A Pathogenic L2HGDH Variant Impairs Mitochondrial Targeting and Enzyme Function in L-2-Hydroxyglutaric Aciduria: Clinical and Functional Evidence from Two Affected Siblings

These findings indicate that the p.(Pro302Leu) variant leads to aggregation of mislocalized protein, thereby impairing L2HGDH function rather than decreasing enzymatic function. This study provides clinical and molecular evidence supporting the pathogenicity of this previously reported mutation and highlights the importance of mitochondrial import for enzyme functionality in L2HGA.

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Publication Details

Journal
Genes
Published
2025-08-20
DOI
https://doi.org/10.3390/genes16080982
Primary Topic
Metabolism and Genetic Disorders
Type
article
Field-Weighted Citation Impact
0.00

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article

A Pathogenic L2HGDH Variant Impairs Mitochondrial Targeting and Enzyme Function in L-2-Hydroxyglutaric Aciduria: Clinical and Functional Evidence from Two Affected Siblings

Patrick Giavalisco, Qiang Guo, Thaise Löhr, Vera Riehmer et al.
Genes
Metabolism and Genetic Disorders
article

A Pathogenic L2HGDH Variant Impairs Mitochondrial Targeting and Enzyme Function in L-2-Hydroxyglutaric Aciduria: Clinical and Functional Evidence from Two Affected Siblings

Patrick Giavalisco, Qiang Guo, Thaise Löhr, Vera Riehmer, Hans Zempel
article en

Abstract

These findings indicate that the p.(Pro302Leu) variant leads to aggregation of mislocalized protein, thereby impairing L2HGDH function rather than decreasing enzymatic function. This study provides clinical and molecular evidence supporting the pathogenicity of this previously reported mutation and highlights the importance of mitochondrial import for enzyme functionality in L2HGA.

GenesVol. 16(8)
University of Cologne (DE), Anhui Provincial Children's Hospital (CN), University Hospital Cologne (DE), Max Planck Institute for Biology of Ageing (DE)
Imhoff Stiftung
Openalex Percentile: Top 76%
Metabolism and Genetic Disorders
DOIOpen Access PDFOpenAlex
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A Pathogenic L2HGDH Variant Impairs Mitochondrial Targeting and Enzyme Function in L-2-Hydroxyglutaric Aciduria: Clinical and Functional Evidence from Two Affected Siblings — Patrick Giavalisco, Qiang Guo, et al. · Genes (2025) | TGRS Research Map | TGRS