Glycerophosphoinositol is Elevated in Blood Samples From pigs, Mice, and CLN3-Affected Individuals
Biomarker Insights, 2022 Introduction: CLN3 Batten disease is a rare pediatric neurodegenerative lysosomal disorder caused by biallelic disease-associated variants in CLN3. Despite decades of intense research, specific biofluid biomarkers of disease status have not been reported,
Jon J Brudvig +9 more
doaj +1 more source
Altered Cerebellar Short-Term Plasticity but No Change in Postsynaptic AMPA-Type Glutamate Receptors in a Mouse Model of Juvenile Batten Disease [PDF]
, 2018 Juvenile Batten disease is the most common progressive neurodegenerative disorder of childhood. It is associated with mutations in the CLN3 gene, causing loss of function of CLN3 protein and degeneration of cerebellar and retinal neurons.
Cull-Candy, S +4 more
core +1 more source
JAAPA, 2021 ABSTRACT This article describes the 6-year journey to diagnosis of twin girls with varying presentations of the same rare disease. Batten disease is a neurodegenerative disease caused by an autosomal recessive genetic mutation. In patients with juvenile Batten disease, the most common initial symptom is vision loss, and initial testing early ...
openaire +3 more sources
Virus and host factors affecting the clinical outcome of bluetongue virus infection [PDF]
, 2014 Bluetongue is a major infectious disease of ruminants caused by bluetongue virus (BTV), an arbovirus transmitted by Culicoides. Here, we assessed virus and host factors influencing the clinical outcome of BTV infection using a single experimental ...
Caporale, Marco +9 more
core +6 more sources
The Chihuahua dog: A new animal model for neuronal ceroid lipofuscinosis CLN7 disease? [PDF]
, 2016 Neuronal ceroid lipofuscinoses (NCLs) are a group of incurable lysosomal storage disorders characterized by neurodegeneration and accumulation of lipopigments mainly within the neurons. We studied two littermate Chihuahua dogs presenting with progressive
Alroy, Joseph +10 more
core +2 more sources
Electroretinography data from ovine models of CLN5 and CLN6 neuronal ceroid lipofuscinoses
Data in Brief, 2021 This article presents datasets associated with the research article entitled “Intravitreal gene therapy protects against retinal dysfunction and degeneration in sheep with CLN5 Batten disease” (Murray et al., [1]). The neuronal ceroid lipofuscinoses (NCL;
Katharina N. Russell +4 more
doaj +1 more source
The conserved cellular roles of CLN proteins: Novel insights from Dictyostelium discoideum
European Journal of Cell Biology, 2023 The neuronal ceroid lipofuscinoses (NCLs), collectively referred to as Batten disease, are a group of fatal neurodegenerative disorders that primarily affect children. The etiology of Batten disease is linked to mutations in 13 genes that encode distinct
Adam A.N. Remtulla, Robert J. Huber
doaj +1 more source
Mfsd8 Modulates Growth and the Early Stages of Multicellular Development in Dictyostelium discoideum
Frontiers in Cell and Developmental Biology, 2022 MFSD8 is a transmembrane protein that has been reported to transport chloride ions across the lysosomal membrane. Mutations in MFSD8 are associated with a subtype of Batten disease called CLN7 disease.
Shyong Quan Yap +3 more
doaj +1 more source
Cardiac Involvement in Batten Disease
Pediatric Neurology Briefs, 2011 The onset and progression of cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease) are studied in 29 children and adolescents with genetically verified disease at Aarhus University Hospital, Skejby, Denmark.
J Gordon Millichap
doaj +1 more source
Potential Role for Programmed Cell Death in the Formation of an In Vitro Neural Stem Cell Niche [abstract] [PDF]
, 2006 only availableFaculty Mentor: Dr. Mark Kirk, Biological SciencesStem cell therapies have the potential to treat neurodegenerative diseases, such as Batten Disease.
Alinea, Corinne +3 more
core