Polymorphic Fibrillation of the Destabilized Fourth Fasciclin-1 Domain Mutant A546T of the Transforming Growth Factor-β-induced Protein (TGFBIp) Occurs through Multiple Pathways with Different Oligomeric Intermediates

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Mutations in the transforming growth factor β induced protein (TGFBIp) are linked to the development of corneal dystrophies, in which abnormal protein deposition in the cornea leads to a loss of corneal transparency and ultimately blindness. Different mutations give rise to phenotypically distinct corneal dystrophies. Most mutations are located in the 4th fasciclin-1 domain (FAS1-4). The amino acid substitution A546T in the FAS1-4 domain is linked to the development of lattice corneal dystrophy with amyloid deposits in.
OriginalsprogEngelsk
TidsskriftJournal of Biological Chemistry
Vol/bind287
Nummer41
Sider (fra-til)34730-34742
Antal sider12
ISSN0021-9258
DOI
StatusUdgivet - 5 okt. 2012

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