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Pediatric Neurology
Volume 24, Issue 4
, Pages 257-263
, April 2001
Intermediate filament-related myopathies
References
- . Integration of intermediate filaments into cellular organelles. Int Rev Cytol. 1996;164:91–138
- . Nuclear lamins (Their structure, assembly, and interactions). J Struct Biol. 1998;122:42–66
- . Intermediate filaments and their associated proteins (Multiple dynamic personalities). Curr Opin Cell Biol. 1998;10:93–101
- . Intermediate filament-associated proteins. Curr Opin Cell Biol. 1991;3:75–81
-
A dysfunctional desmin mutation in a patient with severe generalized myopathy.
Proc Natl Acad Sci USA. 1998;95:11312–11317
- . Disruption of muscle architecture and myocardial degeneration in mice lacking desmin. J Cell Biol. 1996;134:1255–1270
- . Desmin-related myopathies. Curr Opin Neurol. 1997;10:426–429
- . Lamin B constitutes an intermediate filament attachment site at the nuclear envelope. J Cell Biol. 1987;105:117–125
- . Desmin-related neuromuscular disorders. Muscle Nerve. 1995;18:1306–1320
- . Desmin in muscle formation and maintenance (Knockouts and consequences). Cell Struct Funct. 1997;22:103–116
- The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis. Neurology. 1998;51:1646–1655
- . Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med. 2000;342:770–780
- Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat Genet. 1998;19:402–403
- 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. 1997;139:129–144
- Desmin myopathy involving cardiac, skeletal, and vascular smooth muscle (Report of a case with immunoelectron microscopy). Hum Pathol. 1998;29:876–882
- . Myofibrillar myopathy. (editorial) Ann Neurol. 1999;46:681–683
- . Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol. 1996;55:549–562
- . Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Neurol. 1996;55:563–577
- . Myofibrillar myopathy. III. Abnormal expression of cyclin-dependent kinases and nuclear proteins. J Neuropathol Exp Neurol. 1997;56:850–856
- Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy. Ann Neurol. 1996;39:507–520
- . Familial cardiac and skeletal myopathy associated with desmin accumulation. Clin Cardiol. 1994;17:277–279
- A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy. Nat Genet. 1998;20:92–95
- The cardiomyopathy and lens cataract mutation in alphaB-crystallin alters its protein structure, chaperone activity, and interaction with intermediate filaments in vitro. J Biol Chem. 1999;274:33235–33243
- The intermediate filament protein consensus motif of helix 2B (Its atomic structure and contribution to assembly). J Mol Biol. 2000;298:817–832
- Autosomal dominant myofibrillar myopathy with arrhythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol. 1999;46:684–692
-
.
Immunohistochemical and electron microscopical studies of myocardial inclusions in hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle.
Acta Neuropathol (Berl). 1999;97:185–191
-
.
Hereditary myopathy of the diaphragmatic muscles in Holstein-Friesian cattle.
Acta Neuropathol (Berl). 1995;90:339–346
- Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet. 1999;21:285–288
- . Emery-Dreifuss muscular dystrophy (Report of five cases in a family and review of the literature). Muscle Nerve. 1986;9:481–485
- . Emery-Dreifuss muscular dystrophy. Ann Neurol. 1979;5:111–117
- Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet. 1994;8:323–327
- Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet. 2000;9:1453–1459
- Loss of A-type lamin expression compromises nuclear envelope integrity leading to muscular dystrophy. J Cell Biol. 1999;147:913–920
- . Anti-vimentin staining in muscle pathology. Neuropathol Appl Neurobiol. 1993;19:414–419
- . Mice lacking vimentin develop and reproduce without an obvious phenotype. Cell. 1994;79:679–694
- Specific and innervation-regulated expression of the intermediate filament protein nestin at neuromuscular and myotendinous junctions in skeletal muscle. Am J Pathol. 1999;154:591–600
- . Myofibers from Duchenne/Becker muscular dystrophy and myositis express the intermediate filament nestin. J Neuropathol Exp Neurol. 1994;53:416–423
- . Molecular characteristics and interactions of the intermediate filament protein synemin. Interactions with alpha-actinin may anchor synemin-containing heterofilaments. J Biol Chem. 1999;274:29493–29499
- . Expression of intermediate filament-associated proteins paranemin and synemin in chicken development. J Cell Biol. 1983;97:1860–1874
- . Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy. Exp Dermatol. 1996;5:237–246
-
Hijikata T, Murakami T, Imamura M, Fujimaki N, Ishikawa H. Plectin is a linker of intermediate filaments to Z-discs in skeletal muscle fibers. J Cell Sci 1999;112(Pt 6):867.
- . Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency. J Neuropathol Exp Neurol. 1999;58:832–846
- . Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions. J Cell Biol. 1996;134:1455–1467
- . Immunolocalization of the intermediate filament-associated protein plectin at focal contacts and actin stress fibers. Eur J Cell Biol. 1992;59:138–147
- . Plectin sidearms mediate interaction of intermediate filaments with microtubules and other components of the cytoskeleton. J Cell Biol. 1996;135:991–1007
-
.
Protein kinase A- and protein kinase C-regulated interaction of plectin with lamin B and vimentin.
Proc Natl Acad Sci USA. 1991;88:3812–3816
- . Association of mitochondria with plectin and desmin intermediate filaments in striated muscle. Exp Cell Res. 1999;252:479–491
- . Plectin (A cytolinker by design). Biol Chem. 1999;380:151–158
- . Plectin (General overview and appraisal of its potential role as a subunit protein of the cytomatrix). Crit Rev Biochem Mol Biol. 1989;24:41–67
- Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet. 1996;13:450–457
- Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Hum Mol Genet. 1996;5:1539–1546
- A homozygous nonsense mutation in the PLEC1 gene in patients with epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest. 1996;98:2196–2200
- Loss of plectin causes epidermolysis bullosa with muscular dystrophy (cDNA cloning and genomic organization). Genes Dev. 1996;10:1724–1735
- Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest. 1996;97:2289–2298
- Recessive epidermolysis bullosa simplex associated with plectin mutations (Infantile respiratory complications in two unrelated cases). Br J Dermatol. 1997;137:898–906
- Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet. 1996;13:450–457
- Targeted inactivation of plectin reveals essential function in maintaining the integrity of skin, muscle, and heart cytoarchitecture. Genes Dev. 1997;11:3143–3156
PII: S0887-8994(00)00248-4
© 2001 Elsevier Science Inc. All rights reserved.
Next »
Pediatric Neurology
Volume 24, Issue 4
, Pages 257-263
, April 2001
