Targeted exon skipping of NF1 exon 17 as a therapeutic for neurofibromatosis type I

Analysis of patient‐specific NF1 variants leads to functional insights for Ras signaling that can impact personalized medicine

(2021) Ashlee Long et al.   HUMAN MUTATION

The 10th Oligonucleotide Therapy Approved: Golodirsen for Duchenne Muscular Dystrophy

(2020) Annemieke Aartsma-Rus et al.   Nucleic Acid Therapeutics

Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy

(2020) Haiyan Zhou et al.   Journal of Cachexia Sarcopenia and Muscle

Neurofibromin Is an Estrogen Receptor-α Transcriptional Co-repressor in Breast Cancer

(2020) Ze-Yi Zheng et al.   CANCER CELL

Optimization of antisense-mediated exon skipping for Duchenne muscular dystrophy

(2020) Kasia Dzierlega et al.   GENE THERAPY

Long-Term Efficacy of AAV9-U7snRNA-Mediated Exon 51 Skipping in mdx52 Mice

(2020) Philippine Aupy et al.   Molecular Therapy-Methods & Clinical Development

Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

(2019) Magdalena Koczkowska et al.   HUMAN MUTATION

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844–848

(2018) Magdalena Koczkowska et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Neurofibromin (NF1 ) genetic variant structure-function analyses using a full-length mouse cDNA

(2018) Deeann Wallis et al.   HUMAN MUTATION

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

(2018) Eugenio Mercuri et al.   NEW ENGLAND JOURNAL OF MEDICINE

Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

(2018) Magdalena Koczkowska et al.   GENETICS IN MEDICINE

Prevalence of neurofibromatosis type 1 in the Finnish population

(2017) Roope A Kallionpää et al.   GENETICS IN MEDICINE

Quantitative Antisense Screening and Optimization for Exon 51 Skipping in Duchenne Muscular Dystrophy

(2017) Yusuke Echigoya et al.   MOLECULAR THERAPY

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

FDA Approves Eteplirsen for Duchenne Muscular Dystrophy: The Next Chapter in the Eteplirsen Saga

(2017) Annemieke Aartsma-Rus et al.   Nucleic Acid Therapeutics

The contribution of intrinsically disordered regions to protein function, cellular complexity, and human disease

(2016) M. Madan Babu   BIOCHEMICAL SOCIETY TRANSACTIONS

NF1germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1

(2016) Joseph A. Toonen et al.   HUMAN MOLECULAR GENETICS

Immortalization of human normal and NF1 neurofibroma Schwann cells

(2016) Hua Li et al.   LABORATORY INVESTIGATION

Activity of Selumetinib in Neurofibromatosis Type 1–Related Plexiform Neurofibromas

(2016) Eva Dombi et al.   NEW ENGLAND JOURNAL OF MEDICINE

ConSurf 2016: an improved methodology to estimate and visualize evolutionary conservation in macromolecules

(2016) Haim Ashkenazy et al.   NUCLEIC ACIDS RESEARCH

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

(2015) Kitiwan Rojnueangnit et al.   HUMAN MUTATION

Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1

(2015) Yasuko Hirata et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Use of the Open Field Maze to Measure Locomotor and Anxiety-like Behavior in Mice

(2015) Michael L. Seibenhener et al.   Jove-Journal of Visualized Experiments

PredictProtein—an open resource for online prediction of protein structural and functional features

(2014) Guy Yachdav et al.   NUCLEIC ACIDS RESEARCH

Exon-Skipping Antisense Oligonucleotides to Correct Missplicing in Neurogenetic Diseases

(2014) Kavitha Siva et al.   Nucleic Acid Therapeutics

hCKSAAP_UbSite: Improved prediction of human ubiquitination sites by exploiting amino acid pattern and properties

(2013) Zhen Chen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Incorporating key position and amino acid residue features to identify general and species-specific Ubiquitin conjugation sites

(2013) Xiang Chen et al.   BIOINFORMATICS

New developments in the use of gene therapy to treat Duchenne muscular dystrophy

(2013) Susan Jarmin et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Engineering Multiple U7snRNA Constructs to Induce Single and Multiexon-skipping for Duchenne Muscular Dystrophy

(2012) Aurélie Goyenvalle et al.   MOLECULAR THERAPY

A mild neurofibromatosis type 1 phenotype produced by the combination of the benign nature of a leaky NF1-splice mutation and the presence of a complex mosaicism

(2011) Juana Fernández-Rodríguez et al.   HUMAN MUTATION

Antisense-induced Myostatin Exon Skipping Leads to Muscle Hypertrophy in Mice Following Octa guanidine Morpholino Oligomer Treatment

(2010) Jagjeet K Kang et al.   MOLECULAR THERAPY

Chronic Systemic Therapy With Low-dose Morpholino Oligomers Ameliorates the Pathology and Normalizes Locomotor Behavior in mdx Mice

(2010) Alberto Malerba et al.   MOLECULAR THERAPY

Antisense therapeutics for neurofibromatosis type 1 caused by deep intronic mutations

(2009) Eva Pros et al.   HUMAN MUTATION

Design of Phosphorodiamidate Morpholino Oligomers (PMOs) for the Induction of Exon Skipping of the Human DMD Gene

(2009) Linda J Popplewell et al.   MOLECULAR THERAPY

Cell-Specific Information Processing in Segregating Populations of Eph Receptor Ephrin-Expressing Cells

(2009) C. Jorgensen et al.   SCIENCE