Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
Copyright policy )Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin
Gerodermia osteodysplastica is an autosomal recessive disorder characterized by wrinkly skin and osteoporosis. Here we demonstrate that gerodermia osteodysplastica is caused by loss-of-function mutations in SCYL1BP1, which is highly expressed in skin and osteoblasts. The protein localizes to the Golgi apparatus and interacts with Rab6, identifying SCYL1BP1 as a golgin. These results associate abnormalities of the secretory pathway with age-related changes in connective tissues.
- University of Salford United Kingdom
- Manchester University NHS Foundation Trust United Kingdom
- University of L'Aquila Italy
- Children's Hospital of Philadelphia United States
- University of Münster Germany
gerodermia osteodysplactica, Male, genetics: Carrier Proteins, genetics: Chromosomes, Human, Pair 1, 610 Medicine & health, genetics: Skin Diseases, 1311 Genetics, genetics: Chromosomes, Genetic, metabolism: rab GTP-Binding Proteins, Humans, SCYL1BP1, genetics: Skin Diseases, Genetic, Golgi Matrix Proteins, Infant, Skin Diseases, Genetic, Rab-6, Pedigree, 10036 Medical Clinic, Chromosomes, Human, Pair 1, rab GTP-Binding Proteins, Pair 1, genetics: Bone Diseases, Female, Bone Diseases, Carrier Proteins, Human
gerodermia osteodysplactica, Male, genetics: Carrier Proteins, genetics: Chromosomes, Human, Pair 1, 610 Medicine & health, genetics: Skin Diseases, 1311 Genetics, genetics: Chromosomes, Genetic, metabolism: rab GTP-Binding Proteins, Humans, SCYL1BP1, genetics: Skin Diseases, Genetic, Golgi Matrix Proteins, Infant, Skin Diseases, Genetic, Rab-6, Pedigree, 10036 Medical Clinic, Chromosomes, Human, Pair 1, rab GTP-Binding Proteins, Pair 1, genetics: Bone Diseases, Female, Bone Diseases, Carrier Proteins, Human
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