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

Glycerophosphoinositol is Elevated in Blood Samples From pigs, Mice, and CLN3-Affected Individuals

Biomarker Insights, 2022
Introduction: CLN3 Batten disease is a rare pediatric neurodegenerative lysosomal disorder caused by biallelic disease-associated variants in CLN3. Despite decades of intense research, specific biofluid biomarkers of disease status have not been reported,
Jon J Brudvig, Vicki J Swier, Tyler B Johnson, Jacob C Cain, Melissa Pratt, Mitch Rechtzigel, Hannah Leppert, An N Dang Do, Forbes D Porter, Jill M Weimer   +9 more
doaj   +3 more sources

Phenotypic variant of CLN3 mutation

American Journal of Ophthalmology Case Reports, 2022
Purpose: To report a case of bilateral chorioretinal scarring due to CLN3 heterozygous deletion in an asymptomatic patient. Observations: A 63 year-old patient with a history of well-controlled diabetes presented as a referral for diabetic retinopathy ...
Avinash Honasoge, Bradley T. Smith, MD
doaj   +3 more sources

Loss of Cln3 function in the social amoeba Dictyostelium discoideum causes pleiotropic effects that are rescued by human CLN3.

PLoS ONE, 2014
The neuronal ceroid lipofuscinoses (NCL) are a group of inherited, severe neurodegenerative disorders also known as Batten disease. Juvenile NCL (JNCL) is caused by recessive loss-of-function mutations in CLN3, which encodes a transmembrane protein that ...
Robert J Huber, Michael A Myre, Susan L Cotman   +2 more
doaj   +6 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

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

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

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

Loss of CLN3 in microglia leads to impaired lipid metabolism and myelin turnover [PDF]

Communications Biology
Loss-of-function mutations in CLN3 cause juvenile Batten disease, featuring neurodegeneration and early-stage neuroinflammation. How loss of CLN3 function leads to early neuroinflammation is not yet understood.
Seda Yasa, Elisabeth S. Butz, Alessio Colombo, Uma Chandrachud, Luca Montore, Sarah Tschirner, Matthias Prestel, Steven D. Sheridan, Stephan A. Müller, Janos Groh, Stefan F. Lichtenthaler, Sabina Tahirovic, Susan L. Cotman   +12 more
doaj   +2 more sources

Osmotic stress changes the expression and subcellular localization of the Batten disease protein CLN3. [PDF]

PLoS ONE, 2013
Juvenile CLN3 disease (formerly known as juvenile neuronal ceroid lipofuscinosis) is a fatal childhood neurodegenerative disorder caused by mutations in the CLN3 gene.
Amanda Getty, Attila D Kovács, Tímea Lengyel-Nelson, Andrew Cardillo, Caitlin Hof, Chun-Hung Chan, David A Pearce   +6 more
doaj   +1 more source