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Article
Directed evolution of adenine base editors with increased activity and therapeutic application
The foundational adenine base editors (for example, ABE7.10) enable programmable A•T to G•C point mutations but editing efficiencies can be low at challenging loci in primary human cells. Here we further evolv...
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Article
Open AccessCytosine base editors with minimized unguided DNA and RNA off-target events and high on-target activity
Cytosine base editors (CBEs) enable efficient, programmable reversion of T•A to C•G point mutations in the human genome. Recently, cytosine base editors with rAPOBEC1 were reported to induce unguided cytosine ...
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Article
Design and applications of gene therapy vectors for mucopolysaccharidosis in Colombia
The authors briefly describe their work in the construction of viral derived vectors for the use in gene therapy of muchopolysaccharide storage diseases (MPS), especially in Morquio A syndrome. The motivations...
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Article
Tailoring the AAV2 capsid vector for bone-targeting
Targeting specific tissues remains a major challenge to the promise of gene therapy. For example, several strategies have failed to target adeno-associated virus 2 (AAV2) vectors, to bone. We have evaluated in...
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Article
Open AccessNeural stem cells for disease modeling and evaluation of therapeutics for Tay-Sachs disease
Tay-Sachs disease (TSD) is a rare neurodegenerative disorder caused by autosomal recessive mutations in the HEXA gene on chromosome 15 that encodes β-hexosaminidase. Deficiency in HEXA results in accumulation of ...
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Article
Open AccessPublisher Correction: Pairwise library screen systematically interrogates Staphylococcus aureus Cas9 specificity in human cells
The original HTML version of this Article incorrectly listed an affiliation of Josh Tycko as ‘Department of Genetics, Stanford University School of Medicine, Stanford, CA 94305, USA’, instead of the correct ‘P...
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Article
Open AccessResearch, diagnosis and education in inborn errors of metabolism in Colombia: 20 years’ experience from a reference center
The use of specialized centers has been the main alternative for an appropriate diagnosis, management and follow up of patients affected by inborn errors of metabolism (IEM). These centers facilitate the train...
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Article
Open AccessPairwise library screen systematically interrogates Staphylococcus aureus Cas9 specificity in human cells
Therapeutic genome editing with Staphylococcus aureus Cas9 (SaCas9) requires a rigorous understanding of its potential off-target activity in the human genome. Here we report a high-throughput screening approach ...
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Article
Response to “Unexpected mutations after CRISPR–Cas9 editing in vivo”
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Article
Open AccessUDiTaS™, a genome editing detection method for indels and genome rearrangements
Understanding the diversity of repair outcomes after introducing a genomic cut is essential for realizing the therapeutic potential of genomic editing technologies. Targeted PCR amplification combined with Nex...
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Article
Open AccessCharacterization of the interplay between DNA repair and CRISPR/Cas9-induced DNA lesions at an endogenous locus
The CRISPR–Cas9 system provides a versatile toolkit for genome engineering that can introduce various DNA lesions at specific genomic locations. However, a better understanding of the nature of these lesions a...
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Article
Open AccessCellMapper: rapid and accurate inference of gene expression in difficult-to-isolate cell types
We present a sensitive approach to predict genes expressed selectively in specific cell types, by searching publicly available expression data for genes with a similar expression profile to known cell-specific...
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Article
Open AccessRecombinant human N-acetylgalactosamine-6-sulfate sulfatase (GALNS) produced in the methylotrophic yeast Pichia pastoris
Mucopolysaccharidosis IV A (MPS IV A, Morquio A disease) is a lysosomal storage disease (LSD) produced by mutations on N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Recently an enzyme replacement therapy ...
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Article
Open AccessContext influences on TALE–DNA binding revealed by quantitative profiling
Transcription activator-like effector (TALE) proteins recognize DNA using a seemingly simple DNA-binding code, which makes them attractive for use in genome engineering technologies that require precise target...
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Article
Highly parallel assays of tissue-specific enhancers in whole Drosophila embryos
Identifying tissue-specific expression of a selection marker and putative enhancer-driven expression of GFP with flow cytometry enriches for active enhancers.
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Article
Low-Scale expression and purification of an active putative iduronate 2-sulfate sulfatase-Like enzyme from Escherichia coli K12
The sulfatase family involves a group of enzymes with a large degree of similarity. Until now, sixteen human sulfatases have been identified, most of them found in lysosomes. Human deficiency of sulfatases gen...
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Article
Enzyme replacement therapy for Morquio A: an active recombinant N-acetylgalactosamine-6-sulfate sulfatase produced in Escherichia coli BL21
Mucopolysaccharidosis IVA (MPS IVA) is an autosomal recessive disorder caused by N-acetylgalactosamine-6-sulfate sulfatase (GALNS) deficiency. Currently no effective therapies exist for MPS IVA. In this work, pro...
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Ethical Aspects on Rare Diseases
In this chapter we discuss several of the most relevant subjects related to ethics on Rare Diseases. Some general aspects are discussed such as the socio-psychological problems that confront the patients and t...
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Article
Effect of elongation factor 1α promoter and SUMF1 over in vitro expression of N-acetylgalactosamine-6-sulfate sulfatase
Morquio A is an autosomal recessive disease caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS), leading to the lysosomal accumulation of keratan-sulfate and chondroitin-6-sulfate. We ev...
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Article
Identification of a common mutation in mucopolysaccharidosis IVA: correlation among genotype, phenotype, and keratan sulfate
Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disorder caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Mutation screening of the GALNS was performed by genomic PCR and ...
