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Results: 1 to 20 of 45

1.

The amyloidogenic V122I transthyretin variant in elderly black Americans.

Quarta CC, Buxbaum JN, Shah AM, Falk RH, Claggett B, Kitzman DW, Mosley TH, Butler KR, Boerwinkle E, Solomon SD.

N Engl J Med. 2015 Jan 1;372(1):21-9. doi: 10.1056/NEJMoa1404852.

PMID:
25551524
[PubMed - indexed for MEDLINE]
2.

Quantification of quaternary structure stability in aggregation-prone proteins under physiological conditions: the transthyretin case.

Robinson LZ, Reixach N.

Biochemistry. 2014 Oct 21;53(41):6496-510. doi: 10.1021/bi500739q. Epub 2014 Oct 7.

PMID:
25245430
[PubMed - indexed for MEDLINE]
3.

The importance of a gatekeeper residue on the aggregation of transthyretin: implications for transthyretin-related amyloidoses.

Sant'Anna R, Braga C, Varejão N, Pimenta KM, Graña-Montes R, Alves A, Cortines J, Cordeiro Y, Ventura S, Foguel D.

J Biol Chem. 2014 Oct 10;289(41):28324-37. doi: 10.1074/jbc.M114.563981. Epub 2014 Aug 1.

PMID:
25086037
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

The systemic amyloid precursor transthyretin (TTR) behaves as a neuronal stress protein regulated by HSF1 in SH-SY5Y human neuroblastoma cells and APP23 Alzheimer's disease model mice.

Wang X, Cattaneo F, Ryno L, Hulleman J, Reixach N, Buxbaum JN.

J Neurosci. 2014 May 21;34(21):7253-65. doi: 10.1523/JNEUROSCI.4936-13.2014.

PMID:
24849358
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

Effect of MPO/H2O2/NO(-) system on nitric oxide-mediated modification of TTR amyloid and serum TTR in FAP ATTR Val30Met patients.

Liu JP, Wang QY, Zheng F, Lu JH, Ge P, Gu YJ, Sun XG.

Genet Mol Res. 2014 Apr 3;13(2):2368-76. doi: 10.4238/2014.April.3.9.

PMID:
24781992
[PubMed - indexed for MEDLINE]
Free Article
6.

THAOS: gastrointestinal manifestations of transthyretin amyloidosis - common complications of a rare disease.

Wixner J, Mundayat R, Karayal ON, Anan I, Karling P, Suhr OB; THAOS investigators.

Orphanet J Rare Dis. 2014 Apr 27;9:61. doi: 10.1186/1750-1172-9-61.

PMID:
24767411
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

Mutation and low pH effect on the stability as well as unfolding kinetics of transthyretin dimer.

Xue Q, Zheng QC, Zhang JL, Cui YL, Chu WT, Zhang HX.

Biophys Chem. 2014 May;189:8-15. doi: 10.1016/j.bpc.2014.02.002. Epub 2014 Mar 3.

PMID:
24632442
[PubMed - indexed for MEDLINE]
8.

The pathologic spectrum of oculoleptomeningeal amyloidosis with Val30Gly transthyretin gene mutation in a postmortem case.

Martin SE, Benson MD, Hattab EM.

Hum Pathol. 2014 May;45(5):1105-8. doi: 10.1016/j.humpath.2013.10.037. Epub 2014 Jan 2.

PMID:
24613567
[PubMed - indexed for MEDLINE]
9.

Gene expression profile in hereditary transthyretin amyloidosis: differences in targeted and source organs.

Norgren N, Olsson M, Nyström H, Ericzon BG, de Tayrac M, Genin E, Planté-Bordeneuve V, Suhr OB.

Amyloid. 2014 Jun;21(2):113-9. doi: 10.3109/13506129.2014.894908. Epub 2014 Mar 7.

PMID:
24601850
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

Chinese familial transthyretin amyloidosis with vitreous involvement is associated with the transthyretin mutation Gly83Arg: a case report and literature review.

Yin J, Xia X, Shi Y, Lu Y, Zhao C, Huang Z, Tian N.

Amyloid. 2014 Jun;21(2):140-2. doi: 10.3109/13506129.2014.892871. Epub 2014 Mar 6. Review. No abstract available.

PMID:
24601824
[PubMed - indexed for MEDLINE]
11.

Frequency of the transthyretin Val30Met mutation in the northern Swedish population.

Olsson M, Jonasson J, Cederquist K, Suhr OB.

