Results 121 to 130 of about 1,071 (153)
Some of the next articles are maybe not open access.
CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein
Experimental Cell Research, 2004The 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 +2 more
exaly +3 more sources
Gene Therapy Corrects Brain and Behavioral Pathologies in CLN6-Batten Disease [PDF]
Molecular Therapy, 2019 CLN6-Batten disease, a form of neuronal ceroid lipofuscinosis is a rare lysosomal storage disorder presenting with gradual declines in motor, visual, and cognitive abilities and early death by 12-15 years of age. We developed a self-complementary adeno-associated virus serotype 9 (scAAV9) vector expressing the human CLN6 gene under the control of a ...
Katherine White +2 more
exaly +3 more sources
Identification of CLN6 as a molecular entity of endoplasmic reticulum-driven anti-aggregate activity
Biochemical and Biophysical Research Communications, 2017 αB-crystallin (αBC) is a small heat shock protein. Mutations in the αBC gene are linked to α-crystallinopathy, a hereditary myopathy histologically characterized by intracellular accumulation of protein aggregates. The disease-causing R120G αBC mutant, harboring an arginine-to-glycine replacement at position 120, is an aggregate-prone protein.
Tetsuo Yamazaki
exaly +3 more sources
Modeling CLN6 with IPSC-derived neural cells
Molecular Genetics and Metabolism, 2019Neuronal 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 +3 more
openaire +1 more source
Fine mapping of ovine ceroid lipofuscinosisconfirms orthology with CLN6
European Journal of Paediatric Neurology, 2001The 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, 1999Marked 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
CLN6 disease caused by the same mutation originating in Pakistan has varying pathology
European Journal of Paediatric Neurology, 2013 The neuronal ceroid lipofuscinoses (NCLs), the most common neurodegenerative diseases in children, are characterised by storage of autofluorescent material that has a characteristic ultrastructure. We report two families with variant late infantile NCL, both originating from Pakistan. Probands from both families were homozygous for the same mutation (c.
Rita Guerreiro +2 more
exaly +3 more sources
Mutation of the CLN6 Gene in Teenage-Onset Progressive Myoclonus Epilepsy
Pediatric Neurology, 2012Progressive 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 +5 more
openaire +2 more sources
Analysis of candidate genes in the CLN6 critical regionusing in silico cloning
European Journal of Paediatric Neurology, 2001CLN6, 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 +6 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