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Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function
Barbon, E,
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Bussani, E,
Rogalska, ME
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PLoS Genet. |
2016 |
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Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B
Komar, AA,
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Zhu, L,
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Hunt, R
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J. Med. Genet. |
2017 |
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Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B
Pinotti, M,
Branchini, A,
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Ferrarese, M,
Bernardi, F,
Balestra, D
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Hum. Mutat. |
2018 |
22618954 |
Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations
Campioni, M,
Caruso, P,
Castaman, G,
Pinotti, M,
Bernardi, F,
Belvini, D,
Canella, A,
Giacomelli, S,
Tagariello, G
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Hum. Mutat. |
2012 |
29993188 |
The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation
Bernardi, F,
Pignani, S,
Todaro, A,
Pinotti, M,
Marchi, S,
Pinton, P,
Balestra, D,
Lombardi, S,
Ferrarese, M,
Branchini, A
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J. Thromb. Haemost. |
2018 |
23994528 |
Replacement of the Y450 (c234) phenyl ring in the carboxyl-terminal region of coagulation factor IX causes pleiotropic effects on secretion and enzyme activity
Biondo, F,
Campioni, M,
Bicocchi, MP,
Mazzucconi, MG,
Pinotti, M,
Branchini, A,
Bernardi, F,
Mari, R
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FEBS Lett. |
2013 |
31102861 |
Apparent synonymous mutation F9 c.87A>G causes secretion failure by in-frame mutation with aberrant splicing
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Hayakawa, F,
Tokoro, M,
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Suzuki, S,
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Hattori, Y,
Kakihara, M,
Kanematsu, T,
Okamoto, S,
Takagi, A
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Thromb. Res. |
2019 |
28196793 |
Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations
Campioni, M,
Castaman, G,
Pinotti, M,
Ferrarese, M,
Branchini, A,
Bernardi, F,
Mari, R
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Blood |
2017 |
9100030 |
The carboxyl-terminal region of factor IX is essential for its secretion
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Kurachi, S
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Biochemistry |
1997 |
31257730 |
Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants
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Hunt, R,
Katagiri, NH,
Holcomb, D,
Liss, A
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Mol Genet Genomic Med |
2019 |
15219198 |
Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion
Rodriguez, MH,
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Negrier, C,
Attali, O,
Plantier, JL
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