Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities

Mitochondrial GLUT10 facilitates dehydroascorbic acid import and protects cells against oxidative stress: mechanistic insight into arterial tortuosity syndrome

(2010) Yi-Ching Lee et al.   HUMAN MOLECULAR GENETICS

Mutation in Pyrroline-5-Carboxylate Reductase 1 Gene in Families with Cutis Laxa Type 2

(2009) Duane L. Guernsey et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Lessons from cutis laxa syndromes: wrinkles due to improper reloading of the extracellular matrix?

(2009) Uwe Kornak   EUROPEAN JOURNAL OF HUMAN GENETICS

Autosomal recessive cutis laxa syndrome revisited

(2009) Éva Morava et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mutations in PYCR1 cause cutis laxa with progeroid features

(2009) Bruno Reversade et al.   NATURE GENETICS

Cyclophilin A enhances vascular oxidative stress and the development of angiotensin II–induced aortic aneurysms

(2009) Kimio Satoh et al.   NATURE MEDICINE

A missense mutation in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome

(2008) Louise S Bicknell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin

(2008) Hans Christian Hennies et al.   NATURE GENETICS

Proline modulates the intracellular redox environment and protects mammalian cells against oxidative stress

(2007) Navasona Krishnan et al.   FREE RADICAL BIOLOGY AND MEDICINE