A missense mutation in the αB-crystallin chaperone gene causes a desmin-related myopathy
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Goebel, H. & Fardeau, M. Familial Desmin-related myopathies and cardiomyopathies from myopathology to molecular and clinical genetics. Neuromuscul. Disord. 6, 383–388 (1996).
Fuchs, E. & Cleveland, D. A structural scaffolding of intermediate filaments in health and disease. Science 279, 514–519 (1998).
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).
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).
Graw, J. The crystallins: genes, proteins and diseases. Biol. Chem. 378, 1331–1348 (1997).
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).
Rappaport, L. et al. Storage of phosphorylated desmin in a familial myopathy. FEBS Lett. 231, 421–425 (1988).
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).
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. Genome 4, 104–108 (1993).
Collins, A., Frézal, J., Teague, J. & Morton, N.E. A metric map of humans: 23,500 loci in 850 bands. Proc. Natl Acad. Sci. USA 93, 14771–14775 (1996).
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).
Bennardini, F., Wrzosck, A. & Chiesi, M. αB-crystallin in cardiac tissue: association with actin and desmin filaments. Circ. Res. 71, 288–294 (1992).
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).
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).
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).
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).
Martin, J., Mestril, R., Hilaldandan, R., Brunton, L. & Dillmann, W. Small heat shock proteins and protection against ischemic injury in cardiac myocytes. Circulation 96, 4343–4348 (1997).
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).
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).
Lobrinus, J.A. et al. Familial cardiomyopathy and distal myopathy with an abnormal desmin accumulation and migration. Neuromuscul. Disord. 8, 77–86 (1998).
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).
Baeta, A., Figarella-Branger, D., Bille-Turc, F., Lepidi, H. & Pellissier, J.-F. Familial desmin myopathies and cytoplasmic body myopathies. Acta Neuropathol 92, 499–510 (1996).
Horowitz, S. & Schmalbruch, H. Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. Muscle Nerve 17, 151–160 (1994).
Iwaki, T., Kume-Iwaki, A., Liem, R. & Goldman, J. αB-crystallin is expressed in non-lenticular tissues and accumulates in Alexander's disease brain. Cell 57, 71–78 (1989).
Kato, S. et al. Pathological characterization of astrocytic hyaline inclusions in familial amyotrophic lateral sclerosis. Am. J. Pathol. 151, 611–620 (1997).
Dib, C. et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 14, 152–154 (1996).
Gyapay, G., Ginot, F., Nguyen, S., Vignal, A. & Weissenbach, J. Genotyping procedures in linkage mapping. Meth. Enzymol. 9, 91–97 (1996).
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).
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).