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ProteomicsMice retina proteomic in the study of gaptch11 in Leber Congenial Amaurosis
Leber Congenial Amaurosis (LCA) is the most severe early-onset type of blindness that affects children. Several genes have been discovered to be involved in the disease, Gpatch11 being one of them, which needs to be studied deeply. We identified an homozygous variant in the splicing site of exon4 r...
ORGANISM(S): Mus musculus (Mouse) 
2024-09-27 | PXD041849 | Pride
Leber congenial amaurosis Lca Gpatch11 Retina 
ProteomicsMice retina proteomic in the study of gaptch11 in Leber Congenial Amaurosis
Leber Congenial Amaurosis (LCA) is the most severe early-onset type of blindness that affects children. Several genes have been discovered to be involved in the disease, Gpatch11 being one of them, which needs to be studied deeply. We identified an homozygous variant in the splicing site of exon4 r...
ORGANISM(S): Mus musculus (Mouse) 
2024-09-27 | PXD051363 | Pride
Leber congenial amaurosis Immunoprecipitation Gpatch11 Mouse Retina 
UnknownGPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment.
Not available
S-EPMC11582697 | biostudies-literature
GenomicsGPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment: small non-coding RNA-seq data
GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment: small non-coding RNA-seq data
PRJEB80807 | ENA
TranscriptomicsGPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment: small non-coding RNA-seq data
We conducted a study involving 12 individuals with retinal dystrophy, neurological impairment and skeletal abnormalities placing special focus on GPATCH11, a lesser-known G-patch domain-containing protein regulator of RNA metabolism. To elucidate its role, we employed fibroblasts from unaffected ind...
ORGANISM(S): Homo sapiens 
2025-01-01 | E-MTAB-14501 | biostudies-arrayexpress
ProteomicsGPATCH11 ortholog Sap34 regulates pre-mRNA splicing by interacting with early spliceosomal complexes in Schizosaccharomyces pombe
Pre-mRNA splicing is an essential step in gene expression regulation. It is mediated by the spliceosome, a large ribonucleoprotein complex that undergoes dynamic structural and compositional rearrangements during each splicing cycle. Although the mechanisms of splicing and the roles of main spliceos...
ORGANISM(S): Schizosaccharomyces pombe 927 
2026-04-21 | PXD077306 | Pride
G-patch protein  sap34  spac6f6.19  splicing factor  pre-mrna splicing  fission yeast 
UnknownBrain region-specific expression of genes mapped within quantitative trait loci for behavioral responsiveness to acute stress in Fisher 344 and Wistar Kyoto male rats.
Not available
S-EPMC5847310 | biostudies-literature
UnknownGPATCH11 variants cause mis-splicing and early onset retinal dystrophy with neurological impairment
Not available
ORGANISM(S): Mus musculus (mouse) 
S-BSST1157 | biostudies-other
GenomicsSap34 regulation
Sap34 regulation of early steps of pre-mRNA
PRJEB111637 | ENA
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