Results 61 to 70 of about 146 (120)
Flupirtine derivatives as potential treatment for the neuronal ceroid lipofuscinoses
Annals of Clinical and Translational Neurology, 2018 Objective Neuronal Ceroid Lipofuscinoses (NCL) are fatal inherited neurodegenerative diseases with established neuronal cell death and increased ceramide levels in brain, hence, a need for disease‐modifying drug candidates, with potential to enhance ...
Joelle Makoukji +7 more
doaj +1 more source
International Journal of Breast Cancer, Volume 2026, Issue 1, 2026.Background Breast cancer (BC) is the most common malignancy among women, with 2.3 million new cases and over 670,000 deaths annually. Despite advances in detection and therapy, relapse, metastasis, and resistance remain significant challenges. Tumor suppressor genes (TSGs) regulate abnormal cell division, whereas oncogenes, which arise from proto ...
Md. Sadikuj Jaman +4 more
wiley +1 more source
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 +2 more
openaire +2 more sources
Proteomics Insights Into Lysosome Biogenesis and Maturation
PROTEOMICS, Volume 25, Issue 21-22, Page 6-24, November 2025.ABSTRACT Lysosomes constitute the main degradative organelle of most eukaryotic cells and are capable of breaking down a wide spectrum of biomolecules, including proteins, lipids, glycans, and DNA/RNA. They play crucial roles in the regulation of cellular homeostasis, acting as metabolic signaling centers for the correlation of nutrient availability ...
Katharina Hirn +2 more
wiley +1 more source
Prevention of Photoreceptor Cell Loss in a Cln6 Mouse Model of Batten Disease Requires CLN6 Gene Transfer to Bipolar Cells [PDF]
Molecular Therapy, 2018 The neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage disorders characterized by general neurodegeneration and premature death. Sight loss is also a major symptom in NCLs, severely affecting the quality of life of patients, but it is not targeted effectively by brain-directed therapies.
Kleine Holthaus, Sophia-Martha +14 more
openaire +4 more sources
Epileptic Disorders, Volume 27, Issue 5, Page 745-802, October 2025.Abstract Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti‐seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates ...
D. Kapoor +7 more
wiley +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 +21 more
openaire +3 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 +6 more
doaj +1 more source
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 +10 more
wiley +1 more source
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 +8 more
doaj +1 more source