Results 11 to 20 of about 1,648 (197)

CLN6‐related continuum phenotype caused by aberrant splicing [PDF]

Epilepsia Open
Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life‐expectancy.
Federica Invernizzi, Barbara Castellotti, Chiara Reale, Celeste Panteghini, Isabel Colangelo, Roberta Solazzi, Francesca Ragona, Lucio Giordano, Jessica Galli, Davide Rossi Sebastiano, Gianluca Marucci, Valeria Cuccarini, Giuseppe Didato, Cinzia Gellera, Barbara Garavaglia, Tiziana Granata, Laura Canafoglia   +16 more
doaj   +8 more sources

Clinical and genetic characterization of a cohort of 97 CLN6 patients tested at a single center [PDF]

Orphanet Journal of Rare Diseases, 2022
Background Ceroid lipofuscinoses neuronal 6 (CLN6) disease belongs to the neuronal ceroid lipofuscinoses (NCLs), complex and genetically heterogeneous disorders with wide geographical and phenotypic variation.
Corina-Marcela Rus, Thomas Weissensteiner, Catarina Pereira, Iuliana Susnea, Bright D. Danquah, Galina Morales Torres, Maria Eugenia Rocha, Claudia Cozma, Deepa Saravanakumar, Sumanth Mannepalli, Krishna K. Kandaswamy, Sebastiano Di Bucchianico, Ralf Zimmermann, Arndt Rolfs, Peter Bauer, Christian Beetz   +15 more
doaj   +7 more sources

CLN6 deficiency causes selective changes in the lysosomal protein composition [PDF]

Proteomics, 2021
Abstract Neuronal ceroid lipofuscinoses (NCLs) collectively account for the highest prevalence of inherited neurodegenerative diseases in childhood. This disease group is classified by the deposition of similar autofluorescence storage material in lysosomes that is accompanied by seizures, blindness and premature ...
Marc Sylvester, Markus Damme
exaly   +6 more sources

Tracking sex-dependent differences in a mouse model of CLN6-Batten disease

Orphanet Journal of Rare Diseases, 2019
Background CLN6-Batten disease is a rare neurodevelopmental disorder characterized pathologically by the accumulation of lysosomal storage material, glial activation and neurodegeneration, and phenotypically by loss of vision, motor coordination, and ...
McKayla J. Poppens, Jacob T. Cain, Tyler B. Johnson, Katherine A. White, Samantha S. Davis, Rachel Laufmann, Alexander D. Kloth, Jill M. Weimer   +7 more
doaj   +5 more sources

Neuronal Ceroid Lipofuscinosis in a Mixed-Breed Dog with a Splice Site Variant in <i>CLN6</i>. [PDF]

Genes (Basel)
A 23-month-old neutered male dog of unknown ancestry presented with a history of progressive neurological signs that included anxiety, cognitive impairment, tremors, seizure activity, ataxia, and pronounced visual impairment. The clinical signs were accompanied by global brain atrophy.
Mhlanga-Mutangadura T, Bullock G, Cerda-Gonzalez S, Katz ML.   +3 more
europepmc   +5 more sources

An altered secretome is an early marker of the pathogenesis of CLN6 Batten disease [PDF]

Journal of Neurochemistry, 2021
AbstractNeuronal ceroid lipofuscinoses (NCLs) are a group of inherited childhood neurodegenerative disorders. In addition to the accumulation of auto‐fluorescent storage material in lysosomes, NCLs are largely characterised by region‐specific neuroinflammation that can predict neuron loss.
Hannah Best, Stephanie Hughes, Alison Clare   +2 more
exaly   +6 more sources

Electroretinography data from ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses [PDF]

Data in Brief, 2021
This article presents datasets associated with the research article entitled “Intravitreal gene therapy protects against retinal dysfunction and degeneration in sheep with CLN5 Batten disease” (Murray et al., [1]). The neuronal ceroid lipofuscinoses (NCL;
Katharina N. Russell, Nadia L. Mitchell, Martin P. Wellby, Graham K. Barrell, David N. Palmer   +4 more
doaj   +6 more sources

Neuronal progenitor cells-based metabolomics study reveals dysregulated lipid metabolism and identifies putative biomarkers for CLN6 disease [PDF]

Scientific Reports, 2023
Neuronal ceroid lipofuscinosis 6 (CLN6) is a rare and fatal autosomal recessive disease primarily affecting the nervous system in children. It is caused by a pathogenic mutation in the CLN6 gene for which no therapy is available.
Corina-Marcela Rus, Daniel L. Polla, Sebastiano Di Bucchianico, Steffen Fischer, Jörg Hartkamp, Guido Hartmann, Yunus Alpagu, Claudia Cozma, Ralf Zimmermann, Peter Bauer   +9 more
doaj   +3 more sources

Diagnostic analysis of adult neuronal ceroid lipofuscinosis caused by CLN6 gene mutation: a case report [PDF]

Clinical Parkinsonism & Related Disorders
Neuronal ceroid lipofuscinosis is a rare lysosomal storage disorder that is difficult to distinguish from other diseases with similar clinical symptoms in its early stages.
Yubo Hu, Haochen Sun, Qin Jiang, Juan Wang, Shugang Zhang, Xingjian Lin   +5 more
doaj   +3 more sources

A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer [PDF]

Journal of Clinical Investigation, 2020
Lysosomal enzymes are synthesized in the endoplasmic reticulum (ER) and transferred to the Golgi complex by interaction with the Batten disease protein CLN8 (ceroid lipofuscinosis, neuronal, 8). Here we investigated the relationship of this pathway with CLN6, an ER-associated protein of unknown function that is defective in a different Batten disease ...
Marco Sardiello, Rui Chen, Pengcheng Zhang   +2 more
exaly   +7 more sources