Jacques P. Tremblay
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View article: Correction: Harnessing the promises of cell therapy, gene therapy, and regenerative medicine in Québec, Canada
Correction: Harnessing the promises of cell therapy, gene therapy, and regenerative medicine in Québec, Canada Open
[This corrects the article DOI: 10.3389/fmed.2025.1581058.].
View article: Split Cas12a protospacer engineering enables ultra-specific, PAM-free detection
Split Cas12a protospacer engineering enables ultra-specific, PAM-free detection Open
CRISPR-Cas12a is a programmable, RNA-guided endonuclease that has revolutionized biotechnology, with applications in genome engineering and diagnostics. To induce nuclease activity, Cas12a must first interact with the target dsDNA duplex b…
View article: RAPID: Evaluation of Cas12a Protospacer Nicking and Chimeric Reporters for PAM-free RNA and DNA diagnostics
RAPID: Evaluation of Cas12a Protospacer Nicking and Chimeric Reporters for PAM-free RNA and DNA diagnostics Open
CRISPR-Cas nucleases have revolutionized diagnostics and biotechnology by providing programmable specificity. Here, we extend the understanding of Cas12a biology with a screen that, unexpectedly, finds that Cas12a trans cleavage activity c…
View article: In Vitro Correction of Point Mutations in the DYSF Gene Using Prime Editing
In Vitro Correction of Point Mutations in the DYSF Gene Using Prime Editing Open
Dysferlinopathy is caused by over 500 mutations in the gene encoding dysferlin, including close to 300 point mutations. One option to cure the disease is to use a gene therapy to correct these mutations at the root. Prime editing is a tech…
View article: Harnessing the promises of cell therapy, gene therapy, and regenerative medicine in Québec, Canada
Harnessing the promises of cell therapy, gene therapy, and regenerative medicine in Québec, Canada Open
The last decade has witnessed tremendous progress in the fields of cell and gene therapy and regenerative medicine (CGT/RM). However, these advances came with their own challenges and opportunities, which may vary among jurisdictions depen…
View article: Universal Prime Editing Therapeutic Strategy for RyR1-Related Myopathies: A Protective Mutation Rescues Leaky RyR1 Channel
Universal Prime Editing Therapeutic Strategy for RyR1-Related Myopathies: A Protective Mutation Rescues Leaky RyR1 Channel Open
RyR1-related myopathies (RyR1-RMs) include a wide range of genetic disorders that result from mutations in the RYR1 gene. Pathogenic variants lead to defective intracellular calcium homeostasis and muscle dysfunction. Fixing intracellular …
View article: The Advancement and Applications of Prime Editing
The Advancement and Applications of Prime Editing Open
Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR), an exceptionally potent genome-editing technique developed in 2012, is the ideal tool of the future for treating diseases by permanently correcting deleterious base mutati…
View article: Emerging Perspectives on Prime Editor Delivery to the Brain
Emerging Perspectives on Prime Editor Delivery to the Brain Open
Prime editing shows potential as a precision genome editing technology, as well as the potential to advance the development of next-generation nanomedicine for addressing neurological disorders. However, turning in prime editors (PEs), whi…
View article: Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy
Successful Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy Open
We report the first correction from prime editing a mutation in the RYR1 gene, paving the way to gene therapies for RYR1-related myopathies. The RYR1 gene codes for a calcium channel named Ryanodine receptor 1, which is expressed in skelet…
View article: First Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy
First Correction by Prime Editing of a Mutation in the RYR1 Gene Responsible for a Myopathy Open
We report the first correction by Prime editing of a mutation in the RYR1 gene, paving the way to gene therapies for RYR1-related myopathies. The RYR1 gene codes for a calcium channel named Ryanodine receptor 1, which is expressed in skele…
View article: Portrait of Dysferlinopathy: Diagnosis and Development of Therapy
Portrait of Dysferlinopathy: Diagnosis and Development of Therapy Open
Dysferlinopathy is a disease caused by a dysferlin deficiency due to mutations in the DYSF gene. Dysferlin is a membrane protein in the sarcolemma and is involved in different functions, such as membrane repair and vesicle fusion, T-tubule…
View article: Finding an Appropriate Mouse Model to Study the Impact of a Treatment for Friedreich Ataxia on the Behavioral Phenotype
Finding an Appropriate Mouse Model to Study the Impact of a Treatment for Friedreich Ataxia on the Behavioral Phenotype Open
Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by a GAA repeat in the intron 1 of the frataxin gene (FXN) leading to a lower expression of the frataxin protein. The YG8sR mice are Knock-Out (KO) for their murine…
View article: Limb–Girdle Muscular Dystrophies Classification and Therapies
Limb–Girdle Muscular Dystrophies Classification and Therapies Open
Limb–girdle muscular dystrophies (LGMDs) are caused by mutations in multiple genes. This review article presents 39 genes associated with LGMDs. Some forms are inherited in a dominant fashion, while for others this occurs recessively. The …
View article: Prime editing strategies to mediate exon skipping in DMD gene
Prime editing strategies to mediate exon skipping in DMD gene Open
Duchenne muscular dystrophy is a rare and lethal hereditary disease responsible for progressive muscle wasting due to mutations in the DMD gene. We used the CRISPR-Cas9 Prime editing technology to develop different strategies to correct fr…
View article: Prime Editing for Human Gene Therapy: Where Are We Now?
