Véronique Bolduc
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View article: Characterization of severe COL6-related dystrophy due to the recurrent variant <i>COL6A1</i> c.930+189C&gt;T
Characterization of severe COL6-related dystrophy due to the recurrent variant <i>COL6A1</i> c.930+189C>T Open
Collagen VI-related dystrophies manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterized by progressive muscle weakness, joi…
View article: Allele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy
Allele-specific CRISPR-Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy Open
The application of allele-specific gene editing tools can expand the therapeutic options for dominant genetic conditions, either via gene correction or via allelic gene inactivation in situations where haploinsufficiency is tolerated. Here…
View article: Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease Open
Troponin I (TnI) regulates thin filament activation and muscle contraction. Two isoforms, TnI-fast ( TNNI2 ) and TnI-slow ( TNNI1 ), are predominantly expressed in fast- and slow-twitch myofibers, respectively. TNNI2 variants are a rare ca…
View article: The recurrent deep intronic pseudoexon-inducing variant<i>COL6A1</i>c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy
The recurrent deep intronic pseudoexon-inducing variant<i>COL6A1</i>c.930+189C>T results in a consistently severe phenotype of COL6-related dystrophy: Towards clinical trial readiness for splice-modulating therapy Open
Collagen VI-related dystrophies (COL6-RDs) manifest with a spectrum of clinical phenotypes, ranging from Ullrich congenital muscular dystrophy (UCMD), presenting with prominent congenital symptoms and characterised by progressive muscle we…
View article: Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy
Optimized allele-specific silencing of the dominant-negative COL6A1 G293R substitution causing collagen VI-related dystrophy Open
Collagen VI-related dystrophies (COL6-RDs) are a group of severe, congenital-onset muscular dystrophies for which there is no effective causative treatment. Dominant-negative mutations are common in COL6A1, COL6A2, and COL…
View article: A humanized knock-in<i>Col6a1</i>mouse recapitulates a deep-intronic splice-activating variant
A humanized knock-in<i>Col6a1</i>mouse recapitulates a deep-intronic splice-activating variant Open
Antisense therapeutics such as splice-modulating antisense oligonucleotides (ASOs) are promising tools to treat diseases caused by splice-altering intronic variants. However, their testing in animal models is hampered by the generally poor…
View article: Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy
Allele-specific CRISPR/Cas9 editing inactivates a single nucleotide variant associated with collagen VI muscular dystrophy Open
The application of allele-specific gene editing tools can expand the therapeutic options for dominant genetic conditions, either via gene correction or via allelic gene inactivation in situations where haploinsufficiency is tolerated. Here…
View article: The UCMD-Causing COL6A1 (<a:math xmlns:a="http://www.w3.org/1998/Math/MathML" id="M1"> <a:mi>c</a:mi> <a:mo>.</a:mo> <a:mn>930</a:mn> <a:mo>+</a:mo> <a:mn>189</a:mn> <a:mi>C</a:mi> <a:mo>></a:mo> <a:mi>T</a:mi> </a:math>) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains
The UCMD-Causing COL6A1 ( c . 930 + 189 C > T ) Intron Mutation Leads to the Secretion and Aggregation of Single Mutated Collagen VI α1 Chains Open
Collagen VI is a unique member of the collagen family. Its assembly is a complex multistep process and the vulnerability of the process is manifested in muscular diseases. Mutations in COL6A1, COL6A2, and COL6A3 lead to the severe Ullrich …
View article: <i>BET1</i> variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
<i>BET1</i> variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy Open
View article: <i>MLIP</i> causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase
<i>MLIP</i> causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase Open
Striated muscle needs to maintain cellular homeostasis in adaptation to increases in physiological and metabolic demands. Failure to do so can result in rhabdomyolysis. The identification of novel genetic conditions associated with rhabdom…
View article: Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores
Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores Open
View article: Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD
Exon-Skipping Oligonucleotides Restore Functional Collagen VI by Correcting a Common COL6A1 Mutation in Ullrich CMD Open
Collagen VI-related congenital muscular dystrophies (COL6-CMDs) are the second most common form of congenital muscular dystrophy. Currently, there is no effective treatment available. COL6-CMDs are caused by recessive or dominant mutations…
View article: Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs
Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs Open
View article: Dominant collagen XII mutations cause a distal myopathy
Dominant collagen XII mutations cause a distal myopathy Open
Objective To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1. Methods Patients with dominant COL12A1 ‐related myopathies were characterized by hi…
View article: Identification of a Novel Deep Intronic Mutation in <i>CAPN3</i> Presenting a Promising Target for Therapeutic Splice Modulation
Identification of a Novel Deep Intronic Mutation in <i>CAPN3</i> Presenting a Promising Target for Therapeutic Splice Modulation Open
Calpainopathy, also known as limb girdle muscular dystrophy (LGMD) type 2A (LGMD2A) or LGMD R1 Calpain3-related, is one of the most common genetically characterized forms of limb-girdle muscular dystrophy with a wide range of phenotypic se…
View article: ASGCT 22nd Annual Meeting Abstracts
ASGCT 22nd Annual Meeting Abstracts Open
View article: A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies
A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies Open
The clinical application of advanced next-generation sequencing technologies is increasingly uncovering novel classes of mutations that may serve as potential targets for precision medicine therapeutics. Here, we show that a deep intronic …
View article: Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy
Recessive mutations in muscle-specific isoforms of FXR1 cause congenital multi-minicore myopathy Open
View article: Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing Open
Transcriptome sequencing improves the diagnostic rate for Mendelian disease in patients for whom genetic analysis has not returned a diagnosis.
View article: Improving genetic diagnosis in Mendelian disease with transcriptome sequencing
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing Open
Exome and whole-genome sequencing are becoming increasingly routine approaches in Mendelian disease diagnosis. Despite their success, the current diagnostic rate for genomic analyses across a variety of rare diseases is approximately 25-50…
View article: 150. Further Development of an Allele-Specific Gene Silencing Strategy to Correct a Dominant-Negative Mutation Causing Collagen VI-Related Muscular Dystrophy
150. Further Development of an Allele-Specific Gene Silencing Strategy to Correct a Dominant-Negative Mutation Causing Collagen VI-Related Muscular Dystrophy Open
Collagen VI-related congenital muscular dystrophies (COL6-RD), caused by mutations in any of the three genes coding for collagen type VI (COL6A1, COL6A2, COL6A3), underlie a spectrum of disorders ranging from severe life-threatening early …
View article: <scp><i>TPM</i></scp><i>3</i> deletions cause a hypercontractile congenital muscle stiffness phenotype
<span><i>TPM</i></span><i>3</i> deletions cause a hypercontractile congenital muscle stiffness phenotype Open
Objective Mutations in TPM3 , encoding Tpm3.12, cause a clinically and histopathologically diverse group of myopathies characterized by muscle weakness. We report two patients with novel de novo Tpm3.12 single glutamic acid deletions at po…