Associated Papers
AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in familial dysautonomia.
Chekuri A et al.
Molecular Therapy. Nucleic Acids, 2026
Exploratory Analysis of ELP1 Expression in Whole Blood From Patients With Familial Dysautonomia.
González-Duarte A et al.
Annals of Clinical and Translational Neurology, 2025
AAV2-mediated intravitreal delivery of exon-specific U1 snRNA rescues optic neuropathy in a mouse model of familial dysautonomia.
Chekuri A et al.
Biorxiv : the Preprint Server for Biology, 2025
Advances in the treatment of familial dysautonomia: what does the future hold?
Grobocopatel Marra M et al.
Expert Review of Neurotherapeutics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Correction of aberrant splicing of ELP1 pre-mRNA by kinetin derivatives - A structure activity relationship study.
Maková B et al.
European Journal of Medicinal Chemistry, 2025
Engineered CRISPR-Base Editors as a Permanent Treatment for Familial Dysautonomia.
Yun S et al.
Biorxiv : the Preprint Server for Biology, 2024
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Metabolic Deficits in the Retina of a Familial Dysautonomia Mouse Model.
Costello SM et al.
Metabolites, 2024
Expanded targeted preconception screening panel in Israel: findings and insights.
Reches A et al.
Journal of Medical Genetics, 2024
The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos.
Xia Y et al.
F&s Reports, 2024
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
Harripaul R et al.
Scientific Reports, 2024
Age-dependent regulation of ELP1 exon 20 splicing in Familial Dysautonomia by RNA Polymerase II kinetics and chromatin structure.
Riccardi F et al.
Plos One, 2024
Shortcomings of ethnicity-based carrier screening for conditions associated with Ashkenazi Jewish ancestry.
Llorin H et al.
Genetics in Medicine Open, 2024
Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators.
Schultz A et al.
Scientific Reports, 2023
Transcriptome analysis in a humanized mouse model of familial dysautonomia reveals tissue-specific gene expression disruption in the peripheral nervous system.
Harripaul R et al.
Biorxiv : the Preprint Server for Biology, 2023
Development of Engineered-U1 snRNA Therapies: Current Status.
Gonçalves M et al.
International Journal of Molecular Sciences, 2023
Genetic predisposition to ocular surface disorders and opportunities for gene-based therapies.
Roshandel D et al.
The Ocular Surface, 2023
Contribution of A-to-I RNA editing, M6A RNA Methylation, and Alternative Splicing to physiological brain aging and neurodegenerative diseases.
Tassinari V et al.
Mechanisms of Ageing and Development, 2023
Familial dysautonomia.
González-Duarte A et al.
Clinical Autonomic Research : Official Journal of the Clinical Autonomic Research Society, 2023
Reduction of retinal ganglion cell death in mouse models of familial dysautonomia using AAV-mediated gene therapy and splicing modulators.
Schultz A et al.
Biorxiv : the Preprint Server for Biology, 2023
A Comprehensive NMR Analysis of Serum and Fecal Metabolites in Familial Dysautonomia Patients Reveals Significant Metabolic Perturbations.
Costello SM et al.
Metabolites, 2023
Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.
Morini E et al.
American Journal of Human Genetics, 2023
Autonomic failure: Clinicopathologic, physiologic, and genetic aspects.
Younger DS
Handbook of Clinical Neurology, 2023
Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.
Waldman S et al.
Cell, 2022
Carnosol, a diterpene present in rosemary, increases ELP1 levels in familial dysautonomia patient-derived cells and healthy adults: a possible therapy for FD.
Anderson SL et al.
Human Molecular Genetics, 2022
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA.
Romano G et al.
American Journal of Human Genetics, 2022
Exon Skipping Through Chimeric Antisense U1 snRNAs to Correct Retinitis Pigmentosa GTPase-Regulator (RPGR) Splice Defect.
Covello G et al.
Nucleic Acid Therapeutics, 2022
Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.
Morini E et al.
Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2022
Selective retinal ganglion cell loss and optic neuropathy in a humanized mouse model of familial dysautonomia.
Chekuri A et al.
Human Molecular Genetics, 2022
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
The Contribution of COL4A5 Splicing Variants to the Pathogenesis of X-Linked Alport Syndrome.
Yamamura T et al.
Frontiers in Medicine, 2022
Identification of Novel Mutations in Chinese Infants With Citrullinemia.
Cheng Z et al.
Frontiers in Genetics, 2022
Induced pluripotent stem cell (iPSC) lines from two individuals carrying a homozygous (BGUi007-A) and a heterozygous (BGUi006-A) mutation in ELP1 for in vitro modeling of familial dysautonomia.
Dor L et al.
Stem Cell Research, 2021
Therapeutic manipulation of IKBKAP mis-splicing with a small molecule to cure familial dysautonomia.
Ajiro M et al.
Nature Communications, 2021
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Gao D et al.
Nature Communications, 2021
Neurodegenerative diseases: a hotbed for splicing defects and the potential therapies.
Li D et al.
Translational Neurodegeneration, 2021
The Complex Clinical and Genetic Landscape of Hereditary Peripheral Neuropathy.
Ghosh S et al.
Annual Review of Pathology, 2021
Targeted Therapies for Hereditary Peripheral Neuropathies: Systematic Review and Steps Towards a 'treatabolome'.
Jennings MJ et al.
Journal of Neuromuscular Diseases, 2021