Loss ofALDH18A1function is associated with a cellular lipid droplet phenotype suggesting a link between autosomal recessive cutis laxa type 3A and Warburg Micro syndrome

Loss-of-Function Mutations in TBC1D20 Cause Cataracts and Male Infertility in blind sterile Mice and Warburg Micro Syndrome in Humans

(2013) Ryan P. Liegel et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PYCR1 gene in three families with autosomal recessive cutis laxa, type 2

(2013) D.Z. Scherrer et al.   European Journal of Medical Genetics

Mutation Spectrum inRAB3GAP1,RAB3GAP2, andRAB18and Genotype-Phenotype Correlations in Warburg Micro Syndrome and Martsolf Syndrome

(2013) Mark T. Handley et al.   HUMAN MUTATION

Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

(2013) Aikaterini Dimopoulou et al.   MOLECULAR GENETICS AND METABOLISM

De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction

(2012) Stefania Zampatti et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Lipid Droplets and Cellular Lipid Metabolism

(2012) Tobias C. Walther et al.   Annual Review of Biochemistry

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ1-pyrroline-5-carboxylate synthase (P5CS)

(2011) David L. Skidmore et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine

(2011) Diego Martinelli et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Metabolic cutis laxa syndromes

(2011) Miski Mohamed et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The phenotype caused by PYCR1 mutations corresponds to geroderma osteodysplasticum rather than autosomal recessive cutis laxa type 2

(2010) Yeşerin Yıldırım et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Altered Lipid Droplet Dynamics in Hepatocytes Lacking Triacylglycerol Hydrolase Expression

(2010) Huajin Wang et al.   MOLECULAR BIOLOGY OF THE CELL

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

Mutations in LTBP4 Cause a Syndrome of Impaired Pulmonary, Gastrointestinal, Genitourinary, Musculoskeletal, and Dermal Development

(2009) Zsolt Urban et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A role for ubiquitin ligases and Spartin/SPG20 in lipid droplet turnover

(2009) Scott W. Eastman et al.   JOURNAL OF CELL BIOLOGY

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

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