Results 81 to 90 of about 1,071 (153)

Autosomal Recessive Cerebellar Ataxias: Translating Genes to Therapies

Annals of Neurology, Volume 98, Issue 3, Page 448-470, September 2025.
[Color figure can be viewed at www.annalsofneurology.org] Autosomal recessive cerebellar ataxias are disabling neurodegenerative genetic conditions affecting balance and coordination. Advancements in genomic testing have improved diagnosis, leading to a new focus on the development of targeted precision therapeutics addressing cellular, biochemical ...
Brent L. Fogel, Thomas Klopstock, David R. Lynch, Francesca Maltecca, Mayank Verma, Berge A. Minassian, Frances M. Platt, Débora Farina Gonçalves, Hélène Puccio, Andreas Roos, Matthis Synofzik   +10 more
wiley   +1 more source

Next-Generation Sequencing Analysis Reveals Novel Pathogenic Variants in Four Chinese Siblings With Late-Infantile Neuronal Ceroid Lipofuscinosis

Frontiers in Genetics, 2019
Neuronal Ceroid Lipofuscinoses (NCLs) are progressive degenerative diseases mainly affect brain and retina. They are characterized by accumulation of autofluorescent storage material, mitochondrial ATPase subunit C, or sphingolipid activator proteins A ...
Xiao-Tun Ren, Xiao-Hui Wang, Chang-Hong Ding, Xiang Shen, Hao Zhang, Wei-Hua Zhang, Jiu-Wei Li, Chang-Hong Ren, Fang Fang   +8 more
doaj   +1 more source

FGF Signaling Promotes Lysosome Biogenesis in Chondrocytes via the Mannose Phosphate Receptor Pathway

Traffic, Volume 26, Issue 7-9, July/September 2025.
FGF signaling regulates lysosomal homeostasis in RCS chondrocytes by inducing TFEB/TFE3 nuclear translocation and activation. This promotes the expression of lysosomal genes and mannose 6‐phosphate receptors, enhancing lysosome biogenesis and lysosomal hydrolases delivery.
Laura Cinque, Maria Iavazzo, Gennaro Di Bonito, Elena Polishchuk, Rossella De Cegli, Carmine Settembre   +5 more
wiley   +1 more source

Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8 mnd mice

Orphanet Journal of Rare Diseases, 2022
Background CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and premature death.
Andrew D. Holmes, Katherine A. White, Melissa A. Pratt, Tyler B. Johnson, Shibi Likhite, Kathrin Meyer, Jill M. Weimer   +6 more
doaj   +1 more source

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

, 2023
Abstract Neuronal ceroid lipofuscinoses (NCLs) also known as Batten disease jointly account the highest incidences of hereditary neurodegenerative disease in childhood. This disease is mostly presented by vision loss, ataxia, premature mortality in later stages of disease and epileptic seizures.
Fozhan Saboori, Nazanin Ghaderi Nejad
openaire   +1 more source

Enhanced expression of manganese-dependent superoxide dismutase in human and sheep CLN6 tissues [PDF]

Biochemical Journal, 2003
Neuronal ceroid lipofuscinosis type 6 and its sheep model (OCL6) are lysosomal storage disorders caused by mutations in the CLN6 gene product of unknown function. It has been proposed that mitochondrial dysfunction, including defects in mitochondrial protein degradation, organelle enlargement and functional changes in oxidative phosphorylation, may ...
Heine, C, Tyynela, J, Cooper, J D, Palmer, D N, Elleder, M, Kohlschutter, A, Braulke, T   +6 more
openaire   +3 more sources

The cerebellum in epilepsy

Epilepsia, Volume 66, Issue 6, Page 1773-1792, June 2025.
Abstract The cerebellum, a subcortical structure, is traditionally linked to sensorimotor integration and coordination, although its role in cognition and affective behavior, as well as epilepsy, is increasingly recognized. Cerebellar dysfunction in patients with epilepsy can result from genetic disorders, antiseizure medications, seizures, and seizure‐
Christopher Elder, Rebecca Kerestes, Puneet Opal, Maria Marchese, Orrin Devinsky   +4 more
wiley   +1 more source

Rapid and Progressive Regional Brain Atrophy in CLN6 Batten Disease Affected Sheep Measured with Longitudinal Magnetic Resonance Imaging.

PLoS ONE, 2015
Variant late-infantile Batten disease is a neuronal ceroid lipofuscinosis caused by mutations in CLN6. It is a recessive genetic lysosomal storage disease characterised by progressive neurodegeneration.
Stephen J Sawiak, Sunthara Rajan Perumal, Skye R Rudiger, Loren Matthews, Nadia L Mitchell, Clive J McLaughlan, C Simon Bawden, David N Palmer, Timothy Kuchel, A Jennifer Morton   +9 more
doaj   +1 more source

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses

JIMD Reports, 2019
Background Neuronal ceroid lipofuscinoses are neurodegenerative disorders. To investigate the diagnostic yield of direct Sanger sequencing of the CLN genes, we reviewed Molecular Genetics Laboratory Database for molecular genetic test results of the CLN ...
Abdulhakim Jilani, Diana Matviychuk, Susan Blaser, Sarah Dyack, Jean Mathieu, Asuri N. Prasad, Chitra Prasad, Lianna Kyriakopoulou, Saadet Mercimek‐Andrews   +8 more
doaj   +1 more source

Neuronal ceroid lipofuscinosis in the Russian population: Two novel mutations and the prevalence of heterozygous carriers

Molecular Genetics & Genomic Medicine, 2020
Background Neuronal ceroid lipofuscinoses (NCLs) are a group of neurodegenerative disorders characterized by an accumulation of lipofuscin in the body's tissues.
Anastasiya A. Kozina, Elena G. Okuneva, Natalia V. Baryshnikova, Olga B. Kondakova, Ekaterina A. Nikolaeva, Inessa D. Fedoniuk, Svetlana V. Mikhailova, Anna Y. Krasnenko, Ivan F. Stetsenko, Nikolay A. Plotnikov, Olesia I. Klimchuk, Yaroslav V. Popov, Ekaterina I. Surkova, Peter A. Shatalov, Alexander S. Rakitko, Valery V. Ilinsky   +15 more
doaj   +1 more source