Results 181 to 190 of about 1,648 (197)

Identification of a novel mutation in the CLN6 gene (CLN6) in South Hampshire sheep affected with Neuronal Ceroid Lipofuscinosis

2014
Neuronal ceroid lipofuscinoses (NCL/Batten disease) are a group of fatal inherited neurodegenerative diseases that occur in many species including humans, sheep, dogs and cattle. Typical NCL symptoms include progressive loss of vision, regression of mental and motor development, epileptic seizures and premature death.
openaire   +1 more source

Human induced pluripotent stem cell models for CLN6

Molecular Genetics and Metabolism, 2021
Tyler Mark Pierson, Yogesh K. Kushwaha, Maria Gabriela Otero, Phillip J. Kenny, Fabian David Nonis, Jaemin Kim   +5 more
openaire   +1 more source

CLN6

2011
J. Alroy, T. Braulke, I.A. Cismondi, J.D. Cooper, D. Creegan, M. Elleder, C. Kitzmüller, R. Kohan, A. Kohlschütter, S.E Mole, I. Noher de Halac, R. Pfannl, A. Quitsch, A. Schulz   +13 more
openaire   +1 more source

Implications of graded reductions in CLN6’s anti-aggregate activity for the development of the neuronal ceroid lipofuscinoses

Biochemical and Biophysical Research Communications, 2020
Tetsuo Yamazaki
exaly  

Modeling CLN6 with patient-derived IPS cells

Molecular Genetics and Metabolism, 2017
openaire   +1 more source

CTSD integrity in the endoplasmic reticulum is required for CLN6's anti-aggregate activity

Molecular Genetics and Metabolism
Y. Shiro, Tetsuo Yamazaki
semanticscholar   +1 more source

Single-dose AAV9-CLN6 gene transfer slows the decline in motor and language function in variant late infantile neuronal ceroid lipofuscinosis 6: Interim results from phase 1/2 trial

, 2021
E. Reyes, Shawn C. Aylward, K. Meyer, L. Lehwald, Charles M. Albright, David L. Rogers, J. Castelli, Hai Jiang, M. Goldman, V. Jain, Alberto di Ronza, J. A. Barth   +11 more
semanticscholar   +1 more source

Pathogenic mutations cause rapid degradation of lysosomal storage disease-related membrane protein CLN6

Human Mutation, 2010
Thomas Braulke, Sara Mole
exaly  

Novel mutations in the CLN6 gene causing a variant late infantile neuronal ceroid lipofuscinosis

Human Mutation, 2003
Carla Andreia Teixeira, CARLOS Bessa
exaly  

Spectrum ofCLN6mutations in variant late infantile neuronal ceroid lipofuscinosis

Human Mutation, 2003
Sara Mole
exaly