A novel mutation in PYCR1 causes an autosomal recessive cutis laxa with premature aging features in a family

The role of mitochondria in apoptosis

(2011) Seon-Yong Jeong et al.   BMB Reports

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

A novel missense mutation inSCYL1BP1produces geroderma osteodysplastica phenotype indistinguishable from that caused by nullimorphic mutations

(2009) Mohammed Al-Dosari et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Bleeding in the heritable connective tissue disorders: Mechanisms, diagnosis and treatment

(2009) Fransiska Malfait et al.   BLOOD REVIEWS

Lethal cutis laxa with contractural arachnodactyly, overgrowth and soft tissue bleeding due to a novel homozygousfibulin-4gene mutation

(2009) J Hoyer et al.   CLINICAL GENETICS

Mitochondrial dynamics and neurodegeneration

(2009) Bingwei Lu   Current Neurology and Neuroscience Reports

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

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

An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism

(2009) Hala Mégarbané et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Mutations in PYCR1 cause cutis laxa with progeroid features

(2009) Bruno Reversade et al.   NATURE GENETICS

Positioning mitochondrial plasticity within cellular signaling cascades

(2008) Vincent Soubannier et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

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