Amyloid. 2014 Mar;21(1):18-20. doi: 10.3109/13506129.2013.860027. Epub 2014 Feb 6.

PMID:
24555660
[PubMed - indexed for MEDLINE]
12.

The Aβ-clearance protein transthyretin, like neprilysin, is epigenetically regulated by the amyloid precursor protein intracellular domain.

Kerridge C, Belyaev ND, Nalivaeva NN, Turner AJ.

J Neurochem. 2014 Aug;130(3):419-31. doi: 10.1111/jnc.12680. Epub 2014 Mar 12.

PMID:
24528201
[PubMed - indexed for MEDLINE]
13.

A compound T60A and V122I heterozygosity in the transthyretin gene causing early onset severe cardiac amyloidosis.

Liu YC, Reddi HV, Waheed S, Alapat D, Highsmith WE, Edmondson RD, Barlogie B, van Rhee F.

Amyloid. 2014 Jun;21(2):134-5. doi: 10.3109/13506129.2014.883373. Epub 2014 Feb 11. No abstract available.

PMID:
24517438
[PubMed - indexed for MEDLINE]
14.

Multimodal retinal imaging in a Chinese kindred with familial amyloid polyneuropathy secondary to transthyretin Ile107Met mutation.

Lv W, Chen J, Chen W, Hou P, Pang CP, Chen H.

Eye (Lond). 2014 Apr;28(4):452-8. doi: 10.1038/eye.2014.10. Epub 2014 Jan 31.

PMID:
24480837
[PubMed - indexed for MEDLINE]
15.

Proteolytic cleavage of Ser52Pro variant transthyretin triggers its amyloid fibrillogenesis.

Mangione PP, Porcari R, Gillmore JD, Pucci P, Monti M, Porcari M, Giorgetti S, Marchese L, Raimondi S, Serpell LC, Chen W, Relini A, Marcoux J, Clatworthy IR, Taylor GW, Tennent GA, Robinson CV, Hawkins PN, Stoppini M, Wood SP, Pepys MB, Bellotti V.

Proc Natl Acad Sci U S A. 2014 Jan 28;111(4):1539-44. doi: 10.1073/pnas.1317488111. Epub 2014 Jan 13.

PMID:
24474780
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Novel drugs targeting transthyretin amyloidosis.

Hanna M.

Curr Heart Fail Rep. 2014 Mar;11(1):50-7. doi: 10.1007/s11897-013-0182-4. Review.

PMID:
24464360
[PubMed - indexed for MEDLINE]
17.

Ultrasound evaluation in transthyretin-related amyloid neuropathy.

Granata G, Luigetti M, Coraci D, Del Grande A, Romano A, Bisogni G, Bramanti P, Rossini PM, Sabatelli M, Padua L.

Muscle Nerve. 2014 Sep;50(3):372-6. doi: 10.1002/mus.24168. Epub 2014 Jun 16.

PMID:
24395461
[PubMed - indexed for MEDLINE]
18.

Structure-based analysis of A19D, a variant of transthyretin involved in familial amyloid cardiomyopathy.

Ferreira P, Sant'Anna R, Varejão N, Lima C, Novis S, Barbosa RV, Caldeira CM, Rumjanek FD, Ventura S, Cruz MW, Foguel D.

PLoS One. 2013 Dec 17;8(12):e82484. doi: 10.1371/journal.pone.0082484. eCollection 2013. Erratum in: PLoS One. 2013;8(12). doi:10.1371/annotation/2ea264c2-d70c-4a2e-b877-c084dc3a49db. Sant'Anna, Oliveira [corrected to Sant'Anna, Ricardo].

PMID:
24358189
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Novel mutation p.A64D in the Serpina7 gene as a cause of partial thyroxine-binding globulin deficiency associated with increases affinity in transthyretin by a known p.A109T mutation in the TTR gene.

Sklate RT, Olcese MC, Maccallini GC, Sarmiento RG, Targovnik HM, Rivolta CM.

Horm Metab Res. 2014 Feb;46(2):100-8. doi: 10.1055/s-0033-1358741. Epub 2013 Dec 19.

PMID:
24356794
[PubMed - indexed for MEDLINE]
20.

Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life.

Reddi HV, Jenkins S, Theis J, Thomas BC, Connors LH, Van Rhee F, Highsmith WE Jr.

J Mol Diagn. 2014 Jan;16(1):68-74. doi: 10.1016/j.jmoldx.2013.08.001. Epub 2013 Oct 30.

PMID:
24184229
[PubMed - indexed for MEDLINE]
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