Article
Obesity and impaired prohormone processing associated with mutations in the human prohormone convertase 1 gene.
Nature genetics - 1 Jul 1997
Jackson R S, Creemers J W, Ohagi S, Raffin-Sanson M L, Sanders L, Montague C T, Hutton J C, O'Rahilly S
Abstract excerpt
Human obesity has an inherited component, but in contrast to rodent obesity, precise genetic defects have yet to be defined. A mutation of carboxypeptidase E (CPE), an enzyme active in the processing and sorting of prohormones, causes obesity in the fat/fat mouse. We have previously described a w...
Topics
- Amino Acid Sequence
- Animals
- Aspartic Acid Endopeptidases
- CHO Cells
- Carboxypeptidase H
- Carboxypeptidases
- Cricetinae
- Endoplasmic Reticulum
- Female
- Fluorescent Antibody Technique
- Heterozygote
- Humans
- Mice
- Mice, Inbred Strains
- Microscopy, Fluorescence
- Molecular Sequence Data
- Mutation
- Obesity