Results 151 to 160 of about 1,285 (177)

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 ...
Sara E Mole, Gregoire Michaux, Sandra Codlin   +2 more
exaly   +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

Modeling CLN6 with IPSC-derived neural cells

Molecular Genetics and Metabolism, 2019
Neuronal ceroid lipofuscionosis type 6 (CLN6) is a neurodegenerative disease associated with dementia, seizures, and retinopathy. The disorder is due to mutations in the CLN6 gene encoding a resident ER transmembrane protein of unknown function. Similar to other NCLs, the cellular pathology associated with CLN6 includes the abnormal accumulation of ...
Tyler Mark Pierson, Maria Gabriella Otero, David Fabian Nonis, Jaemin Kim   +3 more
openaire   +1 more source

Fine mapping of ovine ceroid lipofuscinosisconfirms orthology with CLN6

European Journal of Paediatric Neurology, 2001
The neuronal ceroid lipofuscinoses (NCLs) are lysosomal storage diseases with severe neurodegenerative pathology. An ovine model (OCL) has well defined parallels with the human disease at a biochemical and pathological level. The gene for OCL is located in the chromosomal region OAR 7q13-15. This region is syntenic with HSA 15q21-23 suggesting that OCL
M F, Broom, C, Zhou
openaire   +2 more sources

Progress toward the Cloning of CLN6, the Gene Underlying a Variant LINCL

Molecular Genetics and Metabolism, 1999
Marked clinical heterogeneity is seen in the late-infantile subtype of NCL (LINCL), complicating genetic analysis. In addition to the classical subtype, encoded by CLN2 on chromosome 11p15.5, several variant subtypes have also been described. In this paper, we report our progress in cloning a variant LINCL gene mapped in a small group of Costa Rican ...
K J, Auger, A, Ajene, T, Lerner
openaire   +2 more sources

Mutation of the CLN6 Gene in Teenage-Onset Progressive Myoclonus Epilepsy

Pediatric Neurology, 2012
Progressive myoclonus epilepsies are severe, intractable, and neurodegenerative. They afflict patients of all ages, but more commonly adolescents, and comprise the main differential diagnosis of common juvenile myoclonic epilepsy. Genetic or minimally invasive pathologic diagnoses are available for many but not all teenage-onset progressive myoclonus ...
Danielle M, Andrade, Tara, Paton, Julie, Turnbull, Christian R, Marshall, Stephen W, Scherer, Berge A, Minassian   +5 more
openaire   +2 more sources

Analysis of candidate genes in the CLN6 critical regionusing in silico cloning

European Journal of Paediatric Neurology, 2001
CLN6, the gene for variant late infantile neuronal ceroid lipofuscinosis, was mapped to a 4 cM region on chromosome 15q22-23. Subsequently the critical region was narrowed to less than 1 cM between microsatellite markers D15S988 and D15S1000 by additional marker typing in an expanded family resource.
J D, Sharp, R B, Wheeler, R A, Schultz, J M, Joslin, S E, Mole, R E, Williams, R M, Gardiner   +6 more
openaire   +2 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   +2 more sources

Kufs disease due to mutation ofCLN6: clinical, pathological and molecular genetic features [PDF]

Brain, 2019
Kufs disease is the major adult form of neuronal ceroid lipofuscinosis, but is rare and difficult to diagnose. Diagnosis was traditionally dependent on the demonstration of characteristic storage material, but distinction from normal age-related ...
Samuel F Berkovic, Karen L Oliver, Laura Canafoglia   +2 more
exaly   +1 more source

Cellular Modeling of CLN6 with IPSC-derived Neurons and Glia

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   +2 more sources