Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson Gilford Progeria Syndrome (HGPS) is a devastating accelerated aging disease caused by LMNA gene mutation.
|
31834988 |
2020 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Here, we created a mouse model in which progerin, the lamin A mutant protein that causes Hutchinson-Gilford progeria syndrome (HGPS), can be inducibly overexpressed.
|
31833196 |
2020 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The transgenic Lmna<sup>G609G</sup> progeric mouse represents an outstanding animal model for studying the human Hutchinson-Gilford Progeria Syndrome (HGPS) caused by a mutation in the LMNA gene, coding for the nuclear envelope protein Lamin A/C, and, as an important, more general scope, for studying the complex process governing physiological aging in humans.
|
31794853 |
2020 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Premature cardiac death and aging is the hallmark of Hutchinson-Gilford syndrome (HGPS), a disease caused by defined mutations in the lamin A gene leading to a shortened prelamin A protein known as progerin.
|
31018503 |
2019 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Background Hutchinson-Gilford progeria syndrome (HGPS) is a rare disease caused by pathogenic variants in the LMNA gene, which leads to premature aging.
|
31199775 |
2019 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Mutations in LMNA have been linked to premature aging disorders, including Hutchinson-Gilford progeria syndrome (HGPS).
|
30900948 |
2019 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The classical mutation in HGPS leads to the production of a toxic truncated version of lamin A, progerin, which retains a farnesyl group.
|
31041622 |
2019 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Aberrant splicing in exon 11 of the LMNA gene causes the premature aging disorder Hutchinson-Gilford Progeria Syndrome.
|
31006814 |
2019 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
LMNA mutations lead to degenerative disorders known as laminopathies, including the premature aging disease Hutchinson-Gilford progeria syndrome.
|
31647095 |
2019 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The Hutchinson-Gilford progeria syndrome (HGPS) is a premature aging disease caused by mutations of the <i>LMNA</i> gene leading to increased production of a partially processed form of the nuclear fibrillar protein lamin A - progerin.
|
31156709 |
2019 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson-Gilford progeria syndrome (HGPS) is characterized by accelerated senescence due to a de novo mutation in the LMNA gene.
|
31152494 |
2019 |
Progeria
|
1.000 |
Biomarker
|
disease |
BEFREE |
We further showed that lamin A/C-HDAC2 interaction is altered in Hutchinson-Gilford Progeria syndrome and other progeroid laminopathies.
|
30766871 |
2019 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson-Gilford progeria syndrome (HGPS) is the result of a defective form of the lamin A protein called progerin.
|
31128203 |
2019 |
Progeria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Here we show that reduction of lamin A/progerin by a single-dose systemic administration of adeno-associated virus-delivered CRISPR-Cas9 components suppresses HGPS in a mouse model.
|
30778240 |
2019 |
Progeria
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Lamin A buffers CK2 kinase activity to modulate aging in a progeria mouse model.
|
30906869 |
2019 |
Progeria
|
1.000 |
Biomarker
|
disease |
BEFREE |
Immunostaining for Lamin A revealed nuclear dysmorphology in HGPS iPSC-ECs.
|
31411525 |
2019 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson-Gilford Progeria (HGPS) is an accelerated aging syndrome caused by a mutation in lamin A and one of the best studied laminopathies.
|
31727429 |
2019 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Hutchinson-Gilford progeria syndrome (HGPS) is a rare genetic disorder caused by progerin, a mutant lamin A variant.
|
30862662 |
2019 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Currently, 90% of the patients are said to have de novo point mutations in the LMNA gene that substitute cytosine with thymine and have been found in individuals with HGPS.
|
28660486 |
2018 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Previous work has shown that treatment of HGPS cells with the mTOR inhibitor rapamycin or with the rapamycin analog everolimus corrects several of the phenotypes seen at the cellular level-at least in part by increasing autophagy and reducing the amount of progerin, the toxic form of lamin A that is overproduced in HGPS patients.
|
29581305 |
2018 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
HGPS is one of several progeroid syndromes caused by mutations in the LMNA gene encoding the nuclear structural proteins lamins A and C. In classic HGPS the mutation G608G leads to the formation of a toxic lamin A protein called progerin.
|
29907918 |
2018 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
HGPS is caused by a point mutation in lamin A (LMNA) gene, resulting in the production of a truncated protein product-progerin.
|
29476423 |
2018 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Most cases of HGPS have been linked to the extensive use of a cryptic splice donor site located in the LMNA gene due to a de novo mutation, generating a truncated and toxic protein known as progerin.
|
30037605 |
2018 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Cellular senescence is a hallmark of normal aging and aging-related syndromes, including the premature aging disorder Hutchinson-Gilford Progeria Syndrome (HGPS), a rare genetic disorder caused by a single mutation in the LMNA gene that results in the constitutive expression of a truncated splicing mutant of lamin A known as progerin.
|
29429991 |
2018 |
Progeria
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The premature aging disease Hutchinson-Gilford syndrome (HGPS) is also caused by defined mutations in the LMNA gene resulting in activation of a cryptic splice donor site leading to a defective truncated prelamin A protein called progerin.
|
29702688 |
2018 |