Lisa Rice
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View article: Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria
Characterizing the mechanism of action for mRNA therapeutics for the treatment of propionic acidemia, methylmalonic acidemia, and phenylketonuria Open
Messenger RNA (mRNA) therapeutics delivered via lipid nanoparticles hold the potential to treat metabolic diseases caused by protein deficiency, including propionic acidemia (PA), methylmalonic acidemia (MMA), and phenylketonuria (PKU). He…
View article: Ex vivo precision-cut liver slices model disease phenotype and monitor therapeutic response for liver monogenic diseases
Ex vivo precision-cut liver slices model disease phenotype and monitor therapeutic response for liver monogenic diseases Open
Background In academic research and the pharmaceutical industry, in vitro cell lines and in vivo animal models are considered as gold standards in modelling diseases and assessing therapeutic efficacy. However, both models have intrinsic l…
View article: mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria Open
The urea cycle enzyme argininosuccinate lyase (ASL) enables the clearance of neurotoxic ammonia and the biosynthesis of arginine. Patients with ASL deficiency present with argininosuccinic aciduria, an inherited metabolic disease with hype…
View article: Ex vivo precision-cut liver slices model disease phenotype and monitor therapeutic response for liver monogenic diseases
Ex vivo precision-cut liver slices model disease phenotype and monitor therapeutic response for liver monogenic diseases Open
Background In academic research and the pharmaceutical industry, in vitro cell lines and in vivo animal models are considered as gold standards in modelling diseases and assessing therapeutic efficacy. However, both models have intrinsic …
View article: The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria Open
Argininosuccinate lyase (ASL) is integral to the urea cycle detoxifying neurotoxic ammonia and the nitric oxide (NO) biosynthesis cycle. Inherited ASL deficiency causes argininosuccinic aciduria (ASA), a rare disease with hyperammonemia an…
View article: Macrophage inhibitor clodronate enhances liver transduction of lentiviral but not AAV vectors or mRNA lipid nanoparticles<i>in vivo</i>
Macrophage inhibitor clodronate enhances liver transduction of lentiviral but not AAV vectors or mRNA lipid nanoparticles<i>in vivo</i> Open
Recently approved adeno-associated viral (AAV) vectors for liver monogenic diseases hemophilia A and B are exemplifying the success of liver-directed viral gene therapy. In parallel, additional strategies are rapidly emerging to overcome s…
View article: Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model
Messenger RNA rescues medium-chain acyl-CoA dehydrogenase deficiency in fibroblasts from patients and a murine model Open
Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is the most common inherited disorder of mitochondrial fatty acid β-oxidation (FAO) in humans. Patients exhibit clinical episodes often associated with fasting. Symptoms include hypoket…
View article: <i>Ex vivo</i>primary liver sections recapitulate disease phenotype and therapeutic rescue for liver monogenic diseases
<i>Ex vivo</i>primary liver sections recapitulate disease phenotype and therapeutic rescue for liver monogenic diseases Open
In academic research and the pharmaceutical industry, in vitro single cell line cultures and in vivo animal models are considered as gold standards in modelling diseases and assessing therapeutic efficacy. However, both models have limitat…
View article: Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model
Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model Open
View article: Biomarkers of haemodynamic severity of systemic sclerosis-associated pulmonary arterial hypertension by serum proteome analysis
Biomarkers of haemodynamic severity of systemic sclerosis-associated pulmonary arterial hypertension by serum proteome analysis Open
View article: mRNA therapy restores ureagenesis and corrects glutathione metabolism in argininosuccinic aciduria
mRNA therapy restores ureagenesis and corrects glutathione metabolism in argininosuccinic aciduria Open
Argininosuccinate lyase (ASL) is a key enzyme integral to the hepatic urea cycle which is required for ammonia detoxification, and the citrulline-nitric oxide (NO) cycle for NO production. ASL deficient patients present with argininosuccin…
View article: Correction: Serum biomarker for diagnostic evaluation of pulmonary arterial hypertension in systemic sclerosis
Correction: Serum biomarker for diagnostic evaluation of pulmonary arterial hypertension in systemic sclerosis Open
View article: mRNA therapy restores euglycemia and prevents liver tumors in murine model of glycogen storage disease
mRNA therapy restores euglycemia and prevents liver tumors in murine model of glycogen storage disease Open
View article: Systemic modified messenger RNA for replacement therapy in alpha 1-antitrypsin deficiency
Systemic modified messenger RNA for replacement therapy in alpha 1-antitrypsin deficiency Open
View article: Single Cell RNA Sequencing Identifies HSPG2 and APLNR as Markers of Endothelial Cell Injury in Systemic Sclerosis Skin
Single Cell RNA Sequencing Identifies HSPG2 and APLNR as Markers of Endothelial Cell Injury in Systemic Sclerosis Skin Open
Objective: The mechanisms that lead to endothelial cell (EC) injury and propagate the vasculopathy in Systemic Sclerosis (SSc) are not well understood. Using single cell RNA sequencing (scRNA-seq), our goal was to identify EC marker…
View article: Serum biomarker for diagnostic evaluation of pulmonary arterial hypertension in systemic sclerosis
Serum biomarker for diagnostic evaluation of pulmonary arterial hypertension in systemic sclerosis Open
View article: Skin Gene Expression Is Prognostic for the Trajectory of Skin Disease in Patients With Diffuse Cutaneous Systemic Sclerosis
Skin Gene Expression Is Prognostic for the Trajectory of Skin Disease in Patients With Diffuse Cutaneous Systemic Sclerosis Open
Objective At present, there are no clinical or laboratory measures that accurately forecast the progression of skin fibrosis and organ involvement in patients with systemic sclerosis ( SS c). The goal of this study was to identify skin bio…
View article: Ocular Manifestations of HIV at Boston Medical Center: A 15 Year Retrospective Study
Ocular Manifestations of HIV at Boston Medical Center: A 15 Year Retrospective Study Open
View article: Altered Dermal Fibroblasts in Systemic Sclerosis Display Podoplanin and CD90
Altered Dermal Fibroblasts in Systemic Sclerosis Display Podoplanin and CD90 Open
View article: Local skin gene expression reflects both local and systemic skin disease in patients with systemic sclerosis
Local skin gene expression reflects both local and systemic skin disease in patients with systemic sclerosis Open
View article: Promotion of Inflammatory Arthritis by Interferon Regulatory Factor 5 in a Mouse Model
Promotion of Inflammatory Arthritis by Interferon Regulatory Factor 5 in a Mouse Model Open
Objective Polymorphisms in the transcription factor interferon regulatory factor 5 (IRF5) are associated with an increased risk of developing rheumatoid arthritis (RA). This study was undertaken to determine the role of IRF5 in a mouse mod…
View article: A Longitudinal Biomarker for the Extent of Skin Disease in Patients With Diffuse Cutaneous Systemic Sclerosis
A Longitudinal Biomarker for the Extent of Skin Disease in Patients With Diffuse Cutaneous Systemic Sclerosis Open
Objective To define a pharmacodynamic biomarker based on gene expression in skin that would provide a biologic measure of the extent of disease in patients with diffuse cutaneous systemic sclerosis (dcSSc) and could be used to monitor skin…
View article: Fresolimumab treatment decreases biomarkers and improves clinical symptoms in systemic sclerosis patients
Fresolimumab treatment decreases biomarkers and improves clinical symptoms in systemic sclerosis patients Open
Clinicaltrials.gov NCT01284322.