Association of the Recurrent Rare Variant c.415T>C p.Phe139Leu in CLN5 With a Recessively Inherited Macular Dystrophy.
Sign Up to like & getrecommendations! Published in 2021 at "JAMA ophthalmology"
DOI: 10.1001/jamaophthalmol.2020.6085
Abstract: Importance Homozygous variants in the neuronal ceroid lipofuscinosis type 5 (CLN5) gene are associated with neuronal ceroid lipofuscinosis, a progressive neurologic disorder that leads to ataxia, seizures, and early death. The association between a homozygous… read more here.
Keywords: dystrophy; cln5; variant 415t; macular dystrophy ... See more keywords
Characterization of neuropathology in ovine CLN5 and CLN6 neuronal ceroid lipofuscinoses (Batten disease).
Sign Up to like & getrecommendations! Published in 2023 at "Developmental neurobiology"
DOI: 10.1002/dneu.22918
Abstract: Sheep with naturally occurring CLN5 and CLN6 forms of neuronal ceroid lipofuscinoses (Batten disease) share the key clinical features of the human disease and represent an ideal model system in which the clinical efficacy of… read more here.
Keywords: cln5; ceroid lipofuscinoses; disease; cln5 cln6 ... See more keywords
Cln5 represents a new type of cysteine-based S-depalmitoylase linked to neurodegeneration
Sign Up to like & getrecommendations! Published in 2022 at "Science Advances"
DOI: 10.1126/sciadv.abj8633
Abstract: Genetic CLN5 variants are associated with childhood neurodegeneration and Alzheimer’s disease; however, the molecular function of ceroid lipofuscinosis neuronal protein 5 (Cln5) is unknown. We solved the Cln5 crystal structure and identified a region homologous… read more here.
Keywords: cysteine; cysteine based; activity; neurodegeneration ... See more keywords
An altered transcriptome underlies cln5-deficiency phenotypes in Dictyostelium discoideum
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.1045738
Abstract: Mutations in CLN5 cause a subtype of neuronal ceroid lipofuscinosis (NCL) called CLN5 disease. The NCLs, commonly referred to as Batten disease, are a family of neurodegenerative lysosomal storage diseases that affect all ages and… read more here.
Keywords: cell; cln5; growth; cln5 deficiency ... See more keywords