Results 151 to 160 of about 1,359 (178)

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

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

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

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

Metabolomic investigation of CLN6 neuronal ceroid lipofuscinosis in affected South Hampshire sheep [PDF]

Journal of Neuroscience Research, 2007
AbstractThe neuronal ceroid lipofuscinoses (NCLs; Batten disease) are a group of fatal inherited neurodegenerative diseases in humans and animals distinguished by a common clinical pathology, characteristic storage body accumulation in cells, and gross brain atrophy.
David Palmer
exaly   +3 more sources

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

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

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

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