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TranscriptomicsA human iPSC model of Hutchinson Gilford Progeria Syndrome reveals a possible mesenchymal stem cell defect
Hutchinson Gilford Progeria Syndrome (HGPS) is a rare, sporadic genetic disease caused by mutations in the nuclear lamin A gene. In most cases the mutation creates an efficient donor-splice site that generates an altered transcript encoding a truncated lamin A protein, progerin. In vitro studies ha...
ORGANISM(S): Homo sapiens 
2010-12-23 | E-GEOD-26093 | biostudies-arrayexpress
ProteomicsIdentify the protein partners of Ercc1 in DNA damage progeria in MEFs
ERCC1 is a DNA endonuclease participating in the Nucleotide Excision Repair (NER) pathway. Its functionality is related to XPF; the two proteins work as a heterodimer to incise the 5 of a 30-mer that contains the damaged nucleotide and remove the fragment together with XPG. Apart from NER deficiency...
ORGANISM(S): Mus musculus (Mouse) 
2023-10-04 | PXD017063 | Pride
Mefs Xpf Proteomics In vivo biotinylation tagging Ercc1 Dna damage progeria Mouse Protein-protein interactions 
TranscriptomicsTranscription profiling of S. cerevisiae sgs1 mutant and wild type strains grown under DNA damaging and control conditions
Wild type and sgs1 null yeast were grown under DNA damaging (with MMS) conditions or without treatment to log phase and their transcriptional profiles compared. The human aging diseases Werner and Bloom syndromes are a result of mutation of the WRN and BLM genes, respectively. The SGS1 gene of Sacch...
ORGANISM(S): Saccharomyces cerevisiae 
2007-07-07 | E-GEOD-423 | biostudies-arrayexpress
UnknownFarnesyltransferase inhibitor and rapamycin correct aberrant genome organisation and decrease DNA damage respectively, in Hutchinson-Gilford progeria syndrome fibroblasts.
Not available
S-EPMC6223735 | biostudies-literature
TranscriptomicsTranscriptional effects of CSB and the CSB-PGBD3 fusion protein in CSB-null UVSS1KO cells
Cockayne syndrome is a segmental progeria most often caused by mutations in the CSB gene encoding a SWI/SNF-like ATPase required for transcription-coupled DNA repair (TCR). Over 43 Mya before marmosets diverged from humans, a piggyBac3 (PGBD3) transposable element integrated into intron 5 of the CSB...
ORGANISM(S): Homo sapiens 
2014-03-20 | E-GEOD-56049 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of liver from Ercc1-/- mice and wild type littermates to investigate features of premature aging
To investigate the cause of the premature aging features in the Ercc1-/- mouse, we compared the entire transcriptome of the Ercc1-/- mouse liver to that of wildtype littermates at the age of 15 days, when the Ercc1-/- mice reached their maximal weight and had symptoms of progeria, yet overall pathol...
ORGANISM(S): Mus musculus 
2006-12-21 | E-MEXP-834 | biostudies-arrayexpress
UnknownHeterochromatin loss as a determinant of progerin-induced DNA damage in Hutchinson-Gilford Progeria.
Not available
S-EPMC7059134 | biostudies-literature
TranscriptomicsTranscription profiling of mouse model for Werner syndrome
Werner syndrome (WS) is a rare disorder characterized by the premature onset of a number of age-related diseases. The gene responsible for WS is believed to be involved in different aspects of transcription, replication, and/or DNA repair. The poly(ADP-ribose) polymerase-1 (PARP-1) enzyme is also in...
ORGANISM(S): Mus musculus 
2008-06-12 | E-GEOD-3359 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of liver from Csbm/m/Xpa-/- knockout mice to investigate the effect of nucleotide excision repair pathway inactivation
Cockayne syndrome (CS) is a photosensitive, DNA repair disorder associated with progeria caused by a defect in the transcription-coupled repair (TCR) subpathway of nucleotide excision repair (NER). Here, complete inactivation of NER in Csbm/m/Xpa-/- mutants causes a phenotype that reliably mimics th...
ORGANISM(S): Mus musculus 
2007-01-01 | E-MEXP-835 | biostudies-arrayexpress
UnknownIsoprenylcysteine Carboxylmethyltransferase-Based Therapy for Hutchinson-Gilford Progeria Syndrome.
Not available
S-EPMC8393201 | biostudies-literature
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