Results 161 to 170 of about 1,285 (177)

A novel homozygous CLN6 Tyr142Cys variant in a nonconsanguineous family with Kufs disease

Neurological Sciences
Neuronal ceroid lipofuscinoses are a genetically heterogeneous group of inherited lysosomal storage disorders. Kufs disease is the predominant form of neuronal ceroid lipofuscinosis in adults, but it's rare and challenging to diagnose.The proband initially presented with cognitive deterioration and parkinsonian traits.
Boli Chen, Yue Liu, Naiqing Cai, Ning Wang, Kang Yang   +4 more
openaire   +2 more sources

Variant Late Infantile Neuronal Ceroid Lipofuscinosis (CLN6 Gene) in Saudi Arabia

Pediatric Neurology, 2009
Variant late infantile neuronal ceroid lipofuscinosis is one of the multiethnically prevalent types of neuronal ceroid lipofuscinoses. Reported here are three families representing the first cases from Saudi Arabia, one of them having a novel mutation in the CLN6 gene. The CLN6-related literature is reviewed.
Mohammad A, Al-Muhaizea, Zuhair N, Al-Hassnan, Aziza, Chedrawi   +2 more
openaire   +2 more sources

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

Spectrum ofCLN6mutations in variant late infantile neuronal ceroid lipofuscinosis

Human Mutation, 2003
The neuronal ceroid lipofuscinoses (NCLs) are a group of autosomal recessive neurodegenerative diseases of childhood. CLN6, the gene mutated in variant late infantile NCL (vLINCL), was recently cloned. We report the identification of eight further mutations in CLN6 making a total of 18 reported mutations.
Julie D, Sharp, Ruth B, Wheeler, Keith A, Parker, R Mark, Gardiner, Ruth E, Williams, Sara E, Mole   +5 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