Results 31 to 40 of about 2,322 (154)

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

Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease

Neurobiology of Disease, 2006
Batten disease, a lysosomal storage disorder, is caused by mutations in the CLN3 gene. The Cln3-knockout (Cln3−/−) mouse model of the disease exhibits many characteristic pathological features of the human disorder.
Attila D. Kovács, Jill M. Weimer, David A. Pearce   +2 more
doaj   +1 more source

Membrane topology of CLN3, the protein underlying Batten disease [PDF]

FEBS Letters, 2003
Juvenile neuronal ceroid lipofuscinosis, or Batten disease, is an autosomal recessive disorder characterized by progressive loss of motor and cognitive functions, loss of vision, progressively severe seizures, and death. The disease is associated with mutations in the gene CLN3, which encodes a novel 438 amino acid protein, the function of which is ...
Mao, Qinwen, Foster, Brian J, Xia, Haibin, Davidson, Beverly L   +3 more
openaire   +2 more sources

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
openaire   +2 more sources

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
openaire   +2 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   +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
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