Title : Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa.

Pub. Date : 2015 Sep 3

PMID : 26320891






4 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively, which both operate in the mitochondrial proline cycle. Proline aldehyde dehydrogenase 18 family member A1 Homo sapiens
2 They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively, which both operate in the mitochondrial proline cycle. Proline aldehyde dehydrogenase 18 family member A1 Homo sapiens
3 They are caused by biallelic mutations in PYCR1 or ALDH18A1, encoding pyrroline-5-carboxylate reductase 1 and pyrroline-5-carboxylate synthase (P5CS), respectively, which both operate in the mitochondrial proline cycle. Proline aldehyde dehydrogenase 18 family member A1 Homo sapiens
4 Furthermore, we found that the mutant cells had a reduced P5CS enzymatic activity leading to a delayed proline accumulation. Proline aldehyde dehydrogenase 18 family member A1 Homo sapiens