Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro-Reference-Cited by-同舟云学术

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Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro

Published:2005-03-30 Issue:10 Volume:14 Page:1251-1260
ISSN:1460-2083
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Bär Harald,Fischer Dirk,Goudeau Bertrand,Kley Rudolf A.,Clemen Christoph S.,Vicart Patrick,Herrmann Harald,Vorgerd Matthias,Schröder Rolf

Publisher

Oxford University Press (OUP)

Subject

Genetics(clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/article-pdf/14/10/1251/1765023/ddi136.pdf

Reference51 articles.

1. Gache, Y., Chavanas, S., Lacour, J.P., Wiche, G., Owaribe, K., Meneguzzi, G. and Ortonne, J.P. (1996) Defective expression of plectin/HD1 in epidermolysis bullosa simplex with muscular dystrophy. J. Clin. Invest., 97, 2289–2298.

2. Uitto, J., Pulkkinen, L., Smith, F.J. and McLean, W.H. (1996) Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy. Exp. Dermatol., 5, 237–246.

3. Schröder, R., Kunz, W.S., Rouan, F., Pfendner, E., Tolksdorf, K., Kappes-Horn, K., Altenschmidt-Mehring, M., Knoblich, R., Van Der Ven, P.F., Reimann, J. et al. (2002) Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy. J. Neuropathol. Exp. Neurol., 61, 520–530.

4. Clarkson, E., Costa, C.F. and Machesky, L.M. (2004) Congenital myopathies: diseases of the actin cytoskeleton. J. Pathol., 204, 407–417.

5. Goldfarb, L.G., Park, K.Y., Cervenakova, L., Gorokhova, S., Lee, H.S., Vasconcelos, O., Nagle, J.W., Semino-Mora, C., Sivakumar, K. and Dalakas, M.C. (1998) Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nat. Genet., 19, 402–403.

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1. Immortalised murine R349P desmin knock-in myotubes exhibit a reduced proton leak and decreased ADP/ATP translocase levels in purified mitochondria;European Journal of Cell Biology;2024-06

2. Pathophysiological mechanisms of cardiomyopathies induced by desmin gene variants located in the C‐Terminus of segment 2B;Journal of Cellular Physiology;2024-03-19

3. Functional Characterization of a Novel Genetic Variant in Desmin (p.Glu353dup) Causing Myofibrillar Myopathy and Generation of Patient-Derived Induced Pluripotent Stem Cells for Disease Modeling;2023-12-28

4. Immortalised murine R349P desmin knock-in myotubes exhibit a reduced proton leak and decreased ADP/ATP translocase levels in purified mitochondria;2023-11-10

5. Atlas ofDES(desmin) variants: Impact of variants located within the head domain on filament assembly;2023-08-12

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