Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants [PDF]
Molecular Genetics & Genomic MedicineBackground Biallelic variants in the major facilitator superfamily domain containing 8 gene (MFSD8) are associated with distinct clinical presentations that range from typical late‐infantile neuronal ceroid lipofuscinosis type 7 (CLN7 disease) to ...
Emily Gardner, , Sara Mole
exaly +6 more sources
Mfsd8 Modulates Growth and the Early Stages of Multicellular Development in Dictyostelium discoideum [PDF]
Frontiers in Cell and Developmental Biology, 2022 MFSD8 is a transmembrane protein that has been reported to transport chloride ions across the lysosomal membrane. Mutations in MFSD8 are associated with a subtype of Batten disease called CLN7 disease.
William David Kim +2 more
exaly +6 more sources
Case Report: Novel MFSD8 Variants in a Chinese Family With Neuronal Ceroid Lipofuscinoses 7 [PDF]
Frontiers in Genetics, 2022 Neuronal ceroid lipofuscinoses (NCLs) are among the most common progressive encephalopathies of childhood. Neuronal ceroid lipofuscinosis 7 (CLN7), one of the late infantile-onset NCLs, is an autosomal recessive disorder caused by mutations in the MFSD8 ...
Yang Gu, QINGHE Xing, Ye Cheng
exaly +7 more sources
Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa [PDF]
Frontiers in Genetics, 2021 Retinitis pigmentosa (RP) is characterized by tremendous genetic and phenotypic heterogeneity. Here, we investigate the pathogeny of RP in a family to provide evidence for genetic and reproductive counseling for families.
Li Zhuo, Yanling Teng, Lingqian Wu
exaly +7 more sources
AAV9/MFSD8 gene therapy is effective in preclinical models of neuronal ceroid lipofuscinosis type 7 disease [PDF]
Journal of Clinical Investigation, 2022 Neuronal ceroid lipofuscinosis type 7 (CLN7) disease is a lysosomal storage disease caused by mutations in the facilitator superfamily domain containing 8 (MFSD8) gene, which encodes a membrane-bound lysosomal protein, MFSD8.
Steven J Gray +2 more
exaly +6 more sources
Exclusively Macular Phenotype of Non-Syndromic <italic>MFSD8</italic>-Related Disease: A Case Report [PDF]
Case Reports in OphthalmologyIntroduction: The purpose of this report was to highlight the clinical phenotype and imaging findings in a patient with an exclusively macular phenotype of non-syndromic MFSD8-related disease and to provide clinical evidence for pathogenicity ...
Sean Ghiam +7 more
doaj +4 more sources
Novel MFSD8 Variants in a Chinese Family with Nonsyndromic Macular Dystrophy [PDF]
Journal of Ophthalmology, 2021 Purpose. To identify the molecular etiology of a Chinese family with nonsyndromic macular dystrophy. Methods. Ophthalmic examinations were performed, and genomic DNA was extracted from available family members.
Qin Xiang +8 more
doaj +3 more sources
Loss of mfsd8 alters the secretome during Dictyostelium aggregation
European Journal of Cell Biology, 2023 Major facilitator superfamily domain-containing protein 8 (MFSD8) is a transmembrane protein that has been reported to function as a lysosomal chloride channel.
Robert J. Huber +2 more
doaj +3 more sources
CLN7/MFSD8 may be an important factor for SARS-CoV-2 cell entry [PDF]
iScience, 2022 Summary: The SARS-CoV-2 virus has triggered a worldwide pandemic. According to the BioGrid database, CLN7 (MFSD8) is thought to interact with several viral proteins.
Elena-Sofia Heinl +16 more
doaj +5 more sources
Molecular analysis and prenatal diagnosis of seven Chinese families with genetic epilepsy [PDF]
Frontiers in Neuroscience, 2023 IntroductionGenetic epilepsy is a large group of clinically and genetically heterogeneous neurological disorders characterized by recurrent seizures, which have a clear association with genetic defects.
Bin Mao +21 more
doaj +2 more sources