mRNA Treatment Rescues Niemann–Pick Disease Type C1 in Patient Fibroblasts

Enhanced Efficacy and Increased Long-Term Toxicity of CNS-Directed, AAV-Based Combination Therapy for Krabbe Disease

(2021) Yedda Li et al.   MOLECULAR THERAPY

mRNA therapy restores euglycemia and prevents liver tumors in murine model of glycogen storage disease

(2021) Jingsong Cao et al.   Nature Communications

AAV Vector Immunogenicity in Humans: A Long Journey to Successful Gene Transfer

(2020) Helena Costa Verdera et al.   MOLECULAR THERAPY

Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry

(2020) Marc C. Patterson et al.   Orphanet Journal of Rare Diseases

Systemic modified messenger RNA for replacement therapy in alpha 1-antitrypsin deficiency

(2020) Ahmad Karadagi et al.   Scientific Reports

Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1

(2020) Beth I. Solomon et al.   JAMA Neurology

mRNA Therapy Improves Metabolic and Behavioral Abnormalities in a Murine Model of Citrin Deficiency

(2019) Jingsong Cao et al.   MOLECULAR THERAPY

A Facile Method for the Removal of dsRNA Contaminant from In Vitro-Transcribed mRNA

(2019) Markus Baiersdörfer et al.   Molecular Therapy-Nucleic Acids

Human 5′ UTR design and variant effect prediction from a massively parallel translation assay

(2019) Paul J. Sample et al.   NATURE BIOTECHNOLOGY

The complexity of a monogenic neurodegenerative disease: More than two decades of therapeutic driven research into Niemann-Pick type C disease

(2019) Natalie Hammond et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Codon bias confers stability to human mRNA s

(2019) Fabian Hia et al.   EMBO REPORTS

Novel mRNA-Based Therapy Reduces Toxic Galactose Metabolites and Overcomes Galactose Sensitivity in a Mouse Model of Classic Galactosemia

(2019) Bijina Balakrishnan et al.   MOLECULAR THERAPY

Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency

(2019) Brian Truong et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Expanded access with intravenous hydroxypropyl-β-cyclodextrin to treat children and young adults with Niemann-Pick disease type C1: a case report analysis

(2019) Caroline Hastings et al.   Orphanet Journal of Rare Diseases

mRNA structure regulates protein expression through changes in functional half-life

(2019) David M. Mauger et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

NPC1 regulates ER contacts with endocytic organelles to mediate cholesterol egress

(2019) D. Höglinger et al.   Nature Communications

AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathology in a mouse model of Niemann-Pick type C1 disease

(2018) Michael P Hughes et al.   HUMAN MOLECULAR GENETICS

Lipid Nanoparticle-Delivered Chemically Modified mRNA Restores Chloride Secretion in Cystic Fibrosis

(2018) Ema Robinson et al.   MOLECULAR THERAPY

Targeted mRNA Therapy for Ornithine Transcarbamylase Deficiency

(2018) Mary G. Prieve et al.   MOLECULAR THERAPY

Optimization of mRNA untranslated regions for improved expression of therapeutic mRNA

(2018) Kirtika H. Asrani et al.   RNA Biology

Uridine Depletion and Chemical Modification Increase Cas9 mRNA Activity and Reduce Immunogenicity without HPLC Purification

(2018) Sriram Vaidyanathan et al.   Molecular Therapy-Nucleic Acids

Systemic messenger RNA as an etiological treatment for acute intermittent porphyria

(2018) Lei Jiang et al.   NATURE MEDICINE

High-throughput in vivo screen of functional mRNA delivery identifies nanoparticles for endothelial cell gene editing

(2018) Cory D. Sago et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

AAV9-NPC1 significantly ameliorates Purkinje cell death and behavioral abnormalities in mouse NPC disease

(2017) Chang Xie et al.   JOURNAL OF LIPID RESEARCH

N1-methyl-pseudouridine in mRNA enhances translation through eIF2α-dependent and independent mechanisms by increasing ribosome density

(2017) Yuri V. Svitkin et al.   NUCLEIC ACIDS RESEARCH

Systemic delivery of factor IX messenger RNA for protein replacement therapy

(2017) Suvasini Ramaswamy et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia

