Associated Papers
Elucidating photoreceptor gene function with in-vivo CRISPR knock-out perturbation assay.
Sangermano R et al.
Research Square, 2025
Oxidative DNA Damage Drives Apoptotic Photoreceptor Loss in NMNAT1 -Associated Inherited Retinal Degeneration: A Therapeutic Opportunity.
Zhang H et al.
Biorxiv : the Preprint Server for Biology, 2025
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.
Ullah M et al.
Npj Genomic Medicine, 2025
Optimized Prime Editing of Human Induced Pluripotent Stem Cells to Efficiently Generate Isogenic Models of Mendelian Diseases.
Cerna-Chavez R et al.
International Journal of Molecular Sciences, 2024
Identification and characterization of NMNAT1 gene mutations in an Iranian patient with Leber congenital amaurosis 9.
Neissi M et al.
Clinical Case Reports, 2024
Next-generation sequencing to genetically diagnose a diverse range of inherited eye disorders in 15 consanguineous families from Pakistan.
Basharat R et al.
Experimental Eye Research, 2024
A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.
Munir A et al.
Bmc Ophthalmology, 2024
Expression of NMNAT1 in the photoreceptors is sufficient to prevent NMNAT1-associated retinal degeneration.
Brown EE et al.
Molecular Therapy. Methods & Clinical Development, 2023
Role of Nuclear NAD+ in Retinal Homeostasis.
Brown EE et al.
Advances in Experimental Medicine and Biology, 2023
Reduced nuclear NAD+ drives DNA damage and subsequent immune activation in the retina.
Brown EE et al.
Human Molecular Genetics, 2022
Panel-based genetic testing for inherited retinal disease screening 176 genes.
Sheck LHN et al.
Molecular Genetics & Genomic Medicine, 2021
NAD+ homeostasis in human health and disease.
Zapata-Pérez R et al.
Embo Molecular Medicine, 2021
Mutant Nmnat1 leads to a retina-specific decrease of NAD+ accompanied by increased poly(ADP-ribose) in a mouse model of NMNAT1-associated retinal degeneration.
Greenwald SH et al.
Human Molecular Genetics, 2021
Phenotype and Genotype Correlations in Inherited Retinal Diseases: Population-Guided Variant Interpretation, Variable Expressivity and Incomplete Penetrance.
Ellingford JM et al.
Genes, 2020
SARM1 depletion rescues NMNAT1-dependent photoreceptor cell death and retinal degeneration.
Sasaki Y et al.
Elife, 2020
Gene Therapy Preserves Retinal Structure and Function in a Mouse Model of NMNAT1-Associated Retinal Degeneration.
Greenwald SH et al.
Molecular Therapy. Methods & Clinical Development, 2020
Exploring the Genetic Landscape of Retinal Diseases in North-Western Pakistan Reveals a High Degree of Autozygosity and a Prevalent Founder Mutation in ABCA4.
Rehman AU et al.
Genes, 2019
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype.
Eblimit A et al.
Experimental Eye Research, 2018
Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease.
Greenwald SH et al.
The American Journal of Pathology, 2016
Clinical and genetic findings in a family with NMNAT1-associated Leber congenital amaurosis: case report and review of the literature.
Hedergott A et al.
Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2015
A novel missense NMNAT1 mutation identified in a consanguineous family with Leber congenital amaurosis by targeted next generation sequencing.
Deng Y et al.
Gene, 2015
Characterization of Leber Congenital Amaurosis-associated NMNAT1 Mutants.
Sasaki Y et al.
The Journal of Biological Chemistry, 2015
Novel NMNAT1 mutations causing Leber congenital amaurosis identified.
Kaur A
Clinical Genetics, 2013
NMNAT1 mutations cause Leber congenital amaurosis.
Falk MJ et al.
Nature Genetics, 2012