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
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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 +9 more
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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 +13 more
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Evidence of the impact of CLN2 and CLN3 Batten disease on families in the United Kingdom [PDF]
Orphanet Journal of Rare DiseasesBackground Neuronal Ceroid Lipofuscinoses (NCLs), also known as Batten disease, are a group of inherited neurodegenerative disorders that mostly arise in childhood.
Sara E. Mole +14 more
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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 BiologyCLN3 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 +6 more
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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 +6 more
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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’ +21 more
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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 +7 more
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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 +3 more
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TPC2 rescues lysosomal storage in mucolipidosis type IV, Niemann–Pick type C1, and Batten disease [PDF]
EMBO Molecular Medicine, 2022 Lysosomes are cell organelles that degrade macromolecules to recycle their components. If lysosomal degradative function is impaired, e.g., due to mutations in lysosomal enzymes or membrane proteins, lysosomal storage diseases (LSDs) can develop.
Anna Scotto Rosato +29 more
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