|
Amyloidosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
The results obtained in the present study demonstrate the stabilization of heterotetramers by T119M TTR in human cells and suggest that gene transfer of T119M TTR may have potential as a gene therapy for TTR amyloidosis.
|
19065606 |
2009 |
|
Amyloidosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
To study conformational changes preceding the formation of amyloid, we performed molecular dynamics simulations of the wild-type monomer, amyloidogenic variants (V30M, L55P, V122I) and a protective variant (T119M) at neutral and low pH.
|
18276611 |
2008 |
|
Amyloidosis
|
|
0.030 |
GeneticVariation
|
BEFREE |
Since T119M-TTR subunit incorporation into tetramers otherwise composed of disease-associated subunits also imparts kinetic stability on the tetramer and ameliorates amyloidosis in humans, it is likely that small molecule-mediated native state kinetic stabilization will also alleviate TTR amyloidoses.
|
16359163 |
2005 |
|
Central neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Cytotoxicity assays revealed their toxicities in the order of Val30Met > Ala97Ser > WT > Thr119Met in neuroblastoma cells.
|
31728576 |
2019 |
|
Childhood Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Cytotoxicity assays revealed their toxicities in the order of Val30Met > Ala97Ser > WT > Thr119Met in neuroblastoma cells.
|
31728576 |
2019 |
|
Neuroblastoma
|
|
0.010 |
GeneticVariation
|
BEFREE |
Cytotoxicity assays revealed their toxicities in the order of Val30Met > Ala97Ser > WT > Thr119Met in neuroblastoma cells.
|
31728576 |
2019 |
|
Vascular Diseases
|
|
0.010 |
GeneticVariation
|
BEFREE |
We genotyped for 2 stabilizing genetic variants in the transthyretin gene (TTR), R104H and T119M, and determined the association of genotypes with plasma levels of transthyretin, measures of thyroid function, risk of vascular disease, and life expectancy.
|
23580146 |
2013 |
|
Amyloid Neuropathies, Familial
|
|
0.010 |
GeneticVariation
|
BEFREE |
The Val30 --> Met30 (V30M) TTR mutation is the most prevalent cause of familial amyloid polyneuropathy in heterozygotes, whereas a Thr119 --> Met119 (T119M) mutation on the second TTR allele protects V30M carriers from disease.
|
11577236 |
2001 |
|
AMYLOIDOSIS, HEREDITARY, TRANSTHYRETIN-RELATED
|
|
0.010 |
GeneticVariation
|
BEFREE |
In addition, we have characterized the Thr-119-Met TTR variant, which is a common nonpathogenic variant in the Portuguese population, to further investigate the role that this mutation plays in protecting individuals who also carry the Val-30-Met mutation against the classically severe FAP pathology.
|
7577941 |
1995 |
|
Adenomatous Polyposis Coli
|
|
0.010 |
GeneticVariation
|
BEFREE |
In addition, we have characterized the Thr-119-Met TTR variant, which is a common nonpathogenic variant in the Portuguese population, to further investigate the role that this mutation plays in protecting individuals who also carry the Val-30-Met mutation against the classically severe FAP pathology.
|
7577941 |
1995 |