Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway
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hiPSC-derived iMSCs: NextGen MSCs as an advanced therapeutically active cell resource for regenerative medicineNeurodegeneration and Epilepsy in a Zebrafish Model of CLN3 Disease (Batten Disease)Utility of Induced Pluripotent Stem Cells for the Study and Treatment of Genetic Diseases: Focus on Childhood Neurological DisordersCLN3 deficient cells display defects in the ARF1-Cdc42 pathway and actin-dependent eventsNovel small molecules potentiate premature termination codon readthrough by aminoglycosidesInduced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses.Safety and potential efficacy of gemfibrozil as a supportive treatment for children with late infantile neuronal ceroid lipofuscinosis and other lipid storage disorders.Induced pluripotent stem cell models of lysosomal storage disorders.Ataluren treatment of patients with nonsense mutation dystrophinopathy.Stem cells on the brain: modeling neurodevelopmental and neurodegenerative diseases using human induced pluripotent stem cells.Probing disorders of the nervous system using reprogramming approaches.Using Stem Cells to Model Diseases of the Outer RetinaProgress in the Development of Small Molecule Therapeutics for the Treatment of Neuronal Ceroid Lipofuscinoses (NCLs).Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function.Vision loss in juvenile neuronal ceroid lipofuscinosis (CLN3 disease)FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons.Disease models for the development of therapies for lysosomal storage diseases.Future perspectives: Moving towards NCL treatments.Using induced pluripotent stem cells derived neurons to model brain diseases.Pluripotent stem cells in disease modelling and drug discovery.Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs).Human-Induced Pluripotent Stem Cell-Based Modeling of Cardiac Storage Disorders.Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases.Aberrant adhesion impacts early development in a Dictyostelium model for juvenile neuronal ceroid lipofuscinosis.Melanoma-Derived iPCCs Show Differential Tumorigenicity and Therapy Response.C9ORF72 interaction with cofilin modulates actin dynamics in motor neurons.Lack of specificity of antibodies raised against CLN3, the lysosomal/endosomal transmembrane protein mutated in juvenile Batten disease.Defective synaptic transmission causes disease signs in a mouse model of juvenile neuronal ceroid lipofuscinosis.Dysregulation of autophagy as a common mechanism in lysosomal storage diseases.A sparse differential clustering algorithm for tracing cell type changes via single-cell RNA-sequencing data.Impaired DNA damage response signaling by FUS-NLS mutations leads to neurodegeneration and FUS aggregate formation.Role of the Lysosomal Membrane Protein, CLN3, in the Regulation of Cathepsin D Activity.Neural stem cells for disease modeling and evaluation of therapeutics for infantile (CLN1/PPT1) and late infantile (CLN2/TPP1) neuronal ceroid lipofuscinoses.Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy.Immunomodulation with minocycline rescues retinal degeneration in juvenile neuronal ceroid lipofuscinosis mice highly susceptible to light damage
P2860
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P1343
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P2860
Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway
description
2013 nî lūn-bûn
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2013年の論文
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2013年学术文章
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2013年学术文章
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2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
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name
Human iPSC models of neuronal ...... tions on the endocytic pathway
@en
Human iPSC models of neuronal ...... ions on the endocytic pathway.
@nl
type
label
Human iPSC models of neuronal ...... tions on the endocytic pathway
@en
Human iPSC models of neuronal ...... ions on the endocytic pathway.
@nl
prefLabel
Human iPSC models of neuronal ...... tions on the endocytic pathway
@en
Human iPSC models of neuronal ...... ions on the endocytic pathway.
@nl
P2093
P2860
P50
P356
P1476
Human iPSC models of neuronal ...... tions on the endocytic pathway
@en
P2093
Alexander Storch
Alexandra M Simas
Andreas Hermann
Diane Lucente
Dolan Sondhi
James F Gusella
John F Staropoli
Katherine B Sims
Kendrick A Goss
Larissa Haliw
P2860
P304
P356
10.1093/HMG/DDT596
P577
2013-11-23T00:00:00Z