Results 1 to 10 of about 5,834 (144)

Altered protein secretion in Batten disease [PDF]

Disease Models & Mechanisms, 2021
The neuronal ceroid lipofuscinoses (NCLs), collectively known as Batten disease, are a group of neurological diseases that affect all ages and ethnicities worldwide.
Robert J. Huber
doaj   +5 more sources

Long-term progression of retinal degeneration in a preclinical model of CLN7 Batten disease as a baseline for testing clinical therapeuticsResearch in context [PDF]

EBioMedicine, 2022
Summary: Background: Batten disease is characterized by cognitive and motor impairment, retinal degeneration, and seizures leading to premature death. Recent studies have shown efficacy for a gene therapy approach for CLN7 Batten disease.
Ashley A. Rowe, Xin Chen, Emily R. Nettesheim, Yacine Issioui, Thomas Dong, Yuhui Hu, Souad Messahel, Saima N. Kayani, Steven J. Gray, Katherine J. Wert   +9 more
doaj   +2 more sources

Transmembrane Batten Disease Proteins Interact With a Shared Network of Vesicle Sorting Proteins, Impacting Their Synaptic Enrichment [PDF]

Frontiers in Neuroscience, 2022
Batten disease is unique among lysosomal storage disorders for the early and profound manifestation in the central nervous system, but little is known regarding potential neuron-specific roles for the disease-associated proteins.
Mitchell J. Rechtzigel, Brandon L. Meyerink, Brandon L. Meyerink, Hannah Leppert, Tyler B. Johnson, Jacob T. Cain, Gavin Ferrandino, Danielle G. May, Kyle J. Roux, Kyle J. Roux, Jon J. Brudvig, Jon J. Brudvig, Jill M. Weimer, Jill M. Weimer   +13 more
doaj   +2 more sources

Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom [PDF]

Orphanet Journal of Rare Diseases
Background Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, are a group of inherited neurodegenerative disorders that mostly arise in childhood.
Sara E. Mole, Paul Gissen, Shannon Nordstrom, Suzanne Wait, Louise Allen, Mathilda Antonini, Liz Brownnutt, Richard Brown, Barbara Cole, Frances Gibbon, Robert H. Henderson, Sarah Kenrick, Zlatko Sisic, Bob Thompson, Joanna Nightingale   +14 more
doaj   +2 more sources

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

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   +2 more sources

Sex-split analysis of pathology and motor-behavioral outcomes in a mouse model of CLN8-Batten disease reveals an increased disease burden and trajectory in female Cln8 mnd mice [PDF]

Orphanet Journal of Rare Diseases, 2022
Background CLN8-Batten disease (CLN8 disease) is a rare neurodegenerative disorder characterized phenotypically by progressive deterioration of motor and cognitive abilities, visual symptoms, epileptic seizures, and premature death.
Andrew D. Holmes, Katherine A. White, Melissa A. Pratt, Tyler B. Johnson, Shibi Likhite, Kathrin Meyer, Jill M. Weimer   +6 more
doaj   +2 more sources

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

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   +2 more sources

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

Neurobiology of Disease, 2008
Humoral autoimmunity against glutamic acid decarboxylase has been described in juvenile Batten disease patients and in the Cln3−/− mouse model. To obtain a more comprehensive understanding of the repertoire of antigens targeted, we examined the ...
Julian A. Castaneda, David A. Pearce
doaj   +3 more sources

Autophagy in the Neuronal Ceroid Lipofuscinoses (Batten Disease) [PDF]

Frontiers in Cell and Developmental Biology, 2022
The neuronal ceroid lipofuscinoses (NCLs), also referred to as Batten disease, are a family of neurodegenerative diseases that affect all age groups and ethnicities around the globe. At least a dozen NCL subtypes have been identified that are each linked
William D. Kim, Morgan L. D. M. Wilson-Smillie, Aruban Thanabalasingam, Stephane Lefrancois, Stephane Lefrancois, Stephane Lefrancois, Susan L. Cotman, Robert J. Huber   +7 more
doaj   +2 more sources

Cellular models of Batten disease.

Biochim Biophys Acta Mol Basis Dis, 2020
The Neuronal Ceroid Lipofuscinoses (NCL), otherwise known as Batten disease, are a group of neurodegenerative diseases caused by mutations in 13 known genes. All except one NCL is autosomal recessive in inheritance, with similar aetiology and characterised by the accumulation of autofluorescent storage material in the lysosomes of cells.
Minnis CJ, Thornton CD, FitzPatrick LM, McKay TR.   +3 more
europepmc   +4 more sources