In utero adenine base editing corrects multi-organ pathology in a lethal lysosomal storage disease

[1]  David R. Liu,et al.  Restoration of visual function in adult mice with an inherited retinal disease via adenine base editing , 2020, Nature Biomedical Engineering.

[2]  J. Dowling,et al.  Re: “Moving Forward After Two Deaths in a Gene Therapy Trial of Myotubular Myopathy” by Wilson and Flotte , 2020, Human Gene Therapy.

[3]  K. Gunasekaran,et al.  High-Throughput Liquid Chromatography–Tandem Mass Spectrometry Quantification of Glycosaminoglycans as Biomarkers of Mucopolysaccharidosis II , 2020, International journal of molecular sciences.

[4]  T. Flotte,et al.  Moving forward after two deaths in a gene therapy trial of myotubular myopathy. , 2020, Human gene therapy.

[5]  Amy G. Feldman,et al.  Subacute Liver Failure Following Gene Replacement Therapy for Spinal Muscular Atrophy Type I. , 2020, The Journal of pediatrics.

[6]  Ciaran M. Lee,et al.  AAV-CRISPR Gene Editing Is Negated by Pre-existing Immunity to Cas9 , 2020, Molecular therapy : the journal of the American Society of Gene Therapy.

[7]  M. G. O’Sullivan,et al.  A Highly Efficacious PS Gene Editing System Corrects Metabolic and Neurological Complications of Mucopolysaccharidosis Type I. , 2020, Molecular therapy : the journal of the American Society of Gene Therapy.

[8]  David R. Liu,et al.  Phage-assisted evolution of an adenine base editor with improved Cas domain compatibility and activity , 2020, Nature Biotechnology.

[9]  A. Pshezhetsky,et al.  Brain Pathology in Mucopolysaccharidoses (MPS) Patients with Neurological Forms , 2020, Journal of clinical medicine.

[10]  David R. Liu,et al.  Cytosine and adenine base editing of the brain, liver, retina, heart and skeletal muscle of mice via adeno-associated viruses , 2019, Nature Biomedical Engineering.

[11]  R. Giugliani,et al.  Neonatal nonviral gene editing with the CRISPR/Cas9 system improves some cardiovascular, respiratory, and bone disease features of the mucopolysaccharidosis I phenotype in mice , 2019, Gene Therapy.

[12]  T. T. Zampieri,et al.  Acute effects of somatomammotropin hormones on neuronal components of the hypothalamic-pituitary-gonadal axis , 2019, Brain Research.

[13]  D. Munn,et al.  ER stress-induced mediator C/EBP homologous protein thwarts effector T cell activity in tumors through T-bet repression , 2019, Nature Communications.

[14]  L. M. Valor,et al.  CBP and SRF co-regulate dendritic growth and synaptic maturation , 2019, Cell Death & Differentiation.

[15]  Y. Kato,et al.  Data on localization of coxsackievirus and adenovirus receptor (CAR) in the embryonic rat brain , 2019, Data in brief.

[16]  Matthew C. Canver,et al.  CRISPResso2 provides accurate and rapid genome editing sequence analysis , 2019, Nature Biotechnology.

[17]  E. Morrisey,et al.  Early lineage specification defines alveolar epithelial ontogeny in the murine lung , 2019, Proceedings of the National Academy of Sciences.

[18]  Yasuyuki Suzuki,et al.  Biomarkers in patients with mucopolysaccharidosis type II and IV , 2019, Molecular genetics and metabolism reports.

[19]  Yanming Feng,et al.  Non-invasive prenatal sequencing for multiple Mendelian monogenic disorders using circulating cell-free fetal DNA , 2019, Nature Medicine.

[20]  S. S. St Martin,et al.  ZFN-Mediated In Vivo Genome Editing Corrects Murine Hurler Syndrome , 2018, Molecular therapy : the journal of the American Society of Gene Therapy.

[21]  Manuel Desco,et al.  MouBeAT: A New and Open Toolbox for Guided Analysis of Behavioral Tests in Mice , 2018, Front. Behav. Neurosci..

