Two novel missense mutations in the ATP-binding domain of the adrenoleukodystrophy gene: immunoblotting and immunocytological study of two patients
- 28 June 2008
- journal article
- Published by Wiley in Clinical Genetics
- Vol. 51 (5) , 322-325
Abstract
Two novel missense mutations, 1939G to A (R518Q) and 20I7A to G (Q544R) were identified in Japanese patients with adrenoleukodystrophy (ALD). They are located in exon 6, which encodes part of the putative adenosine triphosphate binding domain of ALD protein. The ALD protein carrying the R518Q mutation was undetectable in fibroblasts, by immunoblot and immunofluorescence analysis, white the Q544R mutation had no apparent effect on the stability and localization of the ALD protein, but is expected to affect its function.Keywords
This publication has 10 references indexed in Scilit:
- Identification of mutations in the ALD-gene of 20 families with adrenoleukodystrophy/adrenomyeloneuropathyHuman Genetics, 1996
- Identification of a novel frameshift mutation in a Japanese adrenoleukodystrophy patientHuman Molecular Genetics, 1995
- Mutational analysis of patients with X-linked adrenoleukodystrophyHuman Mutation, 1995
- Identification of mutations in the putative ATP-binding domain of the adrenoleukodystrophy gene.Journal of Clinical Investigation, 1994
- Identification of a Nonsense Mutation in ALD Protein cDNA from a Patient with AdrenoleukodystrophyBiochemical and Biophysical Research Communications, 1994
- Putative X-linked adrenoleukodystrophy gene shares unexpected homology with ABC transportersNature, 1993
- Mutations in the 70K peroxisomal membrane protein gene in Zellweger syndromeNature Genetics, 1992
- Structural model of ATP-binding proteing associated with cystic fibrosis, multidrug resistance and bacterial transportNature, 1990
- Nonspecific lipid transfer protein (Sterol carrier protein-2) defective in patients with deficient peroxisomes.Cell Structure and Function, 1990
- Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4Nature, 1970