Associated Papers
UNRAVELING CLN7 disease: the distinct roles of two close MFSD8/CLN7 splice variants in phenotypic expression.
Venier AC et al.
Human Molecular Genetics, 2025
Mistargeting and ER retention of CLN7 patient-associated nonsense and sequence deletion mutations as a novel cause for CLN7 disease.
Valigi F et al.
Human Molecular Genetics, 2025
Neuronal Ceroid Lipofuscinoses Type 7 (CLN7)- A Case Series Reporting Cross Sectional and Retrospective Clinical Data to Evaluate Validity of Standardized Tools to Assess Disease Progression, Quality of Life, and Adaptive Skills.
Kayani S et al.
Research Square, 2024
Haploidentical haematopoietic stem cell transplantation combined with post-transplant cyclophosphamide in neuronal ceroid lipofuscinosis: Experience in eight patients.
Song Z et al.
Medicina Clinica, 2024
Novel MFSD8 mutation causing non-syndromic asymmetric adult-onset macular dystrophy.
Priluck AZ et al.
Ophthalmic Genetics, 2023
Linear Diagnostic Procedure Elicited by Clinical Genetics and Validated by mRNA Analysis in Neuronal Ceroid Lipofuscinosis 7 Associated with a Novel Non-Canonical Splice Site Variant in MFSD8.
Pasquetti D et al.
Genes, 2023
Long-term progression of retinal degeneration in a preclinical model of CLN7 Batten disease as a baseline for testing clinical therapeutics.
Rowe AA et al.
Ebiomedicine, 2022
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants.
Poncet AF et al.
International Journal of Molecular Sciences, 2022
Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.
Guelbert G et al.
Frontiers in Neurology, 2022
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.
Maddirevula S et al.
Genome Biology, 2020
An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.
Cipriani V et al.
Genes, 2020
Specific Alleles of CLN7/MFSD8, a Protein That Localizes to Photoreceptor Synaptic Terminals, Cause a Spectrum of Nonsyndromic Retinal Dystrophy.
Khan KN et al.
Investigative Ophthalmology & Visual Science, 2017
mTORC1-independent TFEB activation via Akt inhibition promotes cellular clearance in neurodegenerative storage diseases.
Palmieri M et al.
Nature Communications, 2017
Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7.
Jankowiak W et al.
Investigative Ophthalmology & Visual Science, 2016
Lysosomal dysfunction and impaired autophagy in a novel mouse model deficient for the lysosomal membrane protein Cln7.
Brandenstein L et al.
Human Molecular Genetics, 2016
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
Kohan R et al.
Biochimica Et Biophysica Acta, 2015
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7.
Steenhuis P et al.
Biochimica Et Biophysica Acta, 2012
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
Aiello C et al.
Human Mutation, 2009
Mutations in CLN7/MFSD8 are a common cause of variant late-infantile neuronal ceroid lipofuscinosis.
Kousi M et al.
Brain : a Journal of Neurology, 2009