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Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis [PDF]
Human Mutation, 2009 The neuronal ceroid lipofuscinoses (NCL) are a group of genetically heterogeneous neurodegenerative disorders. The recent identification of the MFSD8/CLN7 gene in a variant-late infantile form of NCL (v-LINCL) in affected children from Turkey prompted us to examine the relative frequency of variants in this gene in Italian patients with v-LINCL.
Mirella Filocamo +2 more
exaly +5 more sources
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Traffic, 2010
CLN7 is a polytopic lysosomal membrane protein deficient in variant late infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. In this study fluorescence protease protection assays and mutational analyses revealed the N- and C-terminal tails of CLN7 in the cytosol and two N-glycosylation sites at N371 and N376.
Thomas Braulke, Stephan Storch
exaly +3 more sources
CLN7 is a polytopic lysosomal membrane protein deficient in variant late infantile neuronal ceroid lipofuscinosis, a neurodegenerative lysosomal storage disorder. In this study fluorescence protease protection assays and mutational analyses revealed the N- and C-terminal tails of CLN7 in the cytosol and two N-glycosylation sites at N371 and N376.
Thomas Braulke, Stephan Storch
exaly +3 more sources
A New Locus for Variant Late Infantile Neuronal Ceroid Lipofuscinosis—CLN7
Molecular Genetics and Metabolism, 1999To date two genes are known to be involved in variant LINCL, CLN5 and CLN6, which map to chromosomes 13q21 and 15q21-23. A subset of Turkish families with a variant phenotype has been identified. Affected individuals have curvilinear bodies and fingerprint profiles on EM but are recombinant at CLN5 and CLN6.
R B, Wheeler +6 more
openaire +2 more sources
Aberrant upregulation of glycolysis mediates CLN7 neuronal ceroid lipofuscinosis
2022Peer ...
García-Macia, Marina +17 more
openaire +2 more sources
Human Molecular Genetics
Abstract CLN7 is a lysosomal storage disease caused by pathogenic variants in the MFSD8/CLN7 gene. Typically neurodegenerative, patients present seizures and developmental delay since 2–6 years of age and a rapid psychomotor, verbal, and visual deterioration that leads to premature death. However, ‘atypical’ cases have also been reported.
Ana Clara, Venier +8 more
openaire +2 more sources
Abstract CLN7 is a lysosomal storage disease caused by pathogenic variants in the MFSD8/CLN7 gene. Typically neurodegenerative, patients present seizures and developmental delay since 2–6 years of age and a rapid psychomotor, verbal, and visual deterioration that leads to premature death. However, ‘atypical’ cases have also been reported.
Ana Clara, Venier +8 more
openaire +2 more sources
Molecular Genetics and Metabolism, 2019
Mutations in the CLN7/MFSD8 gene encoding the lysosomal membrane protein CLN7 are causative of CLN7 disease, an inherited neurodegenerative disorder that typically affects children. To gain insight into the pathomechanisms of CLN7 disease, we established an immortalized cell line based on cerebellar (Cb) granule neuron precursors isolated from Cln7 ...
Lisa Von Kleist +2 more
exaly +3 more sources
Mutations in the CLN7/MFSD8 gene encoding the lysosomal membrane protein CLN7 are causative of CLN7 disease, an inherited neurodegenerative disorder that typically affects children. To gain insight into the pathomechanisms of CLN7 disease, we established an immortalized cell line based on cerebellar (Cb) granule neuron precursors isolated from Cln7 ...
Lisa Von Kleist +2 more
exaly +3 more sources
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis [PDF]
Human Molecular Genetics, 2010 Neuronal ceroid lipofuscinoses (NCLs) constitute a group of progressive neurodegenerative disorders resulting from mutations in at least eight different genes. Mutations in the most recently identified NCL gene, MFSD8/CLN7, underlie a variant of late-infantile NCL (vLINCL).
Michele Darmon +2 more
exaly +4 more sources
Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8
European Journal of Paediatric Neurology, 2001One variant form of late infantile neuronal ceroid lipofuscinosis (LINCL) is found predominantly within the Turkish population (CLN7). Exclusion mapping showed that CLN7 was not an allelic variant of known NCL loci (CLN1, CLN2, CLN3, CLN5 or CLN6).
W A, Mitchell +9 more
openaire +2 more sources
Untersuchung der Migrations- und Adhäsionsfähigkeit von CLN7-knockout Zellen
2023The basis for the present experiments were preliminary experiments, which suggested an involvement of the CLN7/MFSD8 gene product in cell migration as well as cell adhesion. Therefore, a concept was elaborated to investigate these cell functions comparatively.
openaire +2 more sources