Article
Temperature-sensitive mutation in PEX1 moderates the phenotypes of peroxisome deficiency disorders.
Human molecular genetics - 1 Dec 1998
Imamura A, Tamura S, Shimozawa N, Suzuki Y, Zhang Z, Tsukamoto T, Orii T, Kondo N, Osumi T, Fujiki Y
Abstract excerpt
The peroxisome biogenesis disorders (PBDs), including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), are autosomal recessive diseases caused by deficiency of peroxisome assembly as well as malfunction of peroxisomes, where >10 genotypes have been...
Topics
- ATPases Associated with Diverse Cellular Activities
- Amino Acid Substitution
- Animals
- CHO Cells
- Cricetinae
- DNA Mutational Analysis
- DNA, Complementary
- Fibroblasts
- Humans
- Membrane Proteins
- Microbodies
- Mutation
- Mutation, Missense
- Peroxisomal Disorders
- Phenotype