Evidence map›Paper›PMID 33203024›Full record

ArticleInternational journal of molecular sciences2020

Succinic Semialdehyde Dehydrogenase Deficiency: In Vitro and In Silico Characterization of a Novel Pathogenic Missense Variant and Analysis of the Mutational Spectrum of

Heiko Brennenstuhl, Miroslava Didiasova, Birgit Assmann, Mariarita Bertoldi, Gianluca Molla, Sabine Jung-Klawitter, Oya Kuseyri Hübschmann, Julian Schröter, Thomas Opladen, Ritva Tikkanen

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In one paragraph

Article in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.3field-weighted citation impact, top 42% 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

5 citing papers in PubMed, 11 citations in OpenAlex.

  1. Article
  2. A crucial active site network of titratable residues guides catalysis and NADProtein science : a publication of the Protein Society · 2025
    Article
  3. Article
  4. Article
  5. Review
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

10 authors at 4 institutions in 2 countries.

Heiko BrennenstuhlDepartment of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, 69120 Heidelberg, Germany.ORCID 0000-0002-6909-0003
Miroslava DidiasovaInstitute of Biochemistry, Medical Faculty, University of Giessen, 35392 Giessen, Germany.
Birgit AssmannDepartment of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, 69120 Heidelberg, Germany.
Mariarita BertoldiDepartment of Neuroscience, Biomedicine and Movement, Section of Biological Chemistry, University of Verona, Strada Le Grazie, 8, 37134 Verona, Italy.ORCID 0000-0002-2337-9928
Gianluca MollaDepartment of Biotechnology and Life Sciences, University of Insubria, via J.H. Dunant 3, 21100 Varese, Italy.ORCID 0000-0003-3688-3397
Sabine Jung-KlawitterDepartment of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, 69120 Heidelberg, Germany.
Oya Kuseyri HübschmannDepartment of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, 69120 Heidelberg, Germany.ORCID 0000-0001-6576-6566
Julian SchröterDepartment of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, 69120 Heidelberg, Germany.
Thomas OpladenDepartment of General Pediatrics, Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, 69120 Heidelberg, Germany.
Ritva TikkanenInstitute of Biochemistry, Medical Faculty, University of Giessen, 35392 Giessen, Germany.ORCID 0000-0002-8393-1825
Heidelberg University · DEJustus-Liebig-Universität Gießen · DEUniversity of Insubria · ITUniversity of Verona · IT

Funding

Dietmar Hopp Foundation -Physician Scientist Program at Ruprecht Karls University Heidelberg, Faculty of Medicine -SSADH Defizit e.V. -
6 · The paper itself

Abstract

Succinic semialdehyde dehydrogenase deficiency (SSADHD) is a rare, monogenic disorder affecting the degradation of the main inhibitory neurotransmitter γ-amino butyric acid (GABA). Pathogenic variants in the

Indexed as

Amino Acid Metabolism, Inborn ErrorsComputer SimulationDevelopmental DisabilitiesMutation, MissenseAmino Acid SubstitutionHEK293 CellsHumansProtein DomainsSuccinate-Semialdehyde DehydrogenaseALDH5A1 protein, humanSuccinate-Semialdehyde Dehydrogenaseinherited metabolic diseasemutational spectrumsuccinic semialdehyde dehydrogenase deficiencyγ-amino butyric acidγ–hydroxybutyrate

Identifiers

PMID33203024
PMCPMC7696157
OpenAlexW3101299421

What OpenQuestion holds

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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.