Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
Pyrroline-5-carboxylate synthase senses cellular stress and modulates metabolism by regulating mitochondrial respiration.
Yang Z et al.
Cell Death and Differentiation, 2021
ALDH18A1-related cutis laxa syndrome with cyclic vomiting.
Nozaki F et al.
Brain & Development, 2016
Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.
Fischer-Zirnsak B et al.
American Journal of Human Genetics, 2015
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Coutelier M et al.
Brain : a Journal of Neurology, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Single amino acid polymorphism in aldehyde dehydrogenase gene superfamily.
Priyadharshini Christy J et al.
Frontiers in Bioscience (landmark Edition), 2015
Loss of ALDH18A1 function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome.
Handley MT et al.
Molecular Genetics & Genomic Medicine, 2014
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.
Martinelli D et al.
Journal of Inherited Metabolic Disease, 2012
Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).
Skidmore DL et al.
American Journal of Medical Genetics. Part A, 2011
Phenotype prediction of deleterious nonsynonymous single nucleotide polymorphisms in human alcohol metabolism-related genes: a bioinformatics study.
Wang LL et al.
Alcohol (fayetteville, N.y.), 2010
Pyrroline-5-carboxylate synthase and proline biosynthesis: from osmotolerance to rare metabolic disease.
Pérez-Arellano I et al.
Protein Science : a Publication of the Protein Society, 2010
A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.
Bicknell LS et al.
European Journal of Human Genetics : Ejhg, 2008