Associated Papers
Molecular Profile of Mucopolysaccharidosis Type I Patients in Brazil.
Cruz CRC et al.
Journal of Inherited Metabolic Disease, 2026
Pilot Study of Preconception Carrier Screening in Russia: Initial Findings and Challenges.
Glotov AS et al.
Genes, 2025
Genetic Spectrum of Negative Electroretinograms in a Predominantly Pediatric Cohort of 177 Patients.
Zaslavsky K et al.
Investigative Ophthalmology & Visual Science, 2025
Neuroimaging and spinal manifestations of mucopolysaccharidosis type I: Insights from a pediatric case.
Boujida N et al.
Radiology Case Reports, 2025
Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.
Pierce SE et al.
Nature, 2025
Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.
Cope HL et al.
Nature Medicine, 2025
Genetic Insights and Diagnostic Challenges in Highly Attenuated Lysosomal Storage Disorders.
Urizar E et al.
Genes, 2025
Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.
Stark JC et al.
Genome Medicine, 2025
Genetic variations in the IDUA gene in Tunisian MPS I families: Identification of a novel microdeletion disrupting substrate binding and structural insights.
Rebai M et al.
Molecular Genetics and Metabolism Reports, 2025
Prenatal diagnosis of mucopolysaccharidosis type I on hepatosplenomegaly and coarse features: a case-report.
Agranier M et al.
Bmc Pregnancy and Childbirth, 2025
Collagen fibril formation at the plasma membrane occurs independently from collagen secretion.
Pickard A et al.
Wellcome Open Research, 2025
Functional assessment of IDUA variants of uncertain significance identified by newborn screening.
Yu SH et al.
Npj Genomic Medicine, 2024
The Role of Gene Expression Dysregulation in the Pathogenesis of Mucopolysaccharidosis: A Comparative Analysis of Shared and Specific Molecular Markers in Neuronopathic and Non-Neuronopathic Types of the Disease.
Wiśniewska K et al.
International Journal of Molecular Sciences, 2024
CRISPR/Cas9 technology in the modeling of and treatment of mucopolysaccharidosis.
Reyhani-Ardabili M et al.
Biochemistry and Biophysics Reports, 2024
Pathogenic Gene Variants Identified in Patients Presenting With Perthes or Perthes-like Hip Disorder.
Marchelli G et al.
Journal of Pediatric Orthopedics, 2024
Collagen fibril formation at the plasma membrane occurs independently from collagen secretion.
Pickard A et al.
Biorxiv : the Preprint Server for Biology, 2024
Cellular Organelle-Related Transcriptomic Profile Abnormalities in Neuronopathic Types of Mucopolysaccharidosis: A Comparison with Other Neurodegenerative Diseases.
Wiśniewska K et al.
Current Issues in Molecular Biology, 2024
Metabolic rewiring and autophagy inhibition correct lysosomal storage disease in mucopolysaccharidosis IIIB.
Scarcella M et al.
Iscience, 2024
Adenotonsillar pathology in mucopolysaccharidoses - lysosomal storage predominates in paracortical CD63+ cells.
Murgasova L et al.
Virchows Archiv : an International Journal of Pathology, 2024
Mucopolysaccharidosis Type I: The Importance of Early Diagnosis for Adequate Treatment.
Diogo R et al.
Cureus, 2023
Hematopoietic cell transplantation for Mucopolysaccharidosis I in the presence of decreased cardiac function.
Pillai NR et al.
Molecular Genetics and Metabolism, 2023
Drug-induced eRF1 degradation promotes readthrough and reveals a new branch of ribosome quality control.
Gurzeler LA et al.
Cell Reports, 2023
Phenotypic characterisation of the Mucopolysaccharidosis Type I (MPSI) Idua-W392X mouse model reveals increased anxiety-related traits in female mice.
Andreou T et al.
