Results 1 to 10 of about 2,308 (119)

Exogenous Flupirtine as Potential Treatment for CLN3 Disease [PDF]

Cells, 2020
CLN3 disease is a fatal neurodegenerative disorder affecting children. Hallmarks include brain atrophy, accelerated neuronal apoptosis, and ceramide elevation.
Katia Maalouf, Joelle Makoukji, Sara Saab, Nadine J. Makhoul, Angelica V. Carmona, Nihar Kinarivala, Noël Ghanem, Paul C. Trippier, Rose-Mary Boustany   +8 more
doaj   +4 more sources

Early postnatal administration of an AAV9 gene therapy is safe and efficacious in CLN3 disease [PDF]

Frontiers in Genetics, 2023
CLN3 disease, caused by biallelic mutations in the CLN3 gene, is a rare pediatric neurodegenerative disease that has no cure or disease modifying treatment. The development of effective treatments has been hindered by a lack of etiological knowledge, but
Tyler B. Johnson, Tyler B. Johnson, Jon J. Brudvig, Jon J. Brudvig, Shibi Likhite, Melissa A. Pratt, Katherine A. White, Jacob T. Cain, Jacob T. Cain, Clarissa D. Booth, Derek J. Timm, Samantha S. Davis, Brandon Meyerink, Ricardo Pineda, Cassandra Dennys-Rivers, Brian K. Kaspar, Kathrin Meyer, Jill M. Weimer, Jill M. Weimer, Jill M. Weimer   +19 more
doaj   +2 more sources

Enteric nervous system degeneration in human and murine CLN3 disease, is ameliorated by gene therapy in mice [PDF]

Acta Neuropathologica Communications
Severe gastrointestinal (GI) symptoms occur in people with CLN3 disease, a neurodegenerative disorder. If left untreated these GI symptoms compromise life quality and may contribute to death.
Ewa A. Ziółkowska, Letitia L. Williams, Matthew J. Jansen, Sophie H. Wang, Elizabeth M. Eultgen, Jaiprakash Sharma, Marco Sardiello, Rebecca P. Bradley, Ineka T. Whiteman, Mark S. Sands, Robert O. Heuckeroth, Jonathan D. Cooper   +11 more
doaj   +2 more sources

Quantifying lymphocyte vacuolization serves as a measure of CLN3 disease severity [PDF]

JIMD Reports, 2020
Background The CLN3 disease spectrum ranges from a childhood‐onset neurodegenerative disorder to a retina‐only disease. Given the lack of metabolic disease severity markers, it may be difficult to provide adequate counseling, particularly when novel ...
Willemijn F. E. Kuper, Marlies Oostendorp, Brigitte T. A. van den Broek, Karin van Veghel, Lourens J. P. Nonkes, Edward E. S. Nieuwenhuis, Sabine A. Fuchs, Tineke Veenendaal, Judith Klumperman, Albert Huisman, Stefan Nierkens, Peter M. van Hasselt   +11 more
doaj   +2 more sources

Gene therapy ameliorates neuromuscular pathology in CLN3 disease [PDF]

Acta Neuropathologica Communications
CLN3 disease is a neuronopathic lysosomal storage disorder that severely impacts the central nervous system (CNS) while also inducing notable peripheral neuromuscular symptoms.
Ewa A. Ziółkowska, Albina Jablonka-Shariff, Letitia L. Williams, Matthew J. Jansen, Sophie H. Wang, Elizabeth M. Eultgen, Matthew D. Wood, Daniel A. Hunter, Jaiprakash Sharma, Marco Sardiello, Robyn Reese, Alan Pestronk, Mark S. Sands, Alison K. Snyder-Warwick, Jonathan D. Cooper   +14 more
doaj   +2 more sources

Downregulation of AKT-mediated p27Kip1 phosphorylation with shift to sphingomyelin synthesis in CLN3 disease [PDF]

IBRO Neuroscience Reports
CLN3 disease is a fatal childhood neurodegenerative disorder without drug-modifying therapies. Wild-type CLN3 gene is anti-apoptotic. Previous work proves that CLN3 disease pathogenesis is associated with reduced cell viability/apoptotic cell death and ...
Fatima Bilal, Jihane Soueid, Sara Saab, Nadine Makhoul, Zeinab Hamze, Lara El-Bazzal, Joelle Makoukji, Rose-Mary Boustany   +7 more
doaj   +2 more sources

The parent and family impact of CLN3 disease: an observational survey-based study [PDF]

Orphanet Journal of Rare Diseases
Background CLN3 disease (also known as CLN3 Batten disease or Juvenile Neuronal Ceroid Lipofuscinosis) is a rare pediatric neurodegenerative disorder caused by biallelic mutations in CLN3.
Angela Schulz, Nita Patel, Jon J. Brudvig, Frank Stehr, Jill M. Weimer, Erika F. Augustine   +5 more
doaj   +2 more sources

CLN3 disease disrupts very early postnatal hippocampal maturation [PDF]

Scientific Reports
CLN3 disease or juvenile neuronal ceroid lipofuscinosis (Batten disease), is a progressive, severe, neurodegenerative, lysosomal storage disorder. Previous studies have demonstrated that network-level excitability differences are present in mouse models ...
Jeet B. Singh, Devin M. Burris, Sangeetha Bhuyan, Tegan Thurston, Anna Oschmann, Connor Jankowski, Wenyun Lu, Joshua D. Rabinowitz, Rebecca C. Ahrens-Nicklas   +8 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

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

Orphanet Journal of Rare Diseases
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 ...
Ineka T. Whiteman, Anthony L. Cook, Erika F. Augustine, Aidan D. Bindoff, Alexandra M. Johnson, Heather L. Mason, Jonathan W. Mink, John R. Østergaard, Angela Schulz, Jennifer Vermilion, Amy Vierhile, Heather R. Adams   +11 more
doaj   +2 more sources