ArticleStem cell reports2015
Activity and High-Order Effective Connectivity Alterations in Sanfilippo C Patient-Specific Neuronal Networks.
Article in Stem cell reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Drug screen and machine learning predict neuroprotective agents in a preclinical human model of childhood dementia.Nature communications · 2026Article
- Distinct functional networks derived from human induced pluripotent stem cell neuronal activity.Scientific reports · 2026Article
- A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms.NPJ genomic medicine · 2025Article
- Induced Pluripotent Stem Cells for the Treatment of Lysosomal Storage Disorders.Journal of inherited metabolic disease · 2025Review
- Neurological Disease Modeling Using Pluripotent and Multipotent Stem Cells: A Key Step towards Understanding and Treating Mucopolysaccharidoses.Biomedicines · 2023Review
- Generation and characterization of motor neuron progenitors and motor neurons using metachromatic leukodystrophy-induced pluripotent stem cells.Molecular genetics and metabolism reports · 2022Article
- Impaired neural differentiation of MPS IIIA patient induced pluripotent stem cell-derived neural progenitor cells.Molecular genetics and metabolism reports · 2021Article
- Inborn errors of metabolism: Lessons from iPSC models.Reviews in endocrine & metabolic disorders · 2021Review
- Parkinson's disease patient-specific neuronal networks carrying the LRRK2 G2019S mutation unveil early functional alterations that predate neurodegeneration.NPJ Parkinson's disease · 2021Article
- Super-Selective Reconstruction of Causal and Direct Connectivity With Application toFrontiers in neuroscience · 2021Article
- Sanfilippo Syndrome: Molecular Basis, Disease Models and Therapeutic Approaches.International journal of molecular sciences · 2020Review
- Neuronal and Astrocytic Differentiation from Sanfilippo C Syndrome iPSCs for Disease Modeling and Drug Development.Journal of clinical medicine · 2020Article
- Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression.Journal of clinical medicine · 2020Review
- Molecular Bases of Neurodegeneration and Cognitive Decline, the Major Burden of Sanfilippo Disease.Journal of clinical medicine · 2020Review
- Human iPSC-Based Models for the Development of Therapeutics Targeting Neurodegenerative Lysosomal Storage Diseases.Frontiers in molecular biosciences · 2020Review
- Modeling neuronopathic storage diseases with patient-derived culture systems.Neurobiology of disease · 2019Review
- Lysosomal and network alterations in human mucopolysaccharidosis type VII iPSC-derived neurons.Scientific reports · 2018Article
- Human iPSC-based models highlight defective glial and neuronal differentiation from neural progenitor cells in metachromatic leukodystrophy.Cell death & disease · 2018Article
- iPS Cell Cultures from a Gerstmann-Sträussler-Scheinker Patient with the Y218N PRNP Mutation Recapitulate tau Pathology.Molecular neurobiology · 2018Article
- Rewiring of neuronal networks during synaptic silencing.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
12 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Induced pluripotent stem cell (iPSC) technology has been successfully used to recapitulate phenotypic traits of several human diseases in vitro. Patient-specific iPSC-based disease models are also expected to reveal early functional phenotypes, although this remains to be proved. Here, we generated iPSC lines from two patients with Sanfilippo type C syndrome, a lysosomal storage disorder with inheritable progressive neurodegeneration. Mature neurons obtained from patient-specific iPSC lines recapitulated the main known phenotypes of the disease, not present in genetically corrected patient-specific iPSC-derived cultures. Moreover, neuronal networks organized in vitro from mature patient-derived neurons showed early defects in neuronal activity, network-wide degradation, and altered effective connectivity. Our findings establish the importance of iPSC-based technology to identify early functional phenotypes, which can in turn shed light on the pathological mechanisms occurring in Sanfilippo syndrome. This technology also has the potential to provide valuable readouts to screen compounds, which can prevent the onset of neurodegeneration.
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