Results 161 to 170 of about 1,359 (178)

Modeling CLN6 with IPSC-derived neurons and glia

Molecular Genetics and Metabolism, 2023
Tyler M. Pierson, Yogesh K. Kushwaha, Hiral Oza, Maria G. Otero   +3 more
openaire   +1 more source

Rapid progression of a walking disability in a 5-year-old boy with a CLN6 mutation

Brain and Development, 2019
Neuronal ceroid lipofuscinoses (NCLs; CLN) are mainly autosomal recessive neurodegenerative disorders characterized by the accumulation of autofluorescent lipopigments in neuronal and other cells. Symptoms include visual disabilities, motor decline, and epilepsy.
Ayumi, Matsumoto, Masako, Nagashima, Kazuhiro, Iwama, Takeshi, Mizuguchi, Shinji, Makino, Takahiro, Ikeda, Kazuhiro, Muramatsu, Naomichi, Matsumoto, Takanori, Yamagata, Hitoshi, Osaka   +9 more
openaire   +2 more sources

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

Novel insight into the compound heterozygosity-driven CLN6 disease pathomechanism

Molecular Genetics and Metabolism, 2022
Yuki Shiro, Tetsuo Yamazaki
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

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