Associated Papers
Pyrroline-5-carboxylate synthase senses cellular stress and modulates metabolism by regulating mitochondrial respiration.
Yang Z et al.
Cell Death and Differentiation, 2021
Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis.
Lefebvre M et al.
American Journal of Medical Genetics. Part A, 2018
ALDH18A1-related cutis laxa syndrome with cyclic vomiting.
Nozaki F et al.
Brain & Development, 2016
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia.
Coutelier M et al.
Brain : a Journal of Neurology, 2015
Clinical and biochemical features guiding the diagnostics in neurometabolic cutis laxa.
Gardeitchik T et al.
European Journal of Human Genetics : Ejhg, 2014
De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction.
Zampatti S et al.
American Journal of Medical Genetics. Part A, 2012
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