Results 161 to 170 of about 1,648 (197)

Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia

bioRxiv
ABSTRACT Neuronal ceroid lipofuscinosis (NCL), type 6 (CLN6) is a neurodegenerative disorder associated with progressive neurodegeneration leading to dementia, seizures, and retinopathy. CLN6 encodes a resident-ER protein involved in trafficking lysosomal proteins to the Golgi ...
Maria Gabriela Otero, Jaemin Kim, Yogesh Kumar Kushwaha, Alex Rajewski, Fabian David Nonis, Chintda Santiskulvong, Serguei I. Bannykh, Hiral Oza, Hafiz Muhammad Umer Farooqi, Madeline Babros, Christina Freeman, Lucie Dupuis, Saadat Mercimek-Andrews, Roberto Mendoza-Londono, Catherine Bresee, David R. Adams, Cynthia J. Tifft, Camilo Toro, Negar Khanlou, William A. Gahl, Noriko Salamon, Tyler Mark Pierson   +21 more
openaire   +3 more sources

Some of the next articles are maybe not open access.

Related searches:

CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein

Experimental Cell Research, 2004
The neuronal ceroid lipofuscinoses (NCLs) are severe inherited neurodegenerative disorders affecting children. In this disease, lysosomes accumulate autofluorescent storage material and there is death of neurons. Five types of NCL are caused by mutations in lysosomal proteins (CTSD, CLN1/PPT1, CLN2/TTPI, CLN3 and CLN5), and one type is caused by ...
Daniel Cutler, Gregoire Michaux, Sara Mole   +2 more
exaly   +3 more sources

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   +3 more sources

Variant late infantile ceroid lipofuscinoses associated with novel mutations in CLN6

Biochemical and Biophysical Research Communications, 2009
The neuronal ceroid lipofuscinoses (NCL) are heterogeneous neurodegenerative disorders with typical autofluorescence material stored in tissues. Ten clinical NCL forms and eight causative genes are known. Mutations in CLN6 have been reported in roughly 30 patients, mostly in association with the variant late-infantile NCL (v-LINCL) phenotype.
Cannelli N., Garavaglia B., SIMONATI, Alessandro, Aiello C., Barzaghi C., PEZZINI, Francesco, Cilio M. R., Biancheri R., Morbin M., DALLA BERNARDINA, Bernardo, Granata T., Tessa A., Invernizzi F., Pessagno A., Boldrini R., Zibordi F, Grazian L., Claps D., Carrozzo R., Mole S. E., Nardocci N., Santorelli F. M.   +21 more
openaire   +4 more sources

Juvenile-Onset Kufs Disease in a Chinese Consanguineous Family due to CLN6 Mutation

Neurodegenerative Diseases, 2021
<b><i>Objective:</i></b> The aim of this study was to identify the genetic cause of two cases of Kufs disease in the same family. The two affected individuals exhibited different levels of severity under magnetic resonance imaging (MRI).
Weimin Jia, Yalin Luo, Jiuxiang Wang, Yue Yang, Wenming Yang, Xianqin Zhang   +5 more
openaire   +3 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   +2 more sources

Novel insight into the compound heterozygosity-driven CLN6 disease pathomechanism

Molecular Genetics and Metabolism, 2022
Yuki Shiro, Tetsuo Yamazaki
openaire   +2 more sources