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| MUTATIONS IN THE PTS1 RECEPTOR GENE, PXR1, DEFINE COMPLEMENTATION GROUP-2 OF THE PEROXISOME BIOGENESIS DISORDERS |
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| Author(s): DODT G, BRAVERMAN N, WONG C, MOSER A, MOSER HW, WATKINS P, VALLE D, GOULD SJ |
| Source: NATURE GENETICS Volume: 9 Issue: 2 Pages: 115-125 Published: FEB 1995 |
| Times Cited: 310 References: 62 |
| Abstract: The peroxisome biogenesis disorders (PBDs) are lethal recessive diseases caused by defects in peroxisome assembly. We have isolated PXR1, a human homologue of the yeast P. pastoris PAS8 (peroxisome assembly) gene. PXR1, like PAS8, encodes a receptor for proteins with the type-1 peroxisomal targeting signal (PTSI). Mutations in PXR1 define complementation group 2 of PBDs and expression of PXR1 rescues the PTS1 import defect of fibroblasts from these patients. Based on the observation that PXR1 exists both in the cytosol and in association with peroxisomes, we propose that PXR1 protein recognizes PTS1-containing proteins in the cytosol and directs them to the peroxisome. |
| Document Type: Article |
| Language: English |
Addresses:
1. JOHNS HOPKINS UNIV HOSP, SCH MED, KENNEDY KRIEGER RES INST, BALTIMORE, MD 21205 USA
2. JOHNS HOPKINS UNIV, SCH MED, DEPT CELL BIOL & ANAT, BALTIMORE, MD 21205 USA
3. JOHNS HOPKINS UNIV, SCH MED, DEPT PEDIAT, BALTIMORE, MD 21205 USA
4. JOHNS HOPKINS UNIV, SCH MED, DEPT NEUROL, BALTIMORE, MD 21205 USA
5. JOHNS HOPKINS UNIV, SCH MED, HOWARD HUGHES MED INST, BALTIMORE, MD 21205 USA |
| Publisher: NATURE PUBLISHING CO, 345 PARK AVE SOUTH, NEW YORK, NY 10010-1707 |
| Subject Category: Genetics & Heredity |
| IDS Number: QE672 |
| ISSN: 1061-4036 |
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| | | | | | | | | Record from Web of Science® | | | | | | | | | |