ArticleNature communications2014
A gatekeeper helix determines the substrate specificity of Sjögren-Larsson Syndrome enzyme fatty aldehyde dehydrogenase.
Article in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 61 citations in OpenAlex.
- A targetable ALDH3A2-NRF2 axis mediates KEAP1-mutant tumour development via ferroptosis inhibition.Cell death and differentiation · 2026Article
- Clinical and genetic analysis of patients with Sjögren-Larsson syndrome in China.Orphanet journal of rare diseases · 2026Article
- A gated hydrophobic funnel within BAX binds bioactive lipids to potentiate pro-apoptotic function.Nature communications · 2026Article
- Positive Selection in Aggression-Linked Genes and Their Protein Interaction Networks.Life (Basel, Switzerland) · 2025Article
- Ether lipids and a peroxisomal riddle in sperm.Frontiers in cell and developmental biology · 2023Review
- Cryo-EM structure of the fatty acid reductase LuxC-LuxE complex provides insights into bacterial bioluminescence.The Journal of biological chemistry · 2022Article
- Genomic characterization of the world's longest selection experiment in mouse reveals the complexity of polygenic traits.BMC biology · 2022Article
- Structure of putative tumor suppressor ALDH1L1.Communications biology · 2022Article
- Tricky Isomers-The Evolution of Analytical Strategies to Characterize Plasmalogens and Plasmanyl Ether Lipids.Frontiers in cell and developmental biology · 2022Review
- Salivary Metabolites are Promising Non-Invasive Biomarkers of Hepatocellular Carcinoma and Chronic Liver Disease.Liver cancer international · 2021Article
- Nuclear receptors NHR-49 and NHR-79 promote peroxisome proliferation to compensate for aldehyde dehydrogenase deficiency in C. elegans.PLoS genetics · 2021Article
- Engineering the Cad pathway in Escherichia coli to produce glutarate from L-lysine.Applied microbiology and biotechnology · 2021Article
- The Emerging Physiological Role of AGMO 10 Years after Its Gene Identification.Life (Basel, Switzerland) · 2021Review
- Insights into Aldehyde Dehydrogenase Enzymes: A Structural Perspective.Frontiers in molecular biosciences · 2021Review
- Disturbed brain ether lipid metabolism and histology in Sjögren-Larsson syndrome.Journal of inherited metabolic disease · 2020Article
- Unequivocal Mapping of Molecular Ether Lipid Species by LC-MS/MS in Plasmalogen-Deficient Mice.Analytical chemistry · 2020Article
- Detection of ALDH3B2 in Human Placenta.International journal of molecular sciences · 2019Article
- Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.Human genetics · 2019Article
- Genotype and phenotype variability in Sjögren-Larsson syndrome.Human mutation · 2019Article
- Activin/Smad2 and Wnt/β-catenin up-regulate HAS2 and ALDH3A2 to facilitate mesendoderm differentiation of human embryonic stem cells.The Journal of biological chemistry · 2018Article
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Authors and funding
12 authors at 5 institutions in 3 countries.
Funding
Abstract
Mutations in the gene coding for membrane-bound fatty aldehyde dehydrogenase (FALDH) lead to toxic accumulation of lipid species and development of the Sjögren-Larsson Syndrome (SLS), a rare disorder characterized by skin defects and mental retardation. Here, we present the crystallographic structure of human FALDH, the first model of a membrane-associated aldehyde dehydrogenase. The dimeric FALDH displays a previously unrecognized element in its C-terminal region, a 'gatekeeper' helix, which extends over the adjacent subunit, controlling the access to the substrate cavity and helping orientate both substrate cavities towards the membrane surface for efficient substrate transit between membranes and catalytic site. Activity assays demonstrate that the gatekeeper helix is important for directing the substrate specificity of FALDH towards long-chain fatty aldehydes. The gatekeeper feature is conserved across membrane-associated aldehyde dehydrogenases. Finally, we provide insight into the previously elusive molecular basis of SLS-causing mutations.
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