Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Biallelic MFSD8 variants are an established cause of severe late-infantile subtype of neuronal ceroid lipofuscinosis (v-LINCL), a severe lysosomal storage disorder, but have also been associated with nonsyndromic adult-onset maculopathy.
|
31721179 |
2020 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Because homozygous mutations in MFSD8 cause neuronal ceroid lipofuscinosis (NCL), similar to homozygous mutations in GRN, we assessed rare variants in MFSD8 for relevance to FTLD through experimental follow-up studies.
|
30382371 |
2019 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
Biomarker
|
disease |
BEFREE |
Cln7, a major facilitator superfamily domain-containing protein, is affected in a late infantile-onset form of NCL.
|
31666534 |
2019 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report.
|
30144815 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
Biomarker
|
disease |
BEFREE |
Defects in the MFSD8 gene encoding the lysosomal membrane protein CLN7 lead to CLN7 disease, a neurodegenerative lysosomal storage disorder belonging to the group of neuronal ceroid lipofuscinoses.
|
29514215 |
2018 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Neuronal ceroid lipofuscinosis associated with an MFSD8 mutation in Chihuahuas.
|
27211611 |
2016 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
Biomarker
|
disease |
BEFREE |
Homozygous Mfsd8((tm1a/tm1a)) mice were viable and fertile and resembled biochemically the NCL-phenotype of human CLN7 patients including the accumulation of autofluorescent material in the brain and peripheral tissues and of subunit c of mitochondrial ATP synthase in the cerebellum and nuclei of distinct brain regions, and the degeneration of photoreceptor cells in the retina.
|
24423645 |
2014 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
Biomarker
|
disease |
MGD |
Homozygous Mfsd8((tm1a/tm1a)) mice were viable and fertile and resembled biochemically the NCL-phenotype of human CLN7 patients including the accumulation of autofluorescent material in the brain and peripheral tissues and of subunit c of mitochondrial ATP synthase in the cerebellum and nuclei of distinct brain regions, and the degeneration of photoreceptor cells in the retina.
|
24423645 |
2014 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A detailed metabolic investigation in proband C for progressive visual failure supported suspicion of neuronal ceroid lipofuscinosis type 7 conditioned by the mutation in the MFSD8 gene.
|
23386035 |
2013 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In one patient with an in-frame amino acid substitution mutation in CLN7/MFSD8, the disease onset was later and the disease course less aggressive than in variant late-infantile NCL.
|
19201763 |
2009 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
We report our linkage data on a family with late-infantile NCL and show that the disease in this family is due to a homozygous novel mutation in the most recently described NCL gene (MFSD8).
|
19277732 |
2009 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Toward identifying the CLN7 gene we here screened the known NCL loci for homozygosity in nine Turkish vLINCL families.
|
15996215 |
2005 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A variant form of late infantile NCL (vLINCL) present in Turkish patients has been considered a distinct clinical and genetic entity among the NCL, the underlying gene (CLN7) being unknown.
|
15024724 |
2004 |
Neuronal Ceroid-Lipofuscinoses
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|