Výsledky vyhledávání - "Petra Blatzinger"

A new isoleucine substitution of Val-20 in transthyretin tetramers selectively impairs dimer-dimer contacts and causes systemic amyloidosis

Autor: Reinhold P. Linke, Klaus Denzel, Pia Winter, Dieter E. Jenne, Klaus Altland, Petra Blatzinger, Brigitte Obermaier

Publikováno v: Proceedings of the National Academy of Sciences. 93:6302-6307

The most frequent form of inherited amyloidoses is associated with mutations in the transthyretin (TTR) gene coding for 127-amino acid residues of four identical, noncovalently linked subunits that form a pair of dimers in the plasma protein complex.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa0ab3a5e8d77ae66f0ff4052cb7b013
https://doi.org/10.1073/pnas.93.13.6302

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A highly conservative Ile-20 substitution at the dimer-dimer interface selectively reduces stability of the tetrameric transthyretin complex and is associated with familial cardiomyopathy

Autor: Dieter E. Jenne, Brigitte Obermaier-Skrobanek, Reinhold P. Linke, Klaus Denzel, Petra Blatzinger, Klaus Altland

Publikováno v: Neuromuscular Disorders. 6:S17

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::d2dd6d171204de2c06b2fdce37741441
https://doi.org/10.1016/0960-8966(96)88819-5

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