Phospho-Desmin (S60) Polyclonal Antibody, 100µg, (ATB-P1022)

Description

Background:

This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. [provided by RefSeq, Jul 2008]

Desmin are class-III intermediate filaments found in muscle cells. In adult striated muscle they form a fibrous network connecting myofibrils to each other and to the plasma membrane from the periphery of the Z-line structures.

Product datasheet:

References:

1. New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease. Nalini A, et al. Neurol India, 2013 Nov-Dec. PMID 24441330
2. The novel desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death. Brodehl A, et al. Circ Cardiovasc Genet, 2013 Dec. PMID 24200904
3. A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies. Cetin N, et al. J Med Genet, 2013 Jul. PMID 23687351
4. Desmin mutations and arrhythmogenic right ventricular cardiomyopathy. Lorenzon A, et al. Am J Cardiol, 2013 Feb 1. PMID 23168288 Free PMC Article
5. Clinical and myopathological characteristics of desminopathy caused by a mutation in desmin tail domain. Maddison P, et al. Eur Neurol, 2012. PMID 23051780 Free PMC Article
6. Human desmin-coding gene: complete nucleotide sequence, characterization and regulation of expression during myogenesis and development.
   Li Z., Lilienbaum A., Butler-Browne G., Paulin D.
   Gene 78:243-254(1989) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
7. High level desmin expression depends on a muscle-specific enhancer.
   Li Z., Paulin D.
   J. Biol. Chem. 266:6562-6570(1991) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
8. Human desmin gene: cDNA sequence, regional localization and exclusion of the locus in a familial desmin-related myopathy.
   Vicart P., Dupret J.-M., Hazan J., Li Z., Gyapay G., Krishnamoorthy R., Weissenbach J., Fardeau M., Paulin D.
   Hum. Genet. 98:422-429(1996) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [MRNA]. Tissue: Muscle.
9. Missense mutations in desmin associated with familial cardiac and skeletal myopathy.
   Goldfarb L.G., Park K.-Y., Cervenakova L., Gorokhova S., Lee H.-S., Vasconcelos O., Nagle J.W., Semino-Mora C., Sivakumar K., Dalakas M.C.
   Nat. Genet. 19:402-403(1998) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANTS MFM1 PRO-337; PRO-360 AND ILE-393.
10. Desmin mutation responsible for idiopathic dilated cardiomyopathy.
    Li D., Tapscoft T., Gonzalez O., Burch P.E., Quinones M.A., Zoghbi W.A., Hill R., Bachinski L.L., Mann D.L., Roberts R.
    Circulation 100:461-464(1999) [PubMed] [Europe PMC] Cited for: NUCLEOTIDE SEQUENCE [MRNA], VARIANT CMD1I MET-451.