Results 61 to 70 of about 5,834 (144)

Protracted CLN3 Batten disease in mice that genetically model an exon-skipping therapeutic approach. [PDF]

Mol Ther Nucleic Acids, 2023
Centa JL, Stratton MP, Pratt MA, Osterlund Oltmanns JR, Wallace DG, Miller SA, Weimer JM, Hastings ML.   +7 more
europepmc   +1 more source

The Batten disease protein CLN3 is important for stress granules dynamics and translational activity. [PDF]

J Biol Chem, 2023
Relton EL, Roth NJ, Yasa S, Kaleem A, Hermey G, Minnis CJ, Mole SE, Shelkovnikova T, Lefrancois S, McCormick PJ, Locker N.   +10 more
europepmc   +1 more source

Efficacy of dual intracerebroventricular and intravitreal CLN5 gene therapy in sheep prompts the first clinical trial to treat CLN5 Batten disease. [PDF]

Front Pharmacol, 2023
Murray SJ, Wellby MP, Barrell GK, Russell KN, Deane AR, Wynyard JR, Gray SJ, Palmer DN, Mitchell NL.   +8 more
europepmc   +1 more source

Magnetic resonance brain volumetry biomarkers of CLN2 Batten disease identified with miniswine model. [PDF]

Sci Rep, 2023
Knoernschild K, Johnson HJ, Schroeder KE, Swier VJ, White KA, Sato TS, Rogers CS, Weimer JM, Sieren JC.   +8 more
europepmc   +1 more source

A Novel Porcine Model of CLN2 Batten Disease that Recapitulates Patient Phenotypes. [PDF]

Neurotherapeutics, 2022
Swier VJ, White KA, Johnson TB, Sieren JC, Johnson HJ, Knoernschild K, Wang X, Rohret FA, Rogers CS, Pearce DA, Brudvig JJ, Weimer JM.   +11 more
europepmc   +1 more source

Gene Therapy and Battens Disease

Internal Medicine: Open Access, 2017
Late Infantile Neuronal Ceroid Lipofuscinoses is an inherited neurodegenerative condition caused by a mutation in the CLN2 gene that codes for an enzyme, tripeptidyl peptidase I (TPP-1). Deficiencies in TPP-1 lead to protein accumulation within lysosomes and subsequent neuronal death, which produce the clinical features of the disease.
openaire   +1 more source

Acidified drinking water improves motor function, prevents tremors and changes disease trajectory in Cln2^R207X mice, a model of late infantile Batten disease. [PDF]

Sci Rep, 2023
Kovács AD, Gonzalez Hernandez JL, Pearce DA.   +2 more
europepmc   +1 more source

Long-term safety and dose escalation of intracerebroventricular CLN5 gene therapy in sheep supports clinical translation for CLN5 Batten disease. [PDF]

Front Genet, 2023
Mitchell NL, Murray SJ, Wellby MP, Barrell GK, Russell KN, Deane AR, Wynyard JR, Palmer MJ, Pulickan A, Prendergast PM, Casy W, Gray SJ, Palmer DN.   +12 more
europepmc   +1 more source

Lysosomal alterations and decreased electrophysiological activity in CLN3 disease patient-derived cortical neurons

Disease Models & Mechanisms, 2022
Sueanne Chear, Sharn Perry, Richard Wilson, Aidan Bindoff, Jana Talbot, Tyson L. Ware, Alexandra Grubman, James C. Vickers, Alice Pébay, Jonathan B. Ruddle, Anna E. King, Alex W. Hewitt, Anthony L. Cook   +12 more
doaj   +1 more source

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

Hum Gene Ther, 2023
De BP, Rosenberg JB, Selvan N, Wilson I, Yusufzai N, Greco A, Kaminsky SM, Heier LA, Ricart Arbona RJ, Miranda IC, Monette S, Nair A, Khanna R, Crystal RG, Sondhi D.   +14 more
europepmc   +1 more source