Results 61 to 70 of about 1,071 (153)

Cln6 mutants associated with neuronal ceroid lipofuscinosis are degraded in a proteasome-dependent manner [PDF]

Bioscience Reports, 2009
NCLs (neuronal ceroid lipofuscinoses), a group of inherited neurodegenerative lysosomal storage diseases that predominantly affect children, are the result of autosomal recessive mutations within one of the nine cln genes. The wild-type cln gene products are composed of membrane and soluble proteins that localize to the lysosome or the ER (endoplasmic ...
Kristina, Oresic, Britta, Mueller, Domenico, Tortorella   +2 more
openaire   +2 more sources

Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis. [PDF]

PLoS ONE, 2014
The neuronal ceroid-lipofuscinoses (NCL) is a group of neurodegenerative disorders characterized by epilepsy, visual failure, progressive mental and motor deterioration, myoclonus, dementia and reduced life expectancy.
Liliana Catherine Patiño, Rajani Battu, Oscar Ortega-Recalde, Jeyabalan Nallathambi, Venkata Ramana Anandula, Umashankar Renukaradhya, Paul Laissue   +6 more
doaj   +1 more source

Kufs Disease, the Major Adult Form of Neuronal Ceroid Lipofuscinosis, Caused by Mutations in CLN6 [PDF]

The American Journal of Human Genetics, 2011
The molecular basis of Kufs disease is unknown, whereas a series of genes accounting for most of the childhood-onset forms of neuronal ceroid lipofuscinosis (NCL) have been identified. Diagnosis of Kufs disease is difficult because the characteristic lipopigment is largely confined to neurons and can require a brain biopsy or autopsy for final ...
Arsov T, Smith KR, Damiano J, Franceschetti S, Canafoglia L, Bromhead CJ, Andermann E, Vears DF, Cossette P, Rajagopalan S, McDougall A, SOFIA, Vito, Farrell M, Aguglia U, Zini A, Meletti S, Morbin M, Mullen S, Andermann F, Mole SE, Bahlo M, Berkovic SF   +21 more
openaire   +3 more sources

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

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

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

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

Association of Lifestyle‐Induced Weight Loss With Gene Expression in Subcutaneous Adipose Tissue in Metabolic Syndrome

Journal of Diabetes, Volume 17, Issue 4, April 2025.
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.
Silke Zimmermann, Kirsten Roomp, Hans‐Jonas Meyer, Akash Mathew, Manuel Florian Struck, Matthias Blüher, Hugo N. G. Martin, Maria Keller, Kathrin Landgraf, Antje Körner, Anne Hoffmann, Yvonne Böttcher, Kathleen Biemann, Adhideb Ghosh, Christian Wolfrum, Falko Noé, Berend Isermann, Jochen G. Schneider, Ronald Biemann   +18 more
wiley   +1 more source