Mutations in PYCR1 cause cutis laxa with progeroid features

Loss-of-function mutations in ATP6V0A2 impair vesicular trafficking, tropoelastin secretion and cell survival

(2009) V. Hucthagowder et al.   HUMAN MOLECULAR GENETICS

Geroderma osteodysplasticum hereditaria and wrinkly skin syndrome in 22 patients from Oman

(2008) Anna Rajab et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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

Mitochondrial fragmentation in neurodegeneration

(2008) Andrew B. Knott et al.   NATURE REVIEWS NEUROSCIENCE

Cobblestone-like brain dysgenesis and altered glycosylation in congenital cutis laxa, Debre type

(2008) L. Van Maldergem et al.   NEUROLOGY

Gerodermia Osteodysplastica/Wrinkly Skin Syndrome: Report of Three Patients and Brief Review of the Literature

(2008) Arti Nanda et al.   PEDIATRIC DERMATOLOGY

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

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