Results 111 to 120 of about 1,359 (178)

Gene transfer can prevent stereotypical disease development in ovine CLN5 and CLN6 models of NCL

, 2016
Gene therapy represents a promising treatment strategy for the NCLs. Sheep with naturally occurring NCLs are ideal translational subjects for gene therapy studies as they have large complex human-like gyrencephalic brains and recapitulate the key ...
Wellby, MP, Palmer, DN, Mitchell, Nadia, Gray, SJ, Russell, KN, Melzer, TR, Hughes, SM, Assis, AB, Wicky, HE, Cooper, JD, Barrell, GK   +10 more
core  

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

Orbitrap HRMS-Based Comprehensive Metabolite Characterization of Duvelisib in Cross-Species Hepatocytes. [PDF]

Rapid Commun Mass Spectrom
Warkad B, Sharma S, Niguram P, Bisen AC, Paliwal S, Prakash A.   +5 more
europepmc   +1 more source

Progressive MRI brain volume changes in ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinosis. [PDF]

Brain Commun, 2023
Murray SJ, Almuqbel MM, Felton SA, Palmer NJ, Myall DJ, Shoorangiz R, Ella A, Keller M, Palmer DN, Melzer TR, Mitchell NL.   +10 more
europepmc   +1 more source

Adult-Onset Recessive Cerebellar Ataxia and Severe Multisystem Disease-Associated Genes: Hypomorphic Alleles and Clinical Interpretation Pitfalls. [PDF]

Genes (Basel)
Cipriano L, Petillo R, Priolo M, D'Ambrosio P.   +3 more
europepmc   +1 more source

Genetic Heterogeneity Underlying Phenotypes with Early-Onset Cerebellar Atrophy. [PDF]

Int J Mol Sci, 2023
Martínez-Rubio D, Hinarejos I, Argente-Escrig H, Marco-Marín C, Lozano MA, Gorría-Redondo N, Lupo V, Martí-Carrera I, Miranda C, Vázquez-López M, García-Pérez A, Marco-Hernández AV, Tomás-Vila M, Aguilera-Albesa S, Espinós C.   +14 more
europepmc   +1 more source

Metabolomic Insights into Lysosomal Storage Diseases: An Untargeted View. [PDF]

Metabolites
Di Carlo G, Tommolini ML, Frisco A, Spalluto G, Foley D, Zucchelli M, Cufaro MC, Cicalini I, Bucci I, Federici L, De Laurenzi V, Pieragostino D, Rossi C.   +12 more
europepmc   +1 more source

Strategies to treat neurodegeneration in neuronal ceroid lipofuscinosis: a view onto the retina. [PDF]

Neural Regen Res, 2023
Bartsch U.
europepmc   +1 more source

BGC1201: A potent allosteric SHP2 inhibitor with broad antitumor activity in lung, pancreatic, and esophageal cancer xenografts. [PDF]

Pharm Sci Adv
Wang Y, Xia J, Ding H, Li D.
europepmc   +1 more source

Structural adaptability and hydrogen bonding in a dissymmetric pyrimidine thioether ligand. [PDF]

Acta Crystallogr C Struct Chem
Anoliefo K, Brown K, Hiscock LK, Boyle PD, Dawe LN.   +4 more
europepmc   +1 more source