Results 31 to 40 of about 2,358 (151)

Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation

Nature Communications, 2023
Batten disease, one of the most devastating types of neurodegenerative lysosomal storage disorders, is caused by mutations in CLN3. Here, we show that CLN3 is a vesicular trafficking hub connecting the Golgi and lysosome compartments.
Alessia Calcagni’, Leopoldo Staiano, Nicolina Zampelli, Nadia Minopoli, Niculin J. Herz, Giuseppe Di Tullio, Tuong Huynh, Jlenia Monfregola, Alessandra Esposito, Carmine Cirillo, Aleksandar Bajic, Mahla Zahabiyon, Rachel Curnock, Elena Polishchuk, Luke Parkitny, Diego Luis Medina, Nunzia Pastore, Peter J. Cullen, Giancarlo Parenti, Maria Antonietta De Matteis, Paolo Grumati, Andrea Ballabio   +21 more
doaj   +1 more source

A human model of Batten disease shows role of CLN3 in phagocytosis at the photoreceptor–RPE interface

Communications Biology, 2021
CLN3 disease is characterised by childhood-onset vision loss and premature death. Using patient-derived retinal cells, the authors show that CLN3 is required for retinal pigment epithelium (RPE) cell structure, microvilli and phagocytosis of ...
Cynthia Tang, Jimin Han, Sonal Dalvi, Kannan Manian, Lauren Winschel, Stefanie Volland, Celia A. Soto, Chad A. Galloway, Whitney Spencer, Michael Roll, Caroline Milliner, Vera L. Bonilha, Tyler B. Johnson, Lisa Latchney, Jill M. Weimer, Erika F. Augustine, Jonathan W. Mink, Vamsi K. Gullapalli, Mina Chung, David S. Williams, Ruchira Singh   +20 more
doaj   +1 more source

Spectrum of Mutations in the Batten Disease Gene, CLN3

The American Journal of Human Genetics, 1997
Batten disease (juvenile-onset neuronal ceroid lipofuscinosis [JNCL]) is an autosomal recessive condition characterized by accumulation of lipopigments (lipofuscin and ceroid) in neurons and other cell types. The Batten disease gene, CLN3, was recently isolated, and four disease-causing mutations were identified, including a 1.02-kb deletion that is ...
Munroe, Patricia B., Mitchison, Hannah M., O'Rawe, Angela M., Anderson, John W., Boustany, Rose-Mary, Lerner, Terry J., Taschner, Peter E.M., Vos, Nanneke de, Breuning, Martijn H., Gardiner, R. Mark, Mole, Sara E.   +10 more
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A tailored Cln3Q352X mouse model for testing therapeutic interventions in CLN3 Batten disease [PDF]

Scientific Reports, 2020
AbstractCLN3 Batten disease (CLN3 disease) is a pediatric lysosomal storage disorder that presents with progressive blindness, motor and cognitive decline, seizures, and premature death. CLN3 disease results from mutations in CLN3 with the most prevalent mutation, a 966 bp deletion spanning exons 7–8, affecting ~ 75% of patients.
Langin, Logan, Johnson, Tyler B., Kovács, Attila D., Pearce, David A., Weimer, Jill M.   +4 more
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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   +1 more source

The Batten disease gene Cln3 is required for the activation of intestinal stem cell during regeneration via JAK/STAT signaling in Drosophila

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
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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.
Rose-Mary eBoustany, Joelle eMakoukji, Mohamad eRaad, Katia eGenadry, Sally eEl-Sitt, Nadine J. Makhoul, Ehab eSaad Aldin, Eden eNohra, Mark eJabbour, Ajanthah eSangaralingam, Claude eChelala, Robert H. Habib, Fouad eBoulos, Arafat eTfayli   +13 more
doaj   +1 more source

Cardiac magnetic resonance findings in neuronal ceroid lipofuscinosis: A case report

Frontiers in Neurology, 2022
Cardiac magnetic resonance imaging (MRI) is an essential tool for the study of hypertrophic cardiomyopathies (HCM) and for differentiating HCM from conditions with increased ventricular wall thickness, such as cardiac storage diseases.
Giancarlo Todiere, Stefania Della Vecchia, Maria Aurora Morales, Andrea Barison, Ivana Ricca, Alessandra Tessa, Elisa Colombi, Filippo Maria Santorelli   +7 more
doaj   +1 more source

Finding the most appropriate mouse model of juvenile CLN3 (Batten) disease for therapeutic studies: the importance of genetic background and gender

Disease Models & Mechanisms, 2015
Mutations in the CLN3 gene cause a fatal neurodegenerative disorder: juvenile CLN3 disease, also known as juvenile Batten disease. The two most commonly utilized mouse models of juvenile CLN3 disease are Cln3-knockout (Cln3−/−) and Cln3Δex7/8-knock-in ...
Attila D. Kovács, David A. Pearce
doaj   +1 more source

Motor function impairment is an early sign of CLN3 disease

Neurology, 2019
To delineate timing of motor decline in CLN3 disease.Motor function, assessed by the 6-Minute Walk Test (6MWT), was evaluated repeatedly in 15 patients with CLN3 disease, resulting in 65 test results and during one occasion in 2 control cohorts. One control cohort (n = 14) had isolated visual impairment; a second cohort (n = 12) exhibited visual ...
Kuper, Willemijn F. E., van Alfen, Claudia, van Eck, Linda, Huijgen, Barbara C. H., Nieuwenhuis, Edward E. S., van Brussel, Marco, van Hasselt, Peter M.   +6 more
openaire   +3 more sources