Vanessa Calcinotto
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View article: HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model Open
Rigid spine syndrome is a rare childhood-onset myopathy characterized by slowly progressive or non-progressive scoliosis, neck and spine contractures, hypotonia and respiratory insufficiency. Biallelic variants in SELENON account for most …
View article: Mitochondrial abnormalities contribute to muscle weakness in a <i>Dnajb6</i> deficient zebrafish model
Mitochondrial abnormalities contribute to muscle weakness in a <i>Dnajb6</i> deficient zebrafish model Open
Mutations in DNAJB6 are a well-established cause of limb girdle muscular dystrophy type D1 (LGMD D1). Patients with LGMD D1 develop progressive muscle weakness with histology showing fibre damage, autophagic vacuoles, and aggregates. Whils…
View article: Biallelic variants in<i>HMGCS1</i>are a novel cause of rare rigid spine syndrome
Biallelic variants in<i>HMGCS1</i>are a novel cause of rare rigid spine syndrome Open
Rigid spine syndrome is a rare childhood-onset myopathy characterised by slowly progressive or non-progressive scoliosis, neck and spine contractures, hypotonia, and respiratory insufficiency. Biallelic variants in SELENON account for most…
View article: CRIMP: A CRISPR/Cas9 Insertional Mutagenesis Protocol and the CRIMP Toolkit
CRIMP: A CRISPR/Cas9 Insertional Mutagenesis Protocol and the CRIMP Toolkit Open
We developed a highly efficient targeted insertional mutagenesis system, CRIMP, and an associated plasmid toolkit, CRIMPkit, that disrupts native gene expression by inducing complete transcriptional termination to produce null mutant allel…
View article: Genetic model of UBA5 deficiency highlights the involvement of both peripheral and central nervous systems and identifies widespread mitochondrial abnormalities
Genetic model of UBA5 deficiency highlights the involvement of both peripheral and central nervous systems and identifies widespread mitochondrial abnormalities Open
Variants in UBA5 have been reported to cause neurological disease with impaired motor function, developmental delay, intellectual disability and brain pathology as recurrent clinical manifestations. UBA5 encodes a ubiquitin-activating-like…