Associated Papers
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
Maculopathy and adult-onset ataxia in patients with biallelic MFSD8 variants.
Dobloug S et al.
Molecular Genetics & Genomic Medicine, 2024
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
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
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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
31589614 (PubMed )
Supplement: pgen.1008409.s001.xlsx › P_LP_Variants
Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia.
Geier EG et al.
Acta Neuropathologica, 2019
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
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy.
Roosing S et al.
Ophthalmology, 2015
Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis.
Aiello C et al.
Human Mutation, 2009
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