Results 111 to 120 of about 2,358 (151)

Targeted long-read RNA sequencing reveals the complexity of CLN3 transcription and the consequences of the most common 1-kb deletion in patients with juvenile CLN3 disease

Minnis CJ, Zhang H, Gustavsson E, Lee J, Anderson C, Gardner E, Schulz A, Nickel M, Arno G, Jurkute N, Webster AR, Gammaldi N, Santorelli FM, Gissen P, Mills P, Ryten M, Mole SE.   +16 more
europepmc   +1 more source

Longitudinal deep multi-omics profiling in a CLN3^Δex7/8 minipig model identifies biomarker signatures of disease. [PDF]

Commun Med (Lond)
Rechtzigel MJ, Lee B, Neville C, Huang T, Díaz R, Campos AR, Motamedchaboki K, Hornburg D, Johnson TB, Swier VJ, Weimer JM, Brudvig JJ.   +11 more
europepmc   +1 more source

CLN3 mediates chloride efflux from lysosomes. [PDF]

Neuron
Wang Y, Li K, Chen W, Chen C, Yong AJH, Zhang X, Tynan-La Fontaine M, Jan YN, Jan LY.   +8 more
europepmc   +1 more source

PPARα and RXRα in the regulation of neuronal ceroid lipofuscinosis genes: implications for Batten disease therapy. [PDF]

NeuroImmune Pharm Ther
Chandra S, Pahan K.
europepmc   +1 more source

Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease

European Journal of Paediatric Neurology, 2022
CLN3 disease (MIM# 204200), the most prevalent of the neuronal ceroid lipofuscinoses (NCL), is an autosomal recessive disorder with juvenile onset characterized by blindness, epilepsy, dementia, psychiatric manifestations, and motor deterioration. Problems related to behavior, emotions and thought are among the main features.
N Darin
exaly   +3 more sources

Repurposing of tamoxifen ameliorates CLN3 and CLN7 disease phenotype [PDF]

EMBO Molecular Medicine, 2021
Abstract Batten diseases (BDs) are a group of lysosomal storage disorders characterized by seizure, visual loss, and cognitive and motor deterioration. We discovered increased levels of globotriaosylceramide (Gb3) in cellular and murine models of CLN3 and CLN7 diseases and used fluorescent‐conjugated bacterial ...
Einar Kleinhans Krogsaeter, Christian Grimm, Scotto Rosato Anna   +2 more
exaly   +11 more sources

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Farnesylation of Batten Disease CLN3 Protein

Neuropediatrics, 1997
The carboxyl terminal of the predicted amino acid sequence of the Batten disease CLN3 gene protein is CQLS. This motif is expected to be a site for farnesylation at the cysteine residue. In order to determine whether this is indeed farnesylated we have carried out the in-vitro prenylation of tetrapeptides CVLS, CAIL and CQLS using a farnesyl ...
R K, Pullarkat, G N, Morris
openaire   +2 more sources

Exogenous Galactosylceramide as Potential Treatment for CLN3 Disease

Annals of Neurology, 2019
ObjectiveCLN3 disease is the commonest of the neuronal ceroid lipofuscinoses, a group of pediatric neurodegenerative disorders. Functions of the CLN3 protein include antiapoptotic properties and facilitating anterograde transport of galactosylceramide from Golgi to lipid rafts.
Sally El‐Sitt, Jihane Soueid, Katia Maalouf, Nadine Makhoul, Jamal Al Ali, Joelle Makoukji, Bilal Asser, Daniel Daou, Hayat Harati, Rose‐Mary Boustany   +9 more
openaire   +2 more sources

Cln3 function is linked to osmoregulation in a Dictyostelium model of Batten disease

Biochimica Et Biophysica Acta - Molecular Basis of Disease, 2018
Mutations in CLN3 cause a juvenile form of neuronal ceroid lipofuscinosis (NCL), commonly known as Batten disease. Currently, there is no cure for NCL and the mechanisms underlying the disease are not well understood. In the social amoeba Dictyostelium discoideum, the CLN3 homolog, Cln3, localizes predominantly to the contractile vacuole (CV) system ...
Robert Huber, Sabateeshan Mathavarajah
exaly   +3 more sources

CLN3, the protein associated with batten disease: Structure, function and localization

Journal of Neuroscience Research, 2005
AbstractBatten disease, an inherited neurodegenerative storage disease affecting children, results from the autosomal recessive inheritance of mutations in Cln3. The function of the CLN3 protein remains unknown. A key to understanding the pathology of this devastating disease will be to elucidate the function of CLN3 at the cellular level.
David Pearce
exaly   +3 more sources