(2017) Ding An et al.   Cell Reports

Effects of Chemically Modified Messenger RNA on Protein Expression

(2016) Bin Li et al.   BIOCONJUGATE CHEMISTRY

A novel translational control mechanism involving RNA structures within coding sequences

(2016) Jennifer Jungfleisch et al.   GENOME RESEARCH

Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1

(2016) Randy J. Chandler et al.   HUMAN MOLECULAR GENETICS

Cap analogs modified with 1,2-dithiodiphosphate moiety protect mRNA from decapping and enhance its translational potential

(2016) Malwina Strenkowska et al.   NUCLEIC ACIDS RESEARCH

Heat shock protein–based therapy as a potential candidate for treating the sphingolipidoses

(2016) Thomas Kirkegaard et al.   Science Translational Medicine

Tunable protein synthesis by transcript isoforms in human cells

(2016) Stephen N Floor et al.   eLife

Differential Scanning Fluorimetry for Monitoring RNA Stability

(2015) Robert Silvers et al.   CHEMBIOCHEM

High incidence of unrecognized visceral/neurological late-onset Niemann-Pick disease, type C1, predicted by analysis of massively parallel sequencing data sets

(2015) Christopher A. Wassif et al.   GENETICS IN MEDICINE

N 1 -methylpseudouridine-incorporated mRNA outperforms pseudouridine-incorporated mRNA by providing enhanced protein expression and reduced immunogenicity in mammalian cell lines and mice

(2015) Oliwia Andries et al.   JOURNAL OF CONTROLLED RELEASE

Sequence-engineered mRNA Without Chemical Nucleoside Modifications Enables an Effective Protein Therapy in Large Animals

(2015) Andreas Thess et al.   MOLECULAR THERAPY

mRNA transcript therapy

(2014) Drew Weissman   Expert Review of Vaccines

mRNA-based therapeutics — developing a new class of drugs

(2014) Ugur Sahin et al.   NATURE REVIEWS DRUG DISCOVERY

Free mRNA in excess upon polysome dissociation is a scaffold for protein multimerization to form stress granules

(2014) Ouissame Bounedjah et al.   NUCLEIC ACIDS RESEARCH

A critical analysis of codon optimization in human therapeutics

(2014) Vincent P. Mauro et al.   TRENDS IN MOLECULAR MEDICINE

Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update

(2012) Marc C. Patterson et al.   MOLECULAR GENETICS AND METABOLISM

RNA therapeutics: beyond RNA interference and antisense oligonucleotides

(2012) Ryszard Kole et al.   NATURE REVIEWS DRUG DISCOVERY

Balanced Codon Usage Optimizes Eukaryotic Translational Efficiency

(2012) Wenfeng Qian et al.   PLoS Genetics

ViennaRNA Package 2.0

(2011) Ronny Lorenz et al.   Algorithms for Molecular Biology

Nucleoside modifications in RNA limit activation of 2'-5'-oligoadenylate synthetase and increase resistance to cleavage by RNase L

(2011) B. R. Anderson et al.   NUCLEIC ACIDS RESEARCH

Protein Replacement Therapy Partially Corrects the Cholesterol-Storage Phenotype in a Mouse Model of Niemann-Pick Type C2 Disease

(2011) Gitte Krogh Nielsen et al.   PLoS One

Niemann-Pick disease type C

(2010) Marie T Vanier   Orphanet Journal of Rare Diseases

Predicting in vivo binding sites of RNA-binding proteins using mRNA secondary structure

(2010) X. Li et al.   RNA

Linear clinical progression, independent of age of onset, in Niemann-Pick disease, type C

(2009) Nicole M. Yanjanin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

Structure of N-Terminal Domain of NPC1 Reveals Distinct Subdomains for Binding and Transfer of Cholesterol

(2009) Hyock Joo Kwon et al.   CELL

Reversal of defective lysosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in the npc1-/- mouse

(2009) B. Liu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Incorporation of Pseudouridine Into mRNA Yields Superior Nonimmunogenic Vector With Increased Translational Capacity and Biological Stability

(2008) Katalin Karikó et al.   MOLECULAR THERAPY

Heterologous Protein Expression Is Enhanced by Harmonizing the Codon Usage Frequencies of the Target Gene with those of the Expression Host

(2008) Evelina Angov et al.   PLoS One

NPC1/NPC2 function as a tag team duo to mobilize cholesterol

(2008) K. Subramanian et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA