A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy (original) (raw)
References
Goebel, H. & Fardeau, M. Familial Desmin-related myopathies and cardiomyopathies from myopathology to molecular and clinical genetics. Neuromuscul. Disord.6, 383–388 (1996). ArticleCAS Google Scholar
Fuchs, E. & Cleveland, D. A structural scaffolding of intermediate filaments in health and disease. Science279, 514–519 (1998). ArticleCAS Google Scholar
Bhat, S. & Nagineni, C. αB subunit of lens-specific protein α-crystallin is present in other ocular and nonocular tissue. Biochem. Biophys. Res. Commun.158, 319–325 (1989). ArticleCAS Google Scholar
Dubin, R., Wawrousek, E. & Piatigorsky, J. Expression of the murine αB-crystallin is not restricted to the lens. Mol. Cell Biol.9, 1083–1091 (1989). ArticleCAS Google Scholar
Graw, J. The crystallins: genes, proteins and diseases. Biol. Chem.378, 1331–1348 (1997). CASPubMed Google Scholar
Fardeau, M. et al. Une nouvelle affection musculaire familiale définie par l’accumulation intra-sarcoplasmique d’un matériel granulofilamentaire dense en microscopie electronique. Rev. Neurol. (Paris)134, 411–425 (1978). CAS Google Scholar
Rappaport, L. et al. Storage of phosphorylated desmin in a familial myopathy. FEBS Lett.231, 421–425 (1988). ArticleCAS Google Scholar
Vicart, P. et al. Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy. Hum. Genet.98, 422–429 (1996). ArticleCAS Google Scholar
JeanPierre, C., Austry, E., Delattre, O., Jones, C. & Junien, C. Subregional physical mapping of an αβ-crystallin sequence and of a new expressed sequence D11S877E to human 11q. Mamm. Genome4, 104–108 (1993). ArticleCAS Google Scholar
Collins, A., Frézal, J., Teague, J. & Morton, N.E. A metric map of humans: 23,500 loci in 850 bands. Proc. Natl Acad. Sci. USA93, 14771–14775 (1996). ArticleCAS Google Scholar
Li, Z. et al. Desmin is essential for the tensile strength and integrity of myofibrils but not for myogenic commitment, differentiation, and fusion of skeletal muscle. J. Cell Biol.139, 129–144 (1997). ArticleCAS Google Scholar
Bennardini, F., Wrzosck, A. & Chiesi, M. αB-crystallin in cardiac tissue: association with actin and desmin filaments. Circ. Res.71, 288–294 (1992). ArticleCAS Google Scholar
Djabali, K., deNéchaud, B., Landon, F. & Portier, M. αB-crystallin interacts with intermediate filaments in response to stress. J. Cell Sci.110, 2759–2769 (1997). PubMed Google Scholar
Liao, J., Hung, C., Lee, J., Wu, S. & Chiou, S. Characterization, cloning, and expression of porcine alpha-B crystallin. Biochem. Biophys. Res. Commun.244, 131–137 (1998). ArticleCAS Google Scholar
Suzuki, A. et al. MKBP, a novel member of the small heat shock protein family, binds and activates the myotonic dystrophy protein kinase. J. Cell Biol.140, 1113–1124 (1998). ArticleCAS Google Scholar
Litt, M. et al. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum. Mol. Genet.7, 471–474 (1998). ArticleCAS Google Scholar
Martin, J., Mestril, R., Hilaldandan, R., Brunton, L. & Dillmann, W. Small heat shock proteins and protection against ischemic injury in cardiac myocytes. Circulation96, 4343–4348 (1997). ArticleCAS Google Scholar
Vandeklundert, F., Gijsen, M., Vandenijssel, P., Snoeckx, L. & Dejong, W. Alpha-B-crystallin and Hsp25 in neonatal cardiac cells. Differences in cellular localization under stress conditions. Eur. J. Cell Biol.75, 38–45 (1998). ArticleCAS Google Scholar
Neufer, P., Ordway, G. & Williams, R. Transient regulation of c-fos, α-B-crystallin, and hsp70 in muscle during recovery from contractile activity. Am. J. Physiol.43, C341–C346 (1998). Article Google Scholar
Lobrinus, J.A. et al. Familial cardiomyopathy and distal myopathy with an abnormal desmin accumulation and migration. Neuromuscul. Disord.8, 77–86 (1998). ArticleCAS Google Scholar
Bertini, E. et al. Neuropathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study. Acta Neuropathol.81, 632–640 (1991). ArticleCAS Google Scholar
Baeta, A., Figarella-Branger, D., Bille-Turc, F., Lepidi, H. & Pellissier, J.-F. Familial desmin myopathies and cytoplasmic body myopathies. Acta Neuropathol92, 499–510 (1996). ArticleCAS Google Scholar
Horowitz, S. & Schmalbruch, H. Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. Muscle Nerve17, 151–160 (1994). ArticleCAS Google Scholar
Iwaki, T., Kume-Iwaki, A., Liem, R. & Goldman, J. αB-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain. Cell57, 71–78 (1989). ArticleCAS Google Scholar
Kato, S. et al. Pathological characterization of astrocytic hyaline inclusions in familial amyotrophic lateral sclerosis. Am. J. Pathol.151, 611–620 (1997). CASPubMedPubMed Central Google Scholar
Dib, C. et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature14, 152–154 (1996). Article Google Scholar
Gyapay, G., Ginot, F., Nguyen, S., Vignal, A. & Weissenbach, J. Genotyping procedures in linkage mapping. Meth. Enzymol.9, 91–97 (1996). ArticleCAS Google Scholar
Vignal, A. et al. Non-radioactive multiplex procedure for genotyping of microsatellite markers. in Meth. Mol. Genet. (ed. Adolph, K.W.) 211–221 (Academic Press, New York, 1993). Google Scholar
Helbling-Leclerc, A. et al. Mutations in the laminin α 2-chain gene (LAMA2) cause merosin- deficient congenital muscular dystrophy. Nature Genet.11, 216–218 (1995). ArticleCAS Google Scholar
Tilney, L. & Portnoy, D. Actin filaments and the growth, movement and spread of the intracellular bacterial parasite, Listeria monocytogenes. J. Cell Biol.109, 1597–1608 (1989). ArticleCAS Google Scholar