Results 131 to 140 of about 1,648 (197)

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

Electroretinography data from ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses

These longitudinal datasets provide a-wave and b-wave electroretinography amplitudes collected from healthy control sheep and sheep affected with CLN5 and CLN6 forms of ovine neuronal ceroid lipofuscinosis (Batten disease)
Palmer, David, Mitchell, Nadia, Barrell, Graham, Russell, Katharina, Wellby, Martin   +4 more
core   +1 more source

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  

Pearls and Oy-sters: Levodopa Responsive Adult NCL (Type B Kufs Disease) Due to CLN6 Mutation.

Neurology, 2021
A. Cherian, D. K.P., N. Paramasivan, Syam Krishnan   +3 more
semanticscholar   +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

Neuropsychiatric manifestations of Kufs disease. [PDF]

Indian J Psychiatry
Vijayan S, Selvaraj A.
europepmc   +1 more source

Lysosomal dysfunction, autophagic defects, and CLN5 accumulation underlie the pathogenesis of KCTD7-mutated neuronal ceroid lipofuscinoses. [PDF]

Autophagy, 2023
Wang Y, Wang H, Wang C.
europepmc   +1 more source

Neuronal Ceroid Lipofuscinosis-Concepts, Classification, and Avenues for Therapy. [PDF]

CNS Neurosci Ther
Zhang Y, Du B, Zou M, Peng B, Rao Y.
europepmc   +1 more source

Neuronal ceroid lipofuscinosis: underlying mechanisms and emerging therapeutic targets. [PDF]

Nat Rev Neurol
Ziółkowska EA, Takahashi K, Dickson PI, Sardiello M, Sands MS, Cooper JD.   +5 more
europepmc   +1 more source