Results 171 to 180 of about 4,913 (183)

Expression and analysis of CLN2 variants in CHO cells: Q100r represents a polymorphism, and G389E and R447H represent loss-of-function mutations

Human Mutation, 2001
Peter Lobel
exaly  

GENE THERAPY FOR OCULAR MANIFESTATIONS OF CLN2 DISEASE

2022
OHNSMAN CHRISTINA, PAKOLA STEPHEN, VAN EVEREN SHERRI, FALABELLA PAULO, BAILEY ALEXANDER, BUSS NICHOLAS, KIM KWI   +6 more
openaire   +1 more source

Cln2-based phosphodegron tags for the regulation of protein stability

2019
In English: There are several levels of the regulation of protein expression. Protein phosphorylation is a common way of signal transduction in cell signaling pathways and it provides a fast response. Some proteins possess so-called phosphodegron sequences, which being phosphorylated send protein for destruction.
openaire   +1 more source

A potential positive feedback loop controlling CLN1 and CLN2 gene expression at the start of the yeast cell cycle

Cell, 1991
Frederick Cross
exaly  

TPP1 FORMULATIONS AND METHODS FOR TREATING CLN2 DISEASE

2016
LESTER THOMAS W, MOSHASHAEE SAEED, OKHAMAFE AUGUSTUS O, O'NEILL CHARLES A   +3 more
openaire   +9 more sources

Assessment of Safety and Biodistribution of AAVrh.10hCLN2 Following Intracisternal Administration in Nonhuman Primates for the Treatment of CLN2 Batten Disease

Human Gene Therapy
Ronald Crystal, Dolan Sondhi, Rodolfo Ricart Arbona   +2 more
exaly  

Tripeptidyl-peptidase I is apparently the CLN2 protein absent in classical late-infantile neuronal ceroid lipofuscinosis

BBA - Proteins and Proteomics, 1999
Neil D Rawlings, Barrett A J
exaly  

Twenty-Year Survival Analysis of Adeno-Associated Virus Vector Serotype 2-Mediated Gene Therapy to the Central Nervous System for CLN2 Disease

Human Gene Therapy
Ronald Crystal, Dolan Sondhi, Stephen Kaminsky   +2 more
exaly  

Examining Developmental Outcomes of Children Diagnosed With CLN2 Disease

Case Medical Research, 2019
openaire   +1 more source

An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients

Clinical Genetics, 2009
exaly