[22]  A. Bradley,et al.  Erratum: Repair of double-strand breaks induced by CRISPR–Cas9 leads to large deletions and complex rearrangements , 2018, Nature Biotechnology.

[23]  Channabasavaiah B. Gurumurthy,et al.  Human genome-edited hematopoietic stem cells phenotypically correct Mucopolysaccharidosis type I , 2018, Nature Communications.

[24]  S. Khan,et al.  Glycosaminoglycans analysis in blood and urine of patients with mucopolysaccharidosis. , 2018, Molecular genetics and metabolism.

[25]  Li Li,et al.  In utero CRISPR-mediated therapeutic editing of metabolic genes , 2018, Nature Medicine.

[26]  Kevin Mills,et al.  Fetal gene therapy for neurodegenerative disease of infants , 2018, Nature Medicine.

[27]  David R. Liu,et al.  Improving cytidine and adenine base editors by expression optimization and ancestral reconstruction , 2018, Nature Biotechnology.

[28]  Eugene Chung,et al.  Adenine base editing in mouse embryos and an adult mouse model of Duchenne muscular dystrophy , 2018, Nature Biotechnology.

[29]  Sruthi Mantri,et al.  Identification of preexisting adaptive immunity to Cas9 proteins in humans , 2018, Nature Medicine.

[30]  M. Fuller,et al.  Glycosaminoglycan fragments as a measure of disease burden in the mucopolysaccharidosis type I mouse. , 2017, Molecular genetics and metabolism.

[31]  M. Delgado-Rodríguez,et al.  Systematic review and meta-analysis. , 2017, Medicina intensiva.

[32]  Rick L. Stevens,et al.  A communal catalogue reveals Earth’s multiscale microbial diversity , 2017, Nature.

[33]  R. Smits,et al.  Dynamics of Proliferative and Quiescent Stem Cells in Liver Homeostasis and Injury. , 2017, Gastroenterology.

[34]  M. Valsecchi,et al.  Neonatal umbilical cord blood transplantation halts skeletal disease progression in the murine model of MPS-I , 2017, Scientific Reports.

[35]  Yoko Ito,et al.  Hypoxia-Inducible Factor 1α Signaling Promotes Repair of the Alveolar Epithelium after Acute Lung Injury. , 2017, The American journal of pathology.

[36]  D. Oepkes,et al.  Complications of intrauterine intravascular blood transfusion: lessons learned after 1678 procedures , 2017, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[37]  E. Kort,et al.  Abstract 478: Cell-type Specific Surface Markers Effectively Isolate Cardiac Cell Sub-populations , 2017, Circulation Research.

[38]  M. Poe,et al.  Early disease progression of Hurler syndrome , 2017, Orphanet Journal of Rare Diseases.

[39]  A. Flake,et al.  Induction of Immune Tolerance to Foreign Protein via Adeno-Associated Viral Vector Gene Transfer in Mid-Gestation Fetal Sheep , 2017, PloS one.

[40]  Hua Wu,et al.  Levels of Cocaine- and Amphetamine-Regulated Transcript in Vagal Afferents in the Mouse Are Unaltered in Response to Metabolic Challenges , 2016, eNeuro.

[41]  R. Akella,et al.  Amniotic fluid glycosaminoglycans in the prenatal diagnosis of mucopolysaccharidoses - A useful biomarker. , 2016, Clinica chimica acta; international journal of clinical chemistry.

[42]  J. Joly,et al.  Evaluation of off-target and on-target scoring algorithms and integration into the guide RNA selection tool CRISPOR , 2016, Genome Biology.

[43]  A. Flake,et al.  The Intravenous Route of Injection Optimizes Engraftment and Survival in the Murine Model of In Utero Hematopoietic Cell Transplantation. , 2016, Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation.

[44]  Daniel G. Anderson,et al.  Therapeutic genome editing by combined viral and non-viral delivery of CRISPR system components in vivo , 2016, Nature Biotechnology.

