Perioperative care of a patient with neuronal ceroid lipofuscinoses

by Hiromi Kako, David P Martin, Joseph D Tobias
Published 2013-01-01

Selective spatiotemporal patterns of glial activation and neuron loss in the sensory thalamocortical pathways of neuronal ceroid lipofuscinosis 8 mice

by Mervi Kuronen, Anna-Elina Lehesjoki, Anu Jalanko, Jonathan D. Cooper, Outi Kopra
Published 2012-09-01

Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis

by Benedikt Grünewald, Maren D Lange, Christian Werner, Aet O'Leary, Andreas Weishaupt, Sandy Popp, David A Pearce, Heinz Wiendl, Andreas Reif, Hans C Pape, Klaus V Toyka, Claudia Sommer, Christian Geis
Published 2017-11-01

Extracellular Vesicles as Drug Carriers for Enzyme Replacement Therapy to Treat CLN2 Batten Disease: Optimization of Drug Administration Routes

by Matthew J. Haney, Yuling Zhao, Yeon S. Jin, Elena V. Batrakova
Published 2020-05-01

Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses

by Anil B. Mukherjee, Abhilash P. Appu, Tamal Sadhukhan, Sydney Casey, Avisek Mondal, Zhongjian Zhang, Maria B. Bagh
Published 2019-01-01

A Novel Retinal Gene Therapy Strategy for Batten Disease and Beyond

by Maura Schwartz, Alex Campbell, Joseph Caporale, Megan Baird, Isabella Palazzo, Shibi Likhite, Andrew Fischer, Kathrin Meyer
Published 2021-03-01

Aberrant Autophagy Impacts Growth and Multicellular Development in a Dictyostelium Knockout Model of CLN5 Disease

by Meagan D. McLaren, Sabateeshan Mathavarajah, William D. Kim, Shyong Q. Yap, Robert J. Huber
Published 2021-07-01

Impaired autophagy: The collateral damage of lysosomal storage disorders

by Rachel Myerowitz, Rosa Puertollano, Nina Raben
Published 2021-01-01

Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

by Jayesh Sheth, Mehul Mistri, Riddhi Bhavsar, Dhairya Pancholi, Mahesh Kamate, Neerja Gupta, Madhulika Kabra, Sanjiv Mehta, Sheela Nampoothiri, Arpita Thakker, Vivek Jain, Raju Shah, Frenny Sheth
Published 2018-12-01

The Challenges of Living with and Caring for a Child or Children Affected by Neuronal Ceroid Lipofuscinosis Type 2 Disease: In-Depth Family Surveys in the United Kingdom and German...

by Angela Schulz, Mohit Jain, Thomas Butt, Rachel Ballinger, Lina Eliasson, Jake Macey, Tessa Peasgood, Andrew Olaye, Irini-Alexia Terzakis-Snyder, Iris Dyck, Andrea West

Molecular networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum

by Robert J. Huber
Published 2020-05-01

Combined Anti-inflammatory and Neuroprotective Treatments Have the Potential to Impact Disease Phenotypes in Cln3−/− Mice

by Marta A. Tarczyluk-Wells, Christoph Salzlechner, Allison R. Najafi, Ming J. Lim, Ming J. Lim, David Smith, Frances M. Platt, Brenda P. Williams, Jonathan D. Cooper, Jonathan D. Cooper, Jonathan D. Cooper
Published 2019-09-01

Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders

by Kyeongsoon Kim, Hynda K. Kleinman, Hahn-Jun Lee, Kalipada Pahan
Published 2017-06-01

Age-dependent alterations in neuronal activity in the hippocampus and visual cortex in a mouse model of Juvenile Neuronal Ceroid Lipofuscinosis (CLN3)

by Maria Burkovetskaya, Nikolay Karpuk, Tammy Kielian
Published 2017-04-01

Intracranial delivery of AAV9 gene therapy partially prevents retinal degeneration and visual deficits in CLN6-Batten disease mice

by Katherine A. White, Hemanth R. Nelvagal, Timothy A. Poole, Bin Lu, Tyler B. Johnson, Samantha Davis, Melissa A. Pratt, Jon Brudvig, Ana B. Assis, Shibi Likhite, Kathrin Meyer, Brian K. Kaspar, Jonathan D. Cooper, Shaomei Wang, Jill M. Weimer
Published 2021-03-01

Identification of α-fetoprotein as an autoantigen in juvenile Batten disease

by Julian A. Castaneda, David A. Pearce
Published 2008-01-01

Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6)

by Manfred J. Oswald, David N. Palmer, Graham W. Kay, Stephen J.A. Shemilt, Payam Rezaie, Jonathan D. Cooper
Published 2005-10-01

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

by 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
Published 2021-03-01

Neuronal Ceroid Lipofuscinosis in a Domestic Cat Associated with a DNA Sequence Variant That Creates a Premature Stop Codon in CLN6

by Martin L. Katz, Reuben M. Buckley, Vanessa Biegen, Dennis P. O’Brien, Gayle C. Johnson, Wesley C. Warren, Leslie A. Lyons
Published 2020-08-01

A central role for TOR signalling in a yeast model for juvenile CLN3 disease

by Michael E. Bond, Rachel Brown, Charalampos Rallis, Jürg Bähler, Sara E. Mole
Published 2015-11-01