Results 71 to 80 of about 1,285 (177)

A missense mutation (c.184C>T) in ovine CLN6 causes neuronal ceroid lipofuscinosis in Merino sheep whereas affected South Hampshire sheep have reduced levels of CLN6 mRNA

, 2006
The neuronal ceroid lipofuscinoses (NCLs, Batten disease) are a group of fatal recessively inherited neurodegenerative diseases of humans and animals characterised by common clinical signs and pathology.
Palmer, DN, Frugier, Tony, Frugier, T, Mitchell, Nadia L., Mitchell, Nadia, Cavanagh, JAL, Cook, RW, Raadsma, Herman W., Raadsma, HW, Houweling, PJ, Tammen, I, Kay, GW, Tammen, Imke, Houweling, Peter J., Kay, Graham W., Palmer, David N., Cavanagh, Julie A.L., Cook, Roger W.   +17 more
core   +1 more source

The Roles of MicroRNAs, Oncogenes, and Tumor Suppressor Gene Molecular Subtypes of Breast Cancer: Therapeutic Potential of Pharmaceutical and Natural Products

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, Md. Maniruzzaman, Md. Rokibul Hasan Bhuiyan, Md Shajedul Haque, Irfan Ahmad   +4 more
wiley   +1 more source

Reduction of metallothionein and synaptic proteins in CLN6 affected brain.

, 2013
(A) Occipital lobe homogenate from control and CLN6 affected sheep was immunoblotted with an antibody for metallothionein I/II and β–tubulin as loading control.
Katja M. Kanninen (144942), Alexandra Grubman (389646), Brett M. Paterson (144950), Anthony R. White (144961), David N. Palmer (389649), Peter J. Crouch (144959), Paul S. Donnelly (144955), James L. Hickey (389648), Irene Volitakis (31156), Imke Tammen (280856), Clare Duncan (110180), Jiang-Li Tan (389647), Jodi Meyerowitz (144932), Sarah J. Parker (144929)   +13 more
core   +1 more source

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, Fadi Saadeh, Karl Albert Mansour, Sally El‐Sitt, Jamal Al Ali, Nihar Kinarivala, Paul C. Trippier, Rose‐Mary Boustany   +7 more
doaj   +1 more source

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

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

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