Results 1 to 10 of about 4,149 (123)

Modeling CLN3 Batten disease in astrocytes reveals alterations in mitochondria homeostasis, fatty acid metabolism and oxidative stress response [PDF]

Journal of Biomedical Science
Background CLN3 Batten disease is a severe pediatric neurodegenerative disorder caused by mutations in the CLN3 gene, most commonly a 1 kb deletion encompassing exons 7 and 8.
Mingyi Yang, Wei Wang, María Cámara-Quílez, Borghild Hvesser Farsund, Niklas Nonboe Andersen, Karin Garten, Animesh Sharma, Xiaolin Lin, Ingrid Åmellem, Erlend Ravlo, Jing Ye, Magnar Bjørås, Mirta Mittelstedt Leal de Sousa   +12 more
doaj   +2 more sources

Reversible synaptic deficits in early-stage batten disease [PDF]

Journal of Translational Medicine
Background Juvenile neuronal ceroid lipofuscinosis (JNCL, Batten Disease) is a childhood-onset, neurodegenerative, lysosomal storage disorder caused by mutations in the lysosomal gene CLN3. Progressive cognitive decline is characteristic clinical feature,
Masood Ahmad Wani, Chloe M. Hall, Thomas Mittmann, Benedikt Grünewald, Jakob von Engelhardt   +4 more
doaj   +2 more sources

Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice [PDF]

Acta Neuropathologica Communications
Severe gastrointestinal (GI) symptoms occur in people with CLN3 disease, a neurodegenerative disorder. If left untreated these GI symptoms compromise life quality and may contribute to death.
Ewa A. Ziółkowska, Letitia L. Williams, Matthew J. Jansen, Sophie H. Wang, Elizabeth M. Eultgen, Jaiprakash Sharma, Marco Sardiello, Rebecca P. Bradley, Ineka T. Whiteman, Mark S. Sands, Robert O. Heuckeroth, Jonathan D. Cooper   +11 more
doaj   +2 more sources

Loss of the lysosomal protein CLN3 triggers c-Abl-dependent YAP1 pro-apoptotic signaling [PDF]

EMBO Reports
Batten disease is characterized by early-onset blindness, juvenile dementia and death within the second decade of life. The most common genetic cause are mutations in CLN3, encoding a lysosomal protein.
Neuza Domingues, Alessia Calcagni’, Sofia Freire, Joana Pires, Ricardo Casqueiro, Ivan L Salazar, Niculin Joachim Herz, Tuong Huynh, Katarzyna Wieciorek, Tiago Fleming Outeiro, Henrique Girão, Ira Milosevic, Andrea Ballabio, Nuno Raimundo   +13 more
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Association between CLN3 (Neuronal Ceroid Lipofuscinosis, CLN3 Type) Gene Expression and Clinical Characteristics of Breast Cancer Patients

Frontiers in Oncology, 2015
Breast cancer is the most common cancer in women worldwide. Elucidation of underlying biology and molecular pathways is necessary for improving therapeutic options and clinical outcomes.
Joelle Makoukji, Nadine J Makhoul, Ehab Saad Aldin   +2 more
exaly   +3 more sources

Downregulation of AKT-mediated p27Kip1 phosphorylation with shift to sphingomyelin synthesis in CLN3 disease [PDF]

IBRO Neuroscience Reports
CLN3 disease is a fatal childhood neurodegenerative disorder without drug-modifying therapies. Wild-type CLN3 gene is anti-apoptotic. Previous work proves that CLN3 disease pathogenesis is associated with reduced cell viability/apoptotic cell death and ...
Fatima Bilal, Jihane Soueid, Sara Saab, Nadine Makhoul, Zeinab Hamze, Lara El-Bazzal, Joelle Makoukji, Rose-Mary Boustany   +7 more
doaj   +2 more sources

Exogenous Flupirtine as Potential Treatment for CLN3 Disease

Cells, 2020
CLN3 disease is a fatal neurodegenerative disorder affecting children. Hallmarks include brain atrophy, accelerated neuronal apoptosis, and ceramide elevation.
Joelle Makoukji, Nadine J Makhoul, Angelica V Carmona   +2 more
exaly   +3 more sources

Sex-specific and age-related progression of auditory neurophysiological deficits in the Cln3 mouse model of Batten disease [PDF]

Journal of Neurodevelopmental Disorders
Background CLN3 disease, also known as juvenile Batten disease, is a recessively inherited neurodevelopmental disorder caused by mutations in the CLN3 gene. It represents the most common form of Neuronal Ceroid Lipofuscinoses (NCLs), a group of lysosomal
Yanya Ding, Jingyu Feng, Viollandi Prifti, Grace A. Rico, Alexander G. Solorzano, Hayley E. Chang, Edward G. Freedman, John J. Foxe, Kuan Hong Wang   +8 more
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The Batten disease gene Cln3 is required for the activation of intestinal stem cell during regeneration via JAK/STAT signaling in Drosophila [PDF]

Frontiers in Cell and Developmental Biology
CLN3 mutation causes Juvenile neuronal ceroid lipofuscinosis (JNCL, also known as Batten disease), an early onset neurodegenerative disorder. Patients who suffer from Batten disease often die at an early age.
Zihua Yu, Zihua Yu, Jinhua Yan, Zhiming Liu, Haiyan Wang, Guanzheng Luo, Haiyang Chen   +6 more
doaj   +2 more sources

Gene therapy ameliorates neuromuscular pathology in CLN3 disease [PDF]

Acta Neuropathologica Communications
CLN3 disease is a neuronopathic lysosomal storage disorder that severely impacts the central nervous system (CNS) while also inducing notable peripheral neuromuscular symptoms.
Ewa A. Ziółkowska, Albina Jablonka-Shariff, Letitia L. Williams, Matthew J. Jansen, Sophie H. Wang, Elizabeth M. Eultgen, Matthew D. Wood, Daniel A. Hunter, Jaiprakash Sharma, Marco Sardiello, Robyn Reese, Alan Pestronk, Mark S. Sands, Alison K. Snyder-Warwick, Jonathan D. Cooper   +14 more
doaj   +2 more sources