Molecular Genetics and Metabolism, 2023
Pharmaceuticals Promoting Premature Termination Codon Readthrough: Progress in Development.
Li S et al.
Biomolecules, 2023
Mucopolysaccharidosis Type I Presenting with Persistent Neonatal Respiratory Distress: A Case Report.
Asseri AA et al.
Diseases (basel, Switzerland), 2023
Mucopolysaccharidosis Type I in Mexico: Case-Based Review.
Cantú-Reyna C et al.
Children (basel, Switzerland), 2023
Emerging Personalized Opportunities for Enhancing Translational Readthrough in Rare Genetic Diseases and Beyond.
Wagner RN et al.
International Journal of Molecular Sciences, 2023
Long term follow-up after haematopoietic stem cell transplantation for mucopolysaccharidosis type I-H: a retrospective study of 51 patients.
Gardin A et al.
Bone Marrow Transplantation, 2023
Triamterene Functions as an Effective Nonsense Suppression Agent for MPS I-H (Hurler Syndrome).
Siddiqui A et al.
International Journal of Molecular Sciences, 2023
In vivo adenine base editing corrects newborn murine model of Hurler syndrome.
Su J et al.
Molecular Biomedicine, 2023
18-year follow-up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I.
Pjetraj D et al.
American Journal of Medical Genetics. Part A, 2023
ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing.
Kaplun L et al.
Frontiers in Genetics, 2023
Synthesis and Evaluation of Novel Triaryl Derivatives with Readthrough-Inducing Activity.
Kawai S et al.
Chemical & Pharmaceutical Bulletin, 2023
Discovery of Novel Chromenopyridine Derivatives as Readthrough-Inducing Drugs.
Kawai S et al.
Chemical & Pharmaceutical Bulletin, 2023
Molecular docking analysis of a dermatan sulfate tetra-saccharide to human alpha-L-iduronidase.
Durán-Gutiérrez DP et al.
Bioinformation, 2023
Effects of gentamicin inducing readthrough premature stop Codons: A study of alpha-L-iduronidase nonsense variants in COS-7 Cells.
Ngiwsara L et al.
Biochemical and Biophysical Research Communications, 2022
MPSI Manifestations and Treatment Outcome: Skeletal Focus.
De Ponti G et al.
International Journal of Molecular Sciences, 2022
A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I.
Zhang T et al.
Molecular Genetics and Metabolism, 2022
Ataluren suppresses a premature termination codon in an MPS I-H mouse.
Wang D et al.
Journal of Molecular Medicine (berlin, Germany), 2022
Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review.
Pillai NR et al.
Genes, 2022
Newborn screening of mucopolysaccharidosis type I.
Burlina AB et al.
Critical Reviews in Clinical Laboratory Sciences, 2022
Alpha-L-iduronidase deficiency: A novel mutation resulting in severe early presentation of Mucopolysaccharidosis type I and literature review of the molecular basis.
Al Zaabi NN et al.
Clinical Case Reports, 2022
Splicing Modulation as a Promising Therapeutic Strategy for Lysosomal Storage Disorders: The Mucopolysaccharidoses Example.
Santos JI et al.
Life (basel, Switzerland), 2022
AAV-delivered suppressor tRNA overcomes a nonsense mutation in mice.
Wang J et al.
Nature, 2022
Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies.
Gaffke L et al.
Metabolic Brain Disease, 2022
Evidence of Treatment Benefits in Patients with Mucopolysaccharidosis Type I-Hurler in Long-term Follow-up Using a New Magnetic Resonance Imaging Scoring System.
Pontesilli S et al.
The Journal of Pediatrics, 2022
In silico analysis of potential off-target sites to gene editing for Mucopolysaccharidosis type I using the CRISPR/Cas9 system: Implications for population-specific treatments.
Carneiro P et al.
Plos One, 2022
Delivering gene therapy for mucopolysaccharide diseases.
Wood SR et al.
Frontiers in Molecular Biosciences, 2022