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GenomicsGeneration of corrected hiPSC clones from a Cornelia de Lange Syndrome (CdLS) patient through CRISPR-Cas based technology
Cornelia de Lange syndrome (CdLS) is an autosomal dominant disease mainly caused by mutations in the Nipped-B-like protein (NIPBL) gene resulting in the alteration of the cohesin pathway. Here, we generated human induced pluripotent stem cells (hiPSCs) from a CdLS patient carrying a mutation in the ...
ORGANISM(S): Homo sapiens 
2023-03-17 | E-MTAB-11604 | biostudies-arrayexpress
ProteomicsProteomic analysis of the role of the quality control protease LONP1 in mitochondrial protein aggregation
The mitochondrial matrix protease LONP1 is an essential part of the organellar protein quality control system. LONP1 has been shown to be involved in respiration control and apoptosis. Furthermore, a reduction in LONP1 level correlates with ageing processes. Up to now, the effects of a LONP1 defect ...
ORGANISM(S): Homo sapiens (Human) 
2022-01-31 | PXD026941 | Pride
Human Protein aggregation Heat stress Lonp1 atp-dependent protease Mitochondria Genetic alteration via crispr/cas Protein degradation 
UnknownA CRISPR-Assisted Nonhomologous End-Joining Strategy for Efficient Genome Editing in Mycobacterium tuberculosis.
Not available
S-EPMC6989103 | biostudies-literature
UnknownA cytosine base editor toolkit with varying activity windows and target scopes for versatile gene manipulation in plants.
Not available
S-EPMC8989527 | biostudies-literature
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