Related references
Note: Only part of the references are listed.Pathomechanisms in the neuronal ceroid lipofuscinoses
Hemanth R. Nelvagal et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2020)
Moving towards a new era of genomics in the neuronal ceroid lipofuscinoses
Elisabeth S. Butz et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2020)
Experimental gene therapies for the NCLs
Wenfei Liu et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2020)
Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease
Bernadette Breiden et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Molecular networking in the neuronal ceroid lipofuscinoses: insights from mammalian models and the social amoeba Dictyostelium discoideum
Robert J. Huber
JOURNAL OF BIOMEDICAL SCIENCE (2020)
Current and Emerging Treatment Strategies for Neuronal Ceroid Lipofuscinoses
Alfried Kohlschuetter et al.
CNS DRUGS (2019)
Analysis of Brain and Cerebrospinal Fluid from Mouse Models of the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Changes in the Lysosomal Proteome
David E. Sleat et al.
MOLECULAR & CELLULAR PROTEOMICS (2019)
Endo-lysosomal proteins and ubiquitin CSF concentrations in Alzheimer's and Parkinson's disease
Simon Sjodin et al.
ALZHEIMERS RESEARCH & THERAPY (2019)
Autophagic- and Lysosomal-Related Biomarkers for Parkinson's Disease: Lights and Shadows
Helena Xicoy et al.
CELLS (2019)
Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis
Sara E. Mole et al.
LANCET NEUROLOGY (2019)
Cln5 is secreted and functions as a glycoside hydrolase in Dictyostelium
Robert J. Huber et al.
CELLULAR SIGNALLING (2018)
Biomarkers for evaluation of mast cell and basophil activation
Kenji Kabashima et al.
IMMUNOLOGICAL REVIEWS (2018)
Study of Intraventricular Cerliponase Alfa for CLN2 Disease
Angela Schulz et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Protein misfolding, aggregation, and conformational strains in neurodegenerative diseases
Claudio Soto et al.
NATURE NEUROSCIENCE (2018)
Untargeted Metabolite Profiling of Cerebrospinal Fluid Uncovers Biomarkers for Severity of Late Infantile Neuronal Ceroid Lipofuscinosis (CLN2, Batten Disease)
Miriam Sindelar et al.
SCIENTIFIC REPORTS (2018)
CLN8 is an endoplasmic reticulum cargo receptor that regulates lysosome biogenesis
Alberto di Ronza et al.
NATURE CELL BIOLOGY (2018)
Extraneuronal pathology in a canine model of CLN2 neuronal ceroid lipofuscinosis after intracerebroventricular gene therapy that delays neurological disease progression
M. L. Katz et al.
GENE THERAPY (2017)
Proteomic Analysis of Brain and Cerebrospinal Fluid from the Three Major Forms of Neuronal Ceroid Lipofuscinosis Reveals Potential Biomarkers
David E. Sleat et al.
JOURNAL OF PROTEOME RESEARCH (2017)
Region and cell-type resolved quantitative proteomic map of the human heart
Sophia Doll et al.
NATURE COMMUNICATIONS (2017)
NCLs and ER: A stressful relationship
Davide Marotta et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2017)
Neuronal ceroid lipofuscinosis with DNAJC5/CSPα mutation has PPT1 pathology and exhibit aberrant protein palmitoylation
Michael X. Henderson et al.
ACTA NEUROPATHOLOGICA (2016)
Intravitreal implantation of TPP1-transduced stem cells delays retinal degeneration in canine CLN2 neuronal ceroid lipofuscinosis
Christopher J. Tracy et al.
EXPERIMENTAL EYE RESEARCH (2016)
Current state of the art for enhancing urine biomarker discovery
Michael Harpole et al.
EXPERT REVIEW OF PROTEOMICS (2016)
The relevance of the storage of subunit c of ATP synthase in different forms and models of Batten disease (NCLs)
David N. Palmer
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2015)
Intrathecal enzyme replacement therapy improves motor function and survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis
Jui-Yun Lu et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Enzyme replacement therapy delays pupillary light reflex deficits in a canine model of late infantile neuronal ceroid lipofuscinosis
Rebecca E. H. Whiting et al.
