Associated Papers
CLN7 protein functions at the interface between endolysosomes and stress granules to promote cell survival.
Sharaireh A et al.
Cell Death & Disease, 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
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
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
Whole exome screening of neurodevelopmental regression disorders in a cohort of Egyptian patients.
Refeat MM et al.
Neurogenetics, 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
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis.
Lopez-Fabuel I et al.
Nature Communications, 2022
CLN7 is an organellar chloride channel regulating lysosomal function.
Wang Y et al.
Science Advances, 2021
Rett Syndrome Spectrum in Monogenic Developmental-Epileptic Encephalopathies and Epilepsies: A Review.
Spagnoli C et al.
Genes, 2021
Next-generation sequencing in childhood-onset epilepsies: Diagnostic yield and impact on neuronal ceroid lipofuscinosis type 2 (CLN2) disease diagnosis.
Gall K et al.
Plos One, 2021
The Genetic Basis of Phenotypic Heterogeneity in the Neuronal Ceroid Lipofuscinoses.
Gardner E et al.
Frontiers in Neurology, 2021
Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.
Bauwens M et al.
Clinical Genetics, 2020
Clinical implementation of gene panel testing for lysosomal storage diseases.
Gheldof A et al.
Molecular Genetics & Genomic Medicine, 2019
Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases.
Koumbaris G et al.
Molecular Cytogenetics, 2019
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
Retinal Degeneration in Mice Deficient in the Lysosomal Membrane Protein CLN7.
Jankowiak W et al.
Investigative Ophthalmology & Visual Science, 2016
The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.
Kohan R et al.
Biochimica Et Biophysica Acta, 2015
Rett-like onset in late-infantile neuronal ceroid lipofuscinosis (CLN7) caused by compound heterozygous mutation in the MFSD8 gene and review of the literature data on clinical onset signs.
Craiu D et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2015
Lysoplex: An efficient toolkit to detect DNA sequence variations in the autophagy-lysosomal pathway.
Di Fruscio G et al.
Autophagy, 2015
Application of next-generation sequencing technologies in Neurology.
Jiang T et al.
Annals of Translational Medicine, 2014
Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders.
Fernández-Marmiesse A et al.
Orphanet Journal of Rare Diseases, 2014
The neuronal ceroid-lipofuscinoses.
Bennett MJ et al.
Developmental Disabilities Research Reviews, 2013
Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7.
Steenhuis P et al.
Biochimica Et Biophysica Acta, 2012
Targeted next generation sequencing as a diagnostic tool in epileptic disorders.
Lemke JR et al.
Epilepsia, 2012
[Neuronal ceroid lipofuscinosis: diagnostic algorithm and clinical description of the Finnish (CLN5) and Turkish (CLN7) variants late infantile].
Pérez-Poyato M S et al.
Revista De Neurologia, 2012
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M et al.
Human Mutation, 2012
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis.
Sharifi A et al.
Human Molecular Genetics, 2010
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
Clinico-pathological manifestations of variant late infantile neuronal ceroid lipofuscinosis (vLINCL) caused by a novel mutation in MFSD8 gene.
Mandel H et al.
European Journal of Medical Genetics, 0