Prime Editing for Human Gene Therapy: Where Are We Now? Open
Gene therapy holds tremendous potential in the treatment of inherited diseases. Unlike traditional medicines, which only treat the symptoms, gene therapy has the potential to cure the disease by addressing the root of the problem: genetic …
View article: Small-molecule inhibitors of proteasome increase CjCas9 protein stability
Small-molecule inhibitors of proteasome increase CjCas9 protein stability Open
The small size of CjCas9 can make easier its vectorization for in vivo gene therapy. However, compared to the SpCas9, the CjCas9 is, in general, less efficient to generate indels in target genes. The factors that affect its efficacity are …
View article: Delivery of RNAs to Specific Organs by Lipid Nanoparticles for Gene Therapy
Delivery of RNAs to Specific Organs by Lipid Nanoparticles for Gene Therapy Open
Gene therapy holds great promise in the treatment of genetic diseases. It is now possible to make DNA modifications using the CRISPR system. However, a major problem remains: the delivery of these CRISPR-derived technologies to specific or…
View article: Prime editing optimized RTT permits the correction of the c.8713C>T mutation in DMD gene
Prime editing optimized RTT permits the correction of the c.8713C>T mutation in DMD gene Open
Duchenne muscular dystrophy is a severe debilitating genetic disease caused by different mutations in the DMD gene leading to the absence of dystrophin protein under the sarcolemma. We used CRISPR-Cas9 prime editing technology for correcti…
View article: Improvements of nuclease and nickase gene modification techniques for the treatment of genetic diseases
Improvements of nuclease and nickase gene modification techniques for the treatment of genetic diseases Open
Advancements in genome editing make possible to exploit the functions of enzymes for efficient DNA modifications with tremendous potential to treat human genetic diseases. Several nuclease genome editing strategies including Meganucleases …
View article: Prime Editing Permits the Introduction of Specific Mutations in the Gene Responsible for Duchenne Muscular Dystrophy
Prime Editing Permits the Introduction of Specific Mutations in the Gene Responsible for Duchenne Muscular Dystrophy Open
The Prime editing technique derived from the CRISPR/Cas9 discovery permits the modification of selected nucleotides in a specific gene. We used it to insert specific point mutations in exons 9, 20, 35, 43, 55 and 61 of the Duchenne Muscula…
View article: Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy
Therapeutic Strategies for Dystrophin Replacement in Duchenne Muscular Dystrophy Open
Duchenne muscular dystrophy (DMD) is an X-linked hereditary disease characterized by progressive muscle wasting due to modifications in the DMD gene (exon deletions, nonsense mutations, intra-exonic insertions or deletions, exon duplicatio…
View article: Efficient in vitro and in vivo self-repression of SpCas9 gene using a molecular Hara-Kiri method.
Efficient in vitro and in vivo self-repression of SpCas9 gene using a molecular Hara-Kiri method. Open
The CRISPR/Cas9 system is currently a major revolution in the field of biology. Because of its simplicity compared to other endonucleases, this system is being experimented in diverse fields. However, a major disadvantage is the toxicity l…
View article: Insertion of the Icelandic Mutation (A673T) by Prime Editing: A Potential Preventive Treatment for Familial and Sporadic Alzheimer's Disease
Insertion of the Icelandic Mutation (A673T) by Prime Editing: A Potential Preventive Treatment for Familial and Sporadic Alzheimer's Disease Open
Alzheimer's disease (AD) is the result of abnormal processing of the amyloid precursor protein (APP) by β-secretase and γ-secretase, which leads to the formation of toxic β-amyloid peptides. The toxic β-amyloid peptides induce neuron death…
View article: Insertion of the Icelandic mutation (A673T) in the <i>APP</i> gene using the CRISPR/Cas9 base editing and Prime editing technologies, a preventive treatment for Alzheimer?
Insertion of the Icelandic mutation (A673T) in the <i>APP</i> gene using the CRISPR/Cas9 base editing and Prime editing technologies, a preventive treatment for Alzheimer? Open
Background There is currently no treatment for Alzheimer disease (AD). However, the Icelandic mutation in the APP gene (A673T) has been shown to confer a protection against the onset and development of AD (Jonsson et al. Nature 2012). This…