Non-secretable F9 variant [endoplasmic reticulum lumen]

Stable Identifier
R-HSA-9670852
Type
Set [CandidateSet]
Species
Homo sapiens
Compartment
Locations in the PathwayBrowser
Literature References
PubMed ID Title Journal Year
28007939 Single synonymous mutation in factor IX alters protein properties and underlies haemophilia B

Simhadri, VL, Hamasaki-Katagiri, N, Lin, BC, Hunt, R, Jha, S, Tseng, SC, Wu, A, Bentley, AA, Zichel, R, Lu, Q, Zhu, L, Freedberg, DI, Monroe, DM, Sauna, ZE, Peters, R, Komar, AA, Kimchi-Sarfaty, C

J. Med. Genet. 2017
27227676 Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function

Tajnik, M, Rogalska, ME, Bussani, E, Barbon, E, Balestra, D, Pinotti, M, Pagani, F

PLoS Genet. 2016
29388273 Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B

Ferrarese, M, Testa, MF, Balestra, D, Bernardi, F, Pinotti, M, Branchini, A

Hum. Mutat. 2018
22618954 Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations

Pinotti, M, Caruso, P, Canella, A, Campioni, M, Tagariello, G, Castaman, G, Giacomelli, S, Belvini, D, Bernardi, F

Hum. Mutat. 2012
29993188 The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation

Pignani, S, Todaro, A, Ferrarese, M, Marchi, S, Lombardi, S, Balestra, D, Pinton, P, Bernardi, F, Pinotti, M, Branchini, A

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

Branchini, A, Campioni, M, Mazzucconi, MG, Biondo, F, Mari, R, Bicocchi, MP, Bernardi, F, Pinotti, M

FEBS Lett. 2013
31102861 Apparent synonymous mutation F9 c.87A>G causes secretion failure by in-frame mutation with aberrant splicing

Odaira, K, Tamura, S, Suzuki, N, Kakihara, M, Hattori, Y, Tokoro, M, Suzuki, S, Takagi, A, Katsumi, A, Hayakawa, F, Okamoto, S, Suzuki, A, Kanematsu, T, Matsushita, T, Kojima, T

Thromb. Res. 2019
28196793 Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations

Branchini, A, Ferrarese, M, Campioni, M, Castaman, G, Mari, R, Bernardi, F, Pinotti, M

Blood 2017
9100030 The carboxyl-terminal region of factor IX is essential for its secretion

Kurachi, S, Pantazatos, DP, Kurachi, K

Biochemistry 1997
31257730 Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants

Katneni, UK, Liss, A, Holcomb, D, Katagiri, NH, Hunt, R, Bar, H, Ismail, A, Komar, AA, Kimchi-Sarfaty, C

Mol Genet Genomic Med 2019
15219198 Two novel mutations in EGF-like domains of human factor IX dramatically impair intracellular processing and secretion

Enjolras, N, Plantier, JL, Rodriguez, MH, Rea, M, Attali, O, Vinciguerra, C, Negrier, C

J. Thromb. Haemost. 2004
Participants
Participant Of
Disease
Name Identifier Synonyms
hemophilia B 12259 factor IX deficiency, Congenital factor IX deficiency, deficiency, functional factor IX, Congenital factor IX disorder
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