[45]  K. Rudser,et al.  Mucopolysaccharidosis (MPS) Physical Symptom Score: Development, Reliability, and Validity. , 2015, JIMD reports.

[46]  Atsushi Miyawaki,et al.  ScaleS: an optical clearing palette for biological imaging , 2015, Nature Neuroscience.

[47]  A. Flake,et al.  Correction of murine hemoglobinopathies by prenatal tolerance induction and postnatal nonmyeloablative allogeneic BM transplants. , 2015, Blood.

[48]  Wolfgang Wurst,et al.  Development of an intein-mediated split–Cas9 system for gene therapy , 2015, Nucleic acids research.

[49]  F. D’Antonio,et al.  Procedure‐related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta‐analysis , 2015, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

[50]  A. Flake,et al.  Developmental stage determines efficiency of gene transfer to muscle satellite cells by in utero delivery of adeno-associated virus vector serotype 2/9 , 2014, Molecular therapy. Methods & clinical development.

[51]  D. Chitayat,et al.  Spectrum and outcome of primary cardiomyopathies diagnosed during fetal life. , 2014, JACC. Heart failure.

[52]  Yoav Mayshar,et al.  Mfsd2a is critical for the formation and function of the blood–brain barrier , 2014, Nature.

[53]  Jun-Hyeok Choi,et al.  Optimization of AAV expression cassettes to improve packaging capacity and transgene expression in neurons , 2014, Molecular Brain.

[54]  Joseph Muenzer,et al.  Early initiation of enzyme replacement therapy for the mucopolysaccharidoses. , 2014, Molecular genetics and metabolism.

[55]  C. Wilmot,et al.  Standardization of α-L-iduronidase enzyme assay with Michaelis-Menten kinetics. , 2014, Molecular genetics and metabolism.

[56]  R. Giugliani,et al.  Enzyme replacement therapy started at birth improves outcome in difficult-to-treat organs in mucopolysaccharidosis I mice. , 2013, Molecular genetics and metabolism.

[57]  Y. Meng,et al.  Mucopolysaccharidosis I mutations in Chinese patients: identification of 27 novel mutations and 6 cases involving prenatal diagnosis , 2012, Clinical genetics.

[58]  W. Roberts,et al.  Cardiac disease in patients with mucopolysaccharidosis: presentation, diagnosis and management , 2011, Journal of Inherited Metabolic Disease.

[59]  M. Ehlers,et al.  Optimizing promoters for recombinant adeno-associated virus-mediated gene expression in the peripheral and central nervous system using self-complementary vectors. , 2011, Human gene therapy.

[60]  P. Zoltick,et al.  Robust in vivo transduction of nervous system and neural stem cells by early gestational intra amniotic gene transfer using lentiviral vector. , 2010, Molecular therapy : the journal of the American Society of Gene Therapy.

[61]  S. Acton,et al.  Robust Cardiomyocyte-Specific Gene Expression Following Systemic Injection of AAV: In Vivo Gene Delivery Follows a Poisson Distribution , 2010, Gene Therapy.

[62]  Yasuyuki Suzuki,et al.  Dermatan sulfate and heparan sulfate as a biomarker for mucopolysaccharidosis I , 2010, Journal of Inherited Metabolic Disease.

[63]  O. Gabrielli,et al.  Enzyme-Replacement Therapy in a 5-Month-Old Boy With Attenuated Presymptomatic MPS I: 5-Year Follow-up , 2010, Pediatrics.

[64]  J. Tolar,et al.  α-L-iduronidase therapy for mucopolysaccharidosis type I , 2008, Biologics : targets & therapy.

[65]  H. Clevers,et al.  Identification of stem cells in small intestine and colon by marker gene Lgr5 , 2007, Nature.

[66]  Steven K Boyd,et al.  Automatic segmentation of cortical and trabecular compartments based on a dual threshold technique for in vivo micro-CT bone analysis. , 2007, Bone.

