Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Sign Up to like & getrecommendations! Published in 2021 at "Birth defects research"
DOI: 10.1002/bdr2.1950
Abstract: BACKGROUND Neuronal ceroid lipofuscinoses (NCLs) form a clinically and genetically heterogeneous group of inherited neurodegenerative disorders that share common neuropathological features. Although they are the first cause of neurodegenerative disorders in children, their congenital forms… read more here.
Keywords: neuronal ceroid; congenital neuronal; onset congenital; ctsd ... See more keywords
Characterization of neurological disease progression in a canine model of CLN5 neuronal ceroid lipofuscinosis.
Sign Up to like & getrecommendations! Published in 2022 at "Developmental neurobiology"
DOI: 10.1002/dneu.22878
Abstract: Golden Retriever dogs with a frameshift variant in CLN5 (c.934_935delAG) suffer from a progressive neurodegenerative disorder analogous to the CLN5 form of neuronal ceroid lipofuscinosis (NCL). Five littermate puppies homozygous for the deletion allele were… read more here.
Keywords: neuronal ceroid; ceroid lipofuscinosis; disease progression; progression ... 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
Mutation update: Review of TPP1 gene variants associated with neuronal ceroid lipofuscinosis CLN2 disease
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23860
Abstract: Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive condition caused by variants in the TPP1 gene, leading to deficient activity of the lysosomal enzyme tripeptidyl peptidase I (TPP1). We update on the… read more here.
Keywords: tpp1; neuronal ceroid; disease; ceroid lipofuscinosis ... See more keywords
Cln3‐mutations underlying juvenile neuronal ceroid lipofuscinosis cause significantly reduced levels of Palmitoyl‐protein thioesterases‐1 (Ppt1)‐protein and Ppt1‐enzyme activity in the lysosome
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12106
Abstract: Mutations in at least 13 different genes (called CLNs) underlie various forms of neuronal ceroid lipofuscinoses (NCLs), a group of the most common neurodegenerative lysosomal storage diseases. While inactivating mutations in the CLN1 gene, encoding… read more here.
Keywords: palmitoyl protein; neuronal ceroid; ceroid; cln3 mutations ... See more keywords
A mouse mutant deficient in both neuronal ceroid lipofuscinosis-associated proteins CLN3 and TPP1.
Sign Up to like & getrecommendations! Published in 2023 at "Journal of inherited metabolic disease"
DOI: 10.1002/jimd.12619
Abstract: Late-infantile neuronal ceroid lipofuscinosis (LINCL) and juvenile neuronal ceroid lipofuscinosis (JNCL) are inherited neurodegenerative diseases caused by mutations in the genes encoding lysosomal proteins tripeptidyl peptidase 1 (TPP1) and CLN3 protein, respectively. TPP1 is well-understood… read more here.
Keywords: cln3; ceroid lipofuscinosis; tpp1; cln3 tpp1 ... See more keywords
Neuronal ceroid lipofuscinosis type-11 in an adolescent
Sign Up to like & getrecommendations! Published in 2019 at "Brain and Development"
DOI: 10.1016/j.braindev.2019.03.004
Abstract: Neuronal ceroid lipofuscinosis (NCL) is a group of progressive neurodegenerative disorders characterized by intracellular accumulation of ceroid lipopigments. Based on gene defect of NCL-associated proteins, 14 types of NCL have been described till date. NCL… read more here.
Keywords: lipofuscinosis type; neuronal ceroid; ceroid; ceroid lipofuscinosis ... See more keywords
Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics.
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2020.04.018
Abstract: BACKGROUND Neuronal ceroid lipofuscinosis type 2 or CLN2 disease is a rare, autosomal recessive, neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 deficiency. Cerliponase alfa, a recombinant human tripeptidyl peptidase 1 enzyme, is the… read more here.
Keywords: lipofuscinosis type; neuronal ceroid; disease; ceroid lipofuscinosis ... See more keywords
Generation of pathogenic TPP1 mutations in human stem cells as a model for neuronal ceroid lipofuscinosis type 2 disease.
Sign Up to like & getrecommendations! Published in 2021 at "Stem cell research"
DOI: 10.1016/j.scr.2021.102323
Abstract: Neuronal ceroid lipofuscinosis type 2 (CLN2 disease) is an autosomal recessive neurodegenerative disorder generally with onset at 2 to 4 years of age and characterized by seizures, loss of vision, progressive motor and mental decline, and… read more here.
Keywords: neuronal ceroid; disease; ceroid lipofuscinosis; type ... See more keywords
ATP13A2 missense variant in Australian Cattle Dogs with late onset neuronal ceroid lipofuscinosis
Sign Up to like & getrecommendations! Published in 2019 at "Molecular genetics and metabolism"
DOI: 10.1016/j.ymgme.2018.11.015
Abstract: The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage disorders characterized by progressive neurodegeneration and declines in neurological functions. Pathogenic sequence variants in at least 13 genes underlie different forms of NCL, almost all of which… read more here.
Keywords: neuronal ceroid; atp13a2 missense; australian cattle; missense variant ... See more keywords
An improved, novel, systemically administered AAV gene therapy for treatment of CLN3 juvenile neuronal ceroid lipofuscinosis
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism"
DOI: 10.1016/j.ymgme.2018.12.202
Abstract: Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is a lysosomal storage disease caused by an autosomal recessively inherited mutation in the CLN3 gene. JNCL is a progressive neurodegenerative disorder in which the central nervous system (CNS) is… read more here.
Keywords: neuronal ceroid; juvenile neuronal; ceroid lipofuscinosis; biodistribution ... See more keywords