EXPERIMENTAL EYE RESEARCH (2014)
Enzyme Replacement Therapy Attenuates Disease Progression in a Canine Model of Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2 Disease)
Martin L. Katz et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2014)
Loss of Cln3 Function in the Social Amoeba Dictyostelium discoideum Causes Pleiotropic Effects That Are Rescued by Human CLN3
Robert J. Huber et al.
PLOS ONE (2014)
Mast cell mediators: their differential release and the secretory pathways involved
Tae Chul Moon et al.
FRONTIERS IN IMMUNOLOGY (2014)
NCL disease mechanisms
David N. Palmer et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE (2013)
A zebrafish model of CLN2 disease is deficient in tripeptidyl peptidase 1 and displays progressive neurodegeneration accompanied by a reduction in proliferation
Fahad Mahmood et al.
BRAIN (2013)
Methodology of clinical research in rare diseases: Development of a research program in juvenile neuronal ceroid lipofuscinosis (JNCL) via creation of a patient registry and collaboration with patient advocates
Elisabeth A. de Blieck et al.
CONTEMPORARY CLINICAL TRIALS (2013)
Neurobehavioral Features and Natural History of Juvenile Neuronal Ceroid Lipofuscinosis (Batten Disease)
Heather R. Adams et al.
JOURNAL OF CHILD NEUROLOGY (2013)
A Homozygous Mutation in KCTD7 Links Neuronal Ceroid Lipofuscinosis to the Ubiquitin-Proteasome System
John F. Staropoli et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis
Shinobu Fukumura et al.
DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2012)
Intravenous high-dose enzyme replacement therapy with recombinant palmitoyl-protein thioesterase reduces visceral lysosomal storage and modestly prolongs survival in a preclinical mouse model of infantile neuronal ceroid lipofuscinosis
Jie Hu et al.
MOLECULAR GENETICS AND METABOLISM (2012)
New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses
Ruth E. Williams et al.
NEUROLOGY (2012)
Deletion of Betaine-Homocysteine S-Methyltransferase in Mice Perturbs Choline and 1-Carbon Metabolism, Resulting in Fatty Liver and Hepatocellular Carcinomas
Ya-Wen Teng et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2011)
Cardiac involvement in juvenile neuronal ceroid lipofuscinosis (Batten disease)
J. R. Ostergaard et al.
NEUROLOGY (2011)
Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources
Da Wei Huang et al.
NATURE PROTOCOLS (2009)
Bioinformatics enrichment tools: paths toward the comprehensive functional analysis of large gene lists
Da Wei Huang et al.
NUCLEIC ACIDS RESEARCH (2009)
Activation of non-neuronal cells within the prenatal developing brain of sheep with neuronal ceroid lipofuscinosis
Graham W. Kay et al.
BRAIN PATHOLOGY (2006)
Glial activation spreads from specific cerebral foci and precedes neurodegeneration in presymptomatic ovine neuronal ceroid lipofuscinosis (CLN6)
MJ Oswald et al.
NEUROBIOLOGY OF DISEASE (2005)
AAV2-Mediated ocular gene therapy for infantile neuronal ceroid lipofuscinosis
M Griffey et al.
MOLECULAR THERAPY (2005)
CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein
SE Mole et al.
EXPERIMENTAL CELL RESEARCH (2004)
Lysine 43 is trimethylated in subunit c from bovine mitochondrial ATP synthase and in storage bodies associated with Batten disease
RM Chen et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2004)
Optic nerve degeneration in a murine model of juvenile ceroid lipofuscinosis
RM Sappington et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2003)
Biosynthesis, glycosylation, and enzymatic processing in vivo of human tripeptidyl-peptidase I
AA Golabek et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Physiological substrates for human lysosomal β-hexosaminidase S
ST Hepbildikler et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2002)