[67]  K. High,et al.  Persistent expression of hF.IX After tolerance induction by in utero or neonatal administration of AAV-1-F.IX in hemophilia B mice. , 2007, Molecular therapy : the journal of the American Society of Gene Therapy.

[68]  Marcela V Maus,et al.  CD8+ T-cell responses to adeno-associated virus capsid in humans , 2007, Nature Medicine.

[69]  E. Fogarty,et al.  Mobility in Hurler Syndrome , 2006, Journal of pediatric orthopedics.

[70]  R. Moats,et al.  Neonatal gene therapy of MPS I mice by intravenous injection of a lentiviral vector. , 2005, Molecular therapy : the journal of the American Society of Gene Therapy.

[71]  W. Low,et al.  Correction of metabolic, craniofacial, and neurologic abnormalities in MPS I mice treated at birth with adeno-associated virus vector transducing the human alpha-L-iduronidase gene. , 2004, Molecular therapy : the journal of the American Society of Gene Therapy.

[72]  S. Packman,et al.  Musculoskeletal Manifestations of Hurler Syndrome: Long-Term Follow-Up After Bone Marrow Transplantation , 2004, Journal of pediatric orthopedics.

[73]  C. Mickanin,et al.  Platelet endothelial cell adhesion molecule-1 (PECAM-1/CD31): alternatively spliced, functionally distinct isoforms expressed during mammalian cardiovascular development. , 1994, Development.

[74]  C. P. Morris,et al.  Mucopolysaccharidosis type I: identification of 8 novel mutations and determination of the frequency of the two common alpha-L-iduronidase mutations (W402X and Q70X) among European patients. , 1994, Human molecular genetics.

[75]  F. Meaney,et al.  Prenatal Genetic Services: Toward a National Data Base , 1993, Clinical obstetrics and gynecology.

[76]  R. Brady,et al.  Lysosomal Storage Diseases , 1986, The Lancet.

[77]  R. Watts,et al.  Biochemical and histopathological studies on patients with mucopolysaccharidoses, two of whom had been treated by fibroblast transplantation. , 1983, Journal of clinical pathology.

[78]  C. Epstein,et al.  Lack of relationship between blood and urine levels of glycosaminoglycans and lysomal enzymes. , 1975, Biochemical medicine.

[79]  E. A. Wright,et al.  Early Prenatal Diagnosis of Hurler's Syndrome with Termination of Pregnancy and Confirmatory Findings on the Fetus , 1973, Journal of medical genetics.

[80]  M. Valsecchi,et al.  Neonatal bone marrow transplantation prevents bone pathology in a mouse model of mucopolysaccharidosis type I. , 2015, Blood.

[81]  T. Schoeb,et al.  Characterization of an MPS I-H knock-in mouse that carries a nonsense mutation analogous to the human IDUA-W402X mutation. , 2010, Molecular genetics and metabolism.

[82]  P. Zoltick,et al.  The developmental stage determines the distribution and duration of gene expression after early intra-amniotic gene transfer using lentiviral vectors , 2010, Gene Therapy.

[83]  S. Cai,et al.  Liver-directed neonatal gene therapy prevents cardiac, bone, ear, and eye disease in mucopolysaccharidosis I mice. , 2005, Molecular therapy : the journal of the American Society of Gene Therapy.

[84]  L. Moreland Platelet-endothelial cell adhesion molecule-1 , 2004 .

[85]  K. Abo,et al.  Prenatal diagnosis of Hurler's syndrome—Biochemical studies on the affected fetus , 2004, Human Genetics.

[86]  Marion Kee,et al.  Analysis , 2004, Machine Translation.

[87]  E. Fateen,et al.  Prenatal diagnosis of mucopolysaccharidoses (MPS): the first Egyptian experience. , 2004, Bratislavske lekarske listy.

[88]  J. Williams,et al.  Echocardiographic abnormalities in the mucopolysaccharide storage diseases. , 1988, The American journal of cardiology.

[89]  J. Martín,et al.  Prenatal pathology in mucopolysaccharidoses: a comparison with postnatal cases. , 1983, Clinical neuropathology.