

ArticleGenes2022

A Gain-of-Function Mutation on

Alice Maguolo, Giulia Rodella, Alejandro Giorgetti, Marion Nicolodi, Rui Ribeiro, Alice Dianin, Gaetano Cantalupo, Irene Monge, Sarah Carcereri, Margherita Lucia De Bernardi and 9 more

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

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.5field-weighted citation impact, top 20% 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

7 citing papers in PubMed, 12 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

19 authors at 4 institutions in 2 countries.

Alice MaguoloDepartment of Mother and Child, University of Verona, I-37126 Verona, Italy.ORCID 0000-0002-8921-2012
Giulia RodellaDepartment of Mother and Child, University of Verona, I-37126 Verona, Italy.
Alejandro GiorgettiDepartment of Biotechnology, University of Verona, Strada Le Grazie 15, I-37134 Verona, Italy.
Marion NicolodiDepartment of Biotechnology, University of Verona, Strada Le Grazie 15, I-37134 Verona, Italy.
Rui RibeiroInstitute of Neuroscience and Medicine INM-9, Institute for Advanced Simulations IAS-5, Forschungszentrum Jülich, D-52425 Jülich, Germany.
Alice DianinInherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy.
Gaetano CantalupoChild Neuropsychiatry Unit, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy.ORCID 0000-0003-1343-8434
Irene MongeInherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy.
Sarah CarcereriInherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy.
Margherita Lucia De BernardiPediatric Clinic AOUI of Verona, I-37126 Verona, Italy.
Massimo DelledonneDepartment of Biotechnology, University of Verona, Strada Le Grazie 15, I-37134 Verona, Italy.ORCID 0000-0002-7100-4581
Andrea PasiniDepartment of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy.
Natascia CampostriniDepartment of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy.
Florina Ion PopaDepartment of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy.
Giorgio PiacentiniDepartment of Mother and Child, University of Verona, I-37126 Verona, Italy.
Francesca TeofoliDepartment of Mother and Child, University of Verona, I-37126 Verona, Italy.
Monica VincenziDepartment of Pediatrics, The Regional Center for Neonatal Screening, Diagnosis and Treatment of Inherited Congenital Metabolic and Endocrinological Diseases, AOUI, I-37134 Verona, Italy.
Marta CamilotDepartment of Mother and Child, University of Verona, I-37126 Verona, Italy.
Andrea BordugoInherited Metabolic Diseases Unit and Regional Centre for Newborn Screening, Diagnosis and Treatment of Inherited Metabolic Diseases and Congenital Endocrine Diseases, Azienda Ospedaliera Universitaria Integrata, I-37126 Verona, Italy.ORCID 0000-0003-1927-8187
University of Verona · ITAzienda Ospedaliera Universitaria Integrata Verona · ITFederico II University Hospital · ITForschungszentrum Jülich · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BCKDK is an important key regulator of branched-chain ketoacid dehydrogenase complex activity by phosphorylating and so inactivating branched-chain ketoacid dehydrogenases, the rate-limiting enzyme of the branched-chain amino acid metabolism. We identified, by whole exome-sequencing analysis, the p.His162Gln variant of the

Indexed as

Gain of Function MutationMaple Syrup Urine Disease3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)Amino Acids, Branched-ChainHumansInfant, NewbornMutationProtein Kinases3-Methyl-2-Oxobutanoate Dehydrogenase (Lipoamide)(3-methyl-2-oxobutanoate dehydrogenase (lipoamide)) kinaseAmino Acids, Branched-ChainProtein Kinasesbranched-chain amino acid metabolismbranched-chain ketoacid dehydrogenase kinasegenetic analysisleucinosismaple syrup urine diseasemolecular dynamics simulationsnewborn screeningwhole-exome sequencing

Identifiers

PMID35205278
PMCPMC8872256
OpenAlexW4210305699

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.