Results 21 to 30 of about 4,199 (162)

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

A timeline of symptom onset and disease progression in CLN3 disease. [PDF]

Orphanet J Rare Dis
Abstract Background CLN3 disease, or Juvenile Neuronal Ceroid Lipofuscinosis (JNCL), is a rare, genetic neurodegenerative condition, typically manifesting in the first decade of life and progressing in severity, with death typically occurring in early adulthood.
Whiteman IT, Cook AL, Augustine EF, Bindoff AD, Johnson AM, Mason HL, Mink JW, Østergaard JR, Schulz A, Vermilion J, Vierhile A, Adams HR.   +11 more
europepmc   +4 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

Gene correction of the CLN3 c.175G>A variant in patient‐derived induced pluripotent stem cells prevents pathological changes in retinal organoids

Molecular Genetics & Genomic Medicine, 2021
Background Mutations in CLN3 cause Batten disease, however non‐syndromic CLN3 disease, characterized by retinal‐specific degeneration, has been also described.
Xiao Zhang, Dan Zhang, Jennifer A. Thompson, Shang‐Chih Chen, Zhiqin Huang, Luke Jennings, Terri L. McLaren, Tina M. Lamey, John N. De Roach, Fred K. Chen, Samuel McLenachan   +10 more
doaj   +1 more source

Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system. [PDF]

PLoS ONE, 2012
Cln3(Δex7/8) mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death.
John F Staropoli, Larissa Haliw, Sunita Biswas, Lillian Garrett, Sabine M Hölter, Lore Becker, Sergej Skosyrski, Patricia Da Silva-Buttkus, Julia Calzada-Wack, Frauke Neff, Birgit Rathkolb, Jan Rozman, Anja Schrewe, Thure Adler, Oliver Puk, Minxuan Sun, Jack Favor, Ildikó Racz, Raffi Bekeredjian, Dirk H Busch, Jochen Graw, Martin Klingenspor, Thomas Klopstock, Eckhard Wolf, Wolfgang Wurst, Andreas Zimmer, Edith Lopez, Hayat Harati, Eric Hill, Daniela S Krause, Jolene Guide, Ella Dragileva, Evan Gale, Vanessa C Wheeler, Rose-Mary Boustany, Diane E Brown, Sylvie Breton, Klaus Ruether, Valérie Gailus-Durner, Helmut Fuchs, Martin Hrabě de Angelis, Susan L Cotman   +41 more
doaj   +1 more source

A novel interaction of CLN3 with nonmuscle myosin-IIB and defects in cell motility of Cln3−/− cells [PDF]

Experimental Cell Research, 2011
Juvenile neuronal ceroid lipofuscinosis (JNCL) is a pediatric lysosomal storage disorder characterized by accumulation of autofluorescent storage material and neurodegeneration, which result from mutations in CLN3. The function of CLN3, a lysosomal membrane protein, is currently unknown.
Amanda L, Getty, Jared W, Benedict, David A, Pearce   +2 more
openaire   +2 more sources

Recognition and epileptology of protracted CLN3 disease

Epilepsia, 2023
AbstractObjectiveThis study was undertaken to analyze phenotypic features of a cohort of patients with protracted CLN3 disease to improve recognition of the disorder.MethodsWe analyzed phenotypic data of 10 patients from six families with protracted CLN3 disease.
Jillian M. Cameron, John A. Damiano, Bronwyn Grinton, Patrick W. Carney, Penny McKelvie, Peter Silbert, Nicholas Lawn, Ingrid E. Scheffer, Karen L. Oliver, Michael S. Hildebrand, Samuel F. Berkovic   +10 more
openaire   +3 more sources

Identification of a Transactivation Motif in the CLN3 Protein [PDF]

IUBMB Life, 2001
AbstractA transactivation motif has been identified in the neurodegenerative disease protein, CLN3. The C‐terminal domain (residues 394‐438) of CLN3 can function as a transcriptional activator when fused to the DNA binding domain, LexA. A series of deletion and substitution constructs have been generated to identify the essential region for ...
K Y, Leung, N D, Greene, P B, Munroe, S E, Mole   +3 more
openaire   +2 more sources

Timing of cognitive decline in CLN3 disease [PDF]

Journal of Inherited Metabolic Disease, 2018
AbstractBackgroundCLN3 disease is a major cause of childhood neurodegeneration. Onset of visual failure around 6 years of age is thought to precede cognitive deterioration by a few years, but casuistic reports question this paradigm. The aim of our study is to delineate timing of cognitive decline in CLN3 disease.MethodsEarly neurocognitive functioning
Kuper, Willemijn F. E., van Alfen, Claudia, Rigterink, Roeliene H., Fuchs, Sabine A., van Genderen, Maria M., van Hasselt, Peter M.   +5 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