Results 11 to 20 of about 4,199 (162)

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

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
doaj   +2 more sources

CLN3 mediates chloride efflux from lysosomes. [PDF]

Neuron
Neurodegenerative diseases, which pose significant challenges for effective treatment, often involve risk variants of lysosomal gene products that disrupt lysosomal function, leading to the accumulation of indigestible materials and damage to brain cells. The lysosome is a degradative organelle and a signaling hub that senses nutrient availability. How
Wang Y, Li K, Chen W, Chen C, Yong AJH, Zhang X, Tynan-La Fontaine M, Jan YN, Jan LY.   +8 more
europepmc   +3 more sources

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

TOR-dependent regulation of the yeast homolog of the juvenile Batten Disease-associated gene CLN3 [PDF]

Microbial Cell
The Juvenile form of Batten disease is a neurodegenerative disease with symptoms starting in the first decade and ending in death in the third decade of life. The gene defective in this form of Batten disease, CLN3, is conserved in eukaryotes, suggesting
Vijaykumar Pillalamarri, Samuel W.M. Gatesy, Amanda E. Grassel, Lucienna Wolf, Justin P. Whalley, David M. Mueller   +5 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

Proteomics Insights Into Lysosome Biogenesis and Maturation. [PDF]

Proteomics
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 ...
Hirn K, Fajardo-Callejón S, Winter D.
europepmc   +2 more sources

Prospective pilot safety, feasibility study of an optic-to-audio device for children with CLN3 disease [PDF]

Orphanet Journal of Rare Diseases
Background Low-vision rehabilitative support for children with multiple-disability conditions is underexplored. We conduct a pilot study of an assistive device in children with CLN3 disease, a multisystemic pediatric blindness and neurodegenerative ...
Thuy Tien Nguyen, Andrea Munoz, Kisha Jenkins, Ibukun Agbede, Wadih M. Zein, Laryssa A. Huryn, Brian P. Brooks, Jennifer Chisholm, Julie Christensen, Christopher Zalewski, M. Teresa Magone, Colby Chlebowski, Audrey Thurm, An N. Dang Do   +13 more
doaj   +2 more sources

Age at onset and gene variants predict lifespan and disease duration in childhood neuronal ceroid lipofuscinoses. [PDF]

Dev Med Child Neurol
This original article is commented on by Mole on pages 156–157 of this issue. Abstract Aim To address disease progression in a cohort of patients with childhood‐onset neuronal ceroid lipofuscinosis (NCL), a group of genetic disorders leading to progressive dementia. Method In this retrospective study, selected clinical features (age at onset, at death,
Simonati A, Pezzini F, Nardocci N, CLNet Consortium, Santorelli FM.   +4 more
europepmc   +2 more sources

CLN3 transcript complexity revealed by long-read RNA sequencing analysis [PDF]

BMC Medical Genomics
Background Batten disease is a group of rare inherited neurodegenerative diseases. Juvenile CLN3 disease is the most prevalent type, and the most common pathogenic variant shared by most patients is the “1-kb” deletion which removes two internal coding ...
Hao-Yu Zhang, Christopher Minnis, Emil Gustavsson, Mina Ryten, Sara E. Mole   +4 more
doaj   +2 more sources