Mutation analysis of MFSD8 in an amyotrophic lateral sclerosis cohort from mainland China
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Neuroscience"
DOI: 10.1111/ejn.15058
Abstract: Recent studies have suggested that rare variants in MFSD8 contribute to risk for frontotemporal dementia (FTD). Considering the common underlying pathogenesis and the shared genetic risk between amyotrophic lateral sclerosis (ALS) and FTD, we screened… read more here.
Keywords: mutation; mainland china; amyotrophic lateral; mfsd8 ... See more keywords
Mfsd8 Modulates Growth and the Early Stages of Multicellular Development in Dictyostelium discoideum
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.930235
Abstract: 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. Batten disease encompasses a… read more here.
Keywords: development; mfsd8; growth early; discoideum ... See more keywords
Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.715100
Abstract: 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. Although this pregnant woman… read more here.
Keywords: rdh12; mfsd8; family; retinitis pigmentosa ... See more keywords