Results 111 to 120 of about 2,322 (154)

Imaging data on characterization of retinal autofluorescent lesions in a mouse model of juvenile neuronal ceroid lipofuscinosis (CLN3 disease). [PDF]

Data Brief, 2020
Wang QJ, Jung KS, Mohan K, Kleinman ME.
europepmc   +1 more source

Autophagic vacuolar myopathy is a common feature of CLN3 disease. [PDF]

Ann Clin Transl Neurol, 2018
Radke J, Koll R, Gill E, Wiese L, Schulz A, Kohlschütter A, Schuelke M, Hagel C, Stenzel W, Goebel HH.   +9 more
europepmc   +1 more source

Short-Term Administration of Mycophenolate Is Well-Tolerated in CLN3 Disease (Juvenile Neuronal Ceroid Lipofuscinosis). [PDF]

JIMD Rep, 2019
Augustine EF, Beck CA, Adams HR, Defendorf S, Vierhile A, Timm D, Weimer JM, Mink JW, Marshall FJ.   +8 more
europepmc   +1 more source

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

Some of the next articles are maybe not open access.

Related searches:

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.
Jill M Weimer, David A Pearce
exaly   +3 more sources

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