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
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
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
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
Neuronal Ceroid Lipofuscinosis: A Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India
Sign Up to like & getrecommendations! Published in 2020 at "Journal of pediatric genetics"
DOI: 10.1055/s-0040-1715575
Abstract: Neuronal ceroid Lipofuscinosis (NCL), inherited disorders of lysosomal storage disorders, constitute the most common progressive encephalopathies with an incidence of 1.3 to 7 in 100,000 live births. We report clinical, electrophysiological, radiological, ultrastructural, and molecular… read more here.
Keywords: tertiary care; neuronal ceroid; ceroid lipofuscinosis; microscopy ... See more keywords
Multimodal retinal imaging in MFSD8-neuronal ceroid lipofuscinosis
Sign Up to like & getrecommendations! Published in 2020 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1709125
Abstract: We read with interest the recent article by Zare-Abdollahi et al where it was suggested that two recessive missense variants in MSFD8 (c.1235C>T; p.P412L and c.1361T>C; p. M454T), which each have been associated previously with… read more here.
Keywords: neuronal ceroid; retinal imaging; disease; multimodal retinal ... See more keywords
Advances in the treatment of neuronal ceroid lipofuscinosis
Sign Up to like & getrecommendations! Published in 2019 at "Expert Opinion on Orphan Drugs"
DOI: 10.1080/21678707.2019.1684258
Abstract: ABSTRACT Introduction: Neuronal ceroid lipofuscinoses (NCL) are neurodegenerative lysosomal storage disorders typically characterized by cognitive and visual impairments, epileptic seizures, ataxia, and deterioration of motor skills. Recent success of Brineura® for the treatment of neurologic… read more here.
Keywords: treatment neuronal; neuronal ceroid; treatment; ceroid lipofuscinosis ... See more keywords
Photosensitivity is an early marker of neuronal ceroid lipofuscinosis type 2 disease
Sign Up to like & getrecommendations! Published in 2017 at "Epilepsia"
DOI: 10.1111/epi.13820
Abstract: This study aimed to identify early clinical, magnetic resonance imaging (MRI), and electroencephalographic (EEG) characteristics of neuronal ceroid lipofuscinosis type 2 (CLN2) disease to enable early diagnosis, thus providing the key to early treatment, and… read more here.
Keywords: disease; lipofuscinosis type; neuronal ceroid; ceroid lipofuscinosis ... See more keywords