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
Ocular Manifestations of Neuronal Ceroid Lipofuscinoses
Sign Up to like & getrecommendations! Published in 2021 at "Seminars in Ophthalmology"
DOI: 10.1080/08820538.2021.1936571
Abstract: ABSTRACT Neuronal ceroid lipofuscinoses (NCLs) are a group of rare neurodegenerative storage disorders associated with devastating visual prognosis, with an incidence of 1/1,000,000 in the United States and comparatively higher incidence in European countries. The… read more here.
Keywords: incidence; ocular manifestations; neuronal ceroid; ceroid lipofuscinoses ... See more keywords
Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses.
Sign Up to like & getrecommendations! Published in 2022 at "Autophagy"
DOI: 10.1080/15548627.2022.2140882
Abstract: Lysosomes are essential catabolic organelles responsible for the degradation of biomacromolecules into low-molecular-weight materials for subsequent reuse. Neuronal ceroid lipofuscinoses (NCLs) are a group of fatal neurodegenerative lysosomal storage disorders characterized by the intracellular accumulation… read more here.
Keywords: kctd7; ceroid lipofuscinoses; kctd7 mutated; accumulation ... See more keywords
Autophagy in the Neuronal Ceroid Lipofuscinoses (Batten Disease)
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Cell and Developmental Biology"
DOI: 10.3389/fcell.2022.812728
Abstract: The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disease, are a family of neurodegenerative diseases that affect all age groups and ethnicities around the globe. At least a dozen NCL subtypes have been… read more here.
Keywords: neuronal ceroid; ceroid lipofuscinoses; lipofuscinoses batten; ceroid ... See more keywords
Top-down and bottom-up propagation of disease in the neuronal ceroid lipofuscinoses
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.1061363
Abstract: Background The Neuronal Ceroid Lipofuscinoses (NCLs) may be considered distinct neurodegenerative disorders with separate underlying molecular causes resulting from monogenetic mutations. An alternative hypothesis is to consider the NCLs as related diseases that share lipofuscin… read more here.
Keywords: disease propagation; disease; ceroid lipofuscinoses; pathology ... See more keywords
Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.866983
Abstract: The neuronal ceroid lipofuscinoses (NCLs) are a group of childhood-onset neurodegenerative lysosomal storage disorders mainly affecting the brain and the retina. In the NCLs, disease-causing mutations in 13 different ceroid lipofuscinoses genes (CLN) have been… read more here.
Keywords: retinal degeneration; ceroid lipofuscinoses; therapy; pathology ... See more keywords
Glial Dysfunction and Its Contribution to the Pathogenesis of the Neuronal Ceroid Lipofuscinoses
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Neurology"
DOI: 10.3389/fneur.2022.886567
Abstract: While significant efforts have been made in developing pre-clinical treatments for the neuronal ceroid lipofuscinoses (NCLs), many challenges still remain to bring children with NCLs a cure. Devising effective therapeutic strategies for the NCLs will… read more here.
Keywords: ceroid lipofuscinoses; glial dysfunction; neuronal ceroid; contribution pathogenesis ... See more keywords
Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses
Sign Up to like & getrecommendations! Published in 2017 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms18050955
Abstract: Neuronal ceroid lipofuscinoses (NCLs) are autosomal recessive progressive encephalopathies caused by mutations in at least 14 different genes. Despite extensive studies performed in different NCL animal models, the molecular mechanisms underlying neurodegeneration in NCLs remain… read more here.
Keywords: cln5 patient; neuronal ceroid; ceroid lipofuscinoses; pluripotent stem ... See more keywords