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
40485231 (PubMed )
Supplement: supplementary_material_hmg-2025-oa-00132_r1_valigi_et_al_ddaf089.pdf
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
Proteolytic cleavage of the disease-related lysosomal membrane glycoprotein CLN7.
Steenhuis P et al.
Biochimica Et Biophysica Acta, 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
Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.
Aldahmesh MA et al.
Neurogenetics, 2009
Analysis of NCL Proteins from an Evolutionary Standpoint.
Muzaffar NE et al.
Current Genomics, 2008
The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.
Siintola E et al.
American Journal of Human Genetics, 2007
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