Sort   by:  
 Page size 
MetabolomicsTargeted lipidomics in Alexander's disease cellular models
High-throughput targeted lipidomic data obtained from biological replicates (n=12) of four cellular models of Alexander disease using U-87 MG non-transfected and GFP-GFAP expressing cells (WT, R239C, R239G, R79C, and E373K variants).
2026-09-28 | MTBLS15503 | MetaboLights
TranscriptomicsMuscle Hypertrophy Induced by Myostatin Inhibition Accelerates Degeneration in Dysferlinopathy
Because myostatin normally limits skeletal muscle growth, there is an extensive effort to develop myostatin inhibitors for clinical use. One potential concern is that in patients with muscle degenerative diseases, inducing hypertrophy may increase stress on dystrophic fibers. Here, we show that bl...
ORGANISM(S): Mus musculus 
2015-09-04 | E-GEOD-62945 | biostudies-arrayexpress
MetabolomicsTargeted metabolomic profiling of retinas from WT and Rho-Cre/Mfn1flx/flx/Mfn2flx/flx mice
Mitochondria are dynamic organelles that undergo continuous morphological changes, yet exhibit unique, cell-type-specific structures. In rod photoreceptor cells of the retina, these structures include elongated mitochondria in the inner segments and a distinct, large, circular mitochondrion in each ...
2026-03-12 | MTBLS12512 | MetaboLights
TranscriptomicsTranscriptomic and proteomic retinal pigment epithelium signatures of age-related macular degeneration
To identify disease-specific transcriptional programs in retinal pigment epithelium (RPE) cells, fibroblasts from 43 patients with geographic atrophy (GA) were reprogrammed into induced pluripotent stem cells (iPSCs) before being differentiated into RPE and compared to those from 36 healthy individu...
ORGANISM(S): Homo sapiens 
2022-06-20 | E-MTAB-11642 | biostudies-arrayexpress
TranscriptomicsReversal of persistent wound-induced retinal pigmented epithelial-to-mesenchymal transition by the TGFb pathway inhibitor, A-83-01.
Age-related macular degeneration (AMD) is a leading cause of blindness. Most vision loss occurs following the transition from a disease of deposit formation and inflammation to a disease of neovascular fibrosis and/or cell death. Here, we investigate how repeated wound stimulus leads to seminal chan...
ORGANISM(S): Homo sapiens 
2015-07-06 | E-GEOD-67898 | biostudies-arrayexpress
TranscriptomicsTargeted degradation of sense and antisense C9orf72 RNA foci as therapy for amyotrophic lateral sclerosis and frontotemporal dementia (Multiplex Analysis of PolyA-linked Sequences)
Purpose: The purpose of this experiment is to identify a C9-ALS/FTD specific genomic profile in fibroblast lines that is distinct from sporadic ALS without C9orf72 expansion and non-neurologic control cells. The study will then evaluate the effect on this identified profile of ASO treatment targetin...
ORGANISM(S): Homo sapiens 
2013-11-12 | E-GEOD-51684 | biostudies-arrayexpress
ProteomicsFactor H and related proteins in AMD
Age-related macular degeneration (AMD) is a common form of adult blindness. Risk of developing AMD is strongly linked to genetics, in particular at the Regulators of Complement Activation (RCA) locus on Chr1, which contains 6 genes, Complement Factor H (CFH) and Complement Factor H-related 1-5 (CFHR...
ORGANISM(S): Homo Sapiens 
2022-01-18 | PXD023466 | panorama
TranscriptomicsBrain gene expression profiles of Cln1 and Cln5 deficient mice unravels common molecular pathways underlying neuronal degeneration in NCL diseases
The neuronal ceroid lipofuscinoses (NCL) are a group of childhood inherited neurodegenerative disorders characterized by blindness, early dementia and pronounced cortical atrophy. The similar pathological and clinical profiles of different forms of NCL suggest that common disease mechanisms may be i...
ORGANISM(S): Mus musculus 
2008-05-21 | E-MEXP-1333 | biostudies-arrayexpress
TranscriptomicsA retinoblastoma allele that is mutated at its common E2F interaction site inhibits cell proliferation in gene targeted mice
The retinoblastoma protein (pRB) is best known for regulating cell proliferation through E2F transcription factors. In this report we investigate the properties of a targeted mutation that disrupts pRB interactions with the transactivation domain of E2Fs. Mice that carry this mutation endogenously (...
ORGANISM(S): Mus musculus 
2014-04-14 | E-GEOD-54924 | biostudies-arrayexpress
TranscriptomicsTo study glycobiology-related abnormalities in retinal degeneration, an area that is relatively unexplored
Retinal degeneration is the leading cause of irreversible blindness. Retinitis pigmentosa (RP) is a genetically heterogenous group of diseases. In the United States, approximately one in 4000 individuals is affected. RP begins with the loss of night vision due to the loss of rod photoreceptor cel...
ORGANISM(S): Mus musculus 
2011-09-07 | E-GEOD-31990 | biostudies-arrayexpress
Sort   by:  
 Page size