Results 61 to 70 of about 1,648 (197)

A CLN6-CRMP2-KLC4 complex regulates anterograde ER-derived vesicle trafficking in cortical neurites

bioRxiv, 2021
As neurons establish extensive connections throughout the central nervous system, the transport of cargo along the microtubule network of the axon is crucial for differentiation and homeostasis.
SY Koh, J. Cain, H. Magee, K. White, M. Rechtzigel, B. Meyerink, H. Leppert, DJ Timm, JP Morgan, TB Johnson, B. Grove, R. Khanna, K. Hensley, J. Brudvig, JM Weimer   +14 more
semanticscholar   +1 more source

510 Ultrastructural and Molecular Correlation in a Pediatric Case of CLN6-Associated Neuronal Ceroid Lipofuscinoses (NCLs)

American Journal of Clinical Pathology
Neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, represents a spectrum of inherited neurodegenerative disorders characterized by lysosomal accumulation of cellular ceroid lipofuscin, a waste product of lipids and proteins.
Rui Liang, Brian M Faux, Katie Wiggins-Dohlvik, Yu Zhang, Faqian Li   +4 more
semanticscholar   +1 more source

Mutation c.396dupT in the CLN6 gene – the main cause of neuronal ceroid lipofucinosis in Yakutia

The Thirteenth International Multiconference, 2022
The neuronal ceroid lipofuscinosis (NCLs) are neurodegenerative disorders, mostly of childhood onset. They form a heterogeneous group of lysosomal storage diseases with a prevalence of 1:14000 to 1:1000000 worldwide, depending on the region. The clinical

semanticscholar   +1 more source

A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA [PDF]

, 2006
The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are a group of fatal recessively inherited neurodegenerative diseases of humans and animals characterised by common clinical signs and pathology.
Palmer, DN, Frugier, Tony, Frugier, T, Mitchell, Nadia L., Mitchell, Nadia, Cavanagh, JAL, Cook, RW, Raadsma, Herman W., Raadsma, HW, Houweling, PJ, Tammen, I, Kay, GW, Tammen, Imke, Houweling, Peter J., Kay, Graham W., Palmer, David N., Cavanagh, Julie A.L., Cook, Roger W.   +17 more
core   +1 more source

Higher order visual dysfunction and myoclonic-atonic seizure: an atypical presentation of CLN6 neuronal ceroid lipofuscinosis

BMJ Case Reports, 2022
Neuronal ceroid lipofuscinosis is a rare childhood neurodegenerative disease, classified under the spectrum of progressive myoclonic epilepsy (PME).
Debaleena Mukherjee, Dwaipayan Bhattacharyya, A. Pandit, Souvik Dubey   +3 more
semanticscholar   +1 more source

Investigation of the Batten Disease protein CLN6. [PDF]

, 2006
The neuronal ceroid lipofuscinoses (NCLs, Batten Disease) are a group of lysosomal storage disorders caused by mutations in known and unknown proteins with different cellular locations.
Martin, Y.
core  

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

Epilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola, Marica Rubino, Antonella Riva, Pasquale Striano   +3 more
wiley   +1 more source

Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) Clinical Findings and Molecular Diagnosis: Costa Rica´s Experience

, 2021
Background: Commonly known as Batten disease, the neuronal ceroid lipofuscinoses (NCLs) are a genetically heterogeneous group of rare pediatric lysosomal storage disorders characterized by the intracellular accumulation of autofluorescent material ...
R. Badilla-Porras, A. Echeverri-McCandless, Jill Weiner, A. Ulate-Campos, A. Soto-Rodríguez, A. Gutierrez-mata, L. Hernández-Con, S. Bogantes-Ledezma, A. Balmaceda-Meza, J. Brudvig, A. Sanabría-Castro   +10 more
semanticscholar   +1 more source

A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8

Brain Pathology, EarlyView.
We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren, Carola Hedberg‐Oldfors, Kittichate Visuttijai, Sara Nordström, Hans Goebel, Anders Oldfors   +5 more
wiley   +1 more source

Mutational Screening of (CLN6), (CLN7) and (CLN14) Genes in Egyptian Patients with Neuronal Ceroid Lipofuscinosis.

Azhar International Journal of Pharmaceutical and Medical Sciences
: Neuronal ceroid lipofuscinoses (NCL), the commonest autosomal recessive neurodegenerative disorder, is marked by an accumulation of auto-fluorescent storage material, primarily in neurons.
M. Srour, M. Zaki, Abeer Abd El-Fattah, Asmaa Ali, Mahmoud Isaa, Miral M. Refeat   +5 more
semanticscholar   +1 more source