Results 11 to 20 of about 146 (120)

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   +3 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   +3 more sources

CLN6’s luminal tail-mediated functional interference between CLN6 mutants as a novel pathomechanism for the neuronal ceroid lipofuscinoses

Biomedical Research, 2021
CLN6 (Ceroid Lipofuscinosis, Neuronal, 6) is a 311-amino acid protein spanning the endoplasmic reticulum membrane. Mutations in CLN6 are linked to CLN6 disease, a hereditary neurodegenerative disorder categorized into the neuronal ceroid lipofuscinoses.
Tetsuo Yamazaki, Kana Watanabe
exaly   +4 more sources

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

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   +4 more sources

An Unusual Presentation of Neuronal Ceroid Lipofuscinosis With CLN6 Mutation [PDF]

Caspian Journal of Neurological Sciences, 2023
Background: Neuronal ceroid lipofuscinoses (NCL) is a rare progressive neurodegenerative disorder caused by more than 530 mutations of at least 13 different genes (CLN 1-14).
Shahin Koohmanaee, Seyyedeh Azadeh Hoseini Nouri , Vahid Aminzadeh, Manijeh Tabrizi, Reza Bayat, Fatemeh Kharaee , Maryam Shahrokhi, Afagh Hassanzadeh Rad, Saber Najafi Chakoosari, Setila Dalili, Ehsan Kazemnejad Leili   +10 more
doaj   +2 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   +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   +5 more sources

CLN6‐related continuum phenotype caused by aberrant splicing

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   +4 more sources

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

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   +4 more sources

Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice

Molecular Therapy - Methods and Clinical Development, 2021
Batten disease is a family of rare, fatal, neuropediatric diseases presenting with memory/learning decline, blindness, and loss of motor function. Recently, we reported the use of an AAV9-mediated gene therapy that prevents disease progression in a mouse
Katherine White, Kathrin Meyer, Tyler B Johnson   +2 more
exaly   +3 more sources