Results 51 to 60 of about 1,071 (153)

Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6

G3: Genes, Genomes, Genetics, 2020
A neutered male domestic medium-haired cat presented at a veterinary neurology clinic at 20 months of age due to progressive neurological signs that included visual impairment, focal myoclonus, and frequent severe generalized seizures that were ...
Martin L. Katz, Reuben M. Buckley, Vanessa Biegen, Dennis P. O’Brien, Gayle C. Johnson, Wesley C. Warren, Leslie A. Lyons   +6 more
doaj   +1 more source

Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica’s experience

Orphanet Journal of Rare Diseases, 2022
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 (known ...
R. Badilla-Porras, A. Echeverri-McCandless, J. M. Weimer, A. Ulate-Campos, A. Soto-Rodríguez, A. Gutiérrez-Mata, L. Hernández-Con, S. Bogantes-Ledezma, A. Balmaceda-Meza, J. Brudvig, A. Sanabria-Castro   +10 more
doaj   +1 more source

Urine proteomics analysis of patients with neuronal ceroid lipofuscinoses

iScience, 2021
Summary: The neuronal ceroid lipofuscinoses (NCL) are a group of 13 rare neurodegenerative disorders characterized by accumulation of cellular storage bodies.
Katharina Iwan, Robert Clayton, Philippa Mills, Barbara Csanyi, Paul Gissen, Sara E. Mole, David N. Palmer, Kevin Mills, Wendy E. Heywood   +8 more
doaj   +1 more source

Identification of a novel mutation of rare CLN6 case and computation protein structure

European Journal of Biological Research, 2023
Neuronal ceroid lipofuscinoses (NCLs), also known as Batten disease, jointly account for the highest incidences of hereditary neurodegenerative disease in childhood.
Fozhan Saboori, Nazanin Ghaderi Nejad, Naghmeh Gholipour   +2 more
doaj  

Transmembrane Batten Disease Proteins Interact With a Shared Network of Vesicle Sorting Proteins, Impacting Their Synaptic Enrichment

Frontiers in Neuroscience, 2022
Batten disease is unique among lysosomal storage disorders for the early and profound manifestation in the central nervous system, but little is known regarding potential neuron-specific roles for the disease-associated proteins.
Mitchell J. Rechtzigel, Brandon L. Meyerink, Brandon L. Meyerink, Hannah Leppert, Tyler B. Johnson, Jacob T. Cain, Gavin Ferrandino, Danielle G. May, Kyle J. Roux, Kyle J. Roux, Jon J. Brudvig, Jon J. Brudvig, Jill M. Weimer, Jill M. Weimer   +13 more
doaj   +1 more source

Experimental Therapeutic Approaches for the Treatment of Retinal Pathology in Neuronal Ceroid Lipofuscinoses

Frontiers in Neurology, 2022
The neuronal ceroid lipofuscinoses (NCLs) are a group of childhood-onset neurodegenerative lysosomal storage disorders mainly affecting the brain and the retina.
Udo Bartsch, Stephan Storch
doaj   +1 more source

Association of Lifestyle-Induced Weight Loss With Gene Expression in Subcutaneous Adipose Tissue in Metabolic Syndrome. [PDF]

J Diabetes
ABSTRACT Aims Lifestyle‐induced weight loss (LIWL) is considered an effective therapy for the treatment of metabolic syndrome (MetS). The role of differentially expressed genes (DEGs) in adipose tissue function and in the success of LIWL in MetS is still unclear.
Zimmermann S, Roomp K, Meyer HJ, Mathew A, Struck MF, Blüher M, Martin HNG, Keller M, Landgraf K, Körner A, Hoffmann A, Böttcher Y, Biemann K, Ghosh A, Wolfrum C, Noé F, Isermann B, Schneider JG, Biemann R.   +18 more
europepmc   +2 more sources

Characterization of neuropathology in ovine CLN5 and CLN6 neuronal ceroid lipofuscinoses (Batten disease)

Developmental Neurobiology, 2023
AbstractSheep with naturally occurring CLN5 and CLN6 forms of neuronal ceroid lipofuscinoses (Batten disease) share the key clinical features of the human disease and represent an ideal model system in which the clinical efficacy of gene therapies is developed and test.
Nadia L. Mitchell, Katharina N. Russell, Graham K. Barrell, Imke Tammen, David N. Palmer   +4 more
openaire   +3 more sources

A Missense Mutation in Canine CLN6 in an Australian Shepherd with Neuronal Ceroid Lipofuscinosis [PDF]

BioMed Research International, 2010
The childhood neuronal ceroid lipofuscinoses (NCLs) are inherited neurodegenerative diseases that are progressive and ultimately fatal. An Australian Shepherd that exhibited a progressive neurological disorder with signs similar to human NCL was evaluated.
Katz, Martin L., Farias, Fabiana H., Sanders, Douglas N., Zeng, Rong, Khan, Shahnawaz, Johnson, Gary S., O'Brien, Dennis P.   +6 more
openaire   +2 more sources

Moyamoya and progressive myoclonic epilepsy secondary to CLN6 bi-allelic mutations – A previously unreported association

Epilepsy & Behavior Reports, 2020
The neuronal ceroid lipofuscinoses (NCL) are a collection of lysosomal storage diseases characterised by the accumulation of characteristic inclusions containing lipofuscin in various tissues of the body and are one of the causes of progressive myoclonic
Jamie Talbot, Priyanka Singh, Clinda Puvirajasinghe, Sanjay M. Sisodiya, Fergus Rugg-Gunn   +4 more
doaj   +1 more source