- Abstract:
-
Mutations in cartilage oligomeric matrix protein (COMP) cause two skeletal dysplasias, pseudoachondroplasia (PSACH) and multiple epiphyseal dysplasia (MED/EDM1). Because COMP exists as a homopentamer, only one mutant COMP subunit may result in an abnormal complex that is accumulated in expanded rough endoplasmic reticulum (rER) cisternae, a hallmark of PSACH. Type IX collagen and matrilin-3 (MATN3), also accumulate in the rER cisternae of PSACH chondrocytes, but it is unknown how mutant COMP ...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.2353/ajpath.2007.060530
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- Journal:
- The American journal of pathology
- Volume:
- 170
- Issue:
- 1
- Pages:
- 293-300
- Publication date:
- 2007-01-05
- DOI:
- EISSN:
-
1525-2191
- ISSN:
-
0002-9440
- URN:
-
uuid:e8fe6342-fdcb-42b7-916d-67306a07f9e6
- Source identifiers:
-
485153
- Local pid:
- pubs:485153
- Copyright date:
- 2007
Journal article
Unique matrix structure in the rough endoplasmic reticulum cisternae of pseudoachondroplasia chondrocytes.
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