Results 1 to 10 of about 163,501 (312)
Molecular Brain, 2021 Homer is a postsynaptic scaffold protein, which has long and short isoforms. The long form of Homer consists of an N-terminal target-binding domain and a C-terminal multimerization domain, linking multiple proteins within a complex.
Teiichi Furuichi +6 more
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Nature Communications, 2022 Dravet syndrome is a devastating epileptic encephalopathy caused by Scn1a gene haploinsufficiency. Exploiting a novel knock-in mouse model, here the authors show that restoring Scn1a expression after symptom onset is sufficient to rescue main phenotypic ...
Nicholas Valassina +13 more
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SETD5 haploinsufficiency affects mitochondrial compartment in neural cells
Molecular Autism, 2023 Background Neurodevelopmental disorders (NDDs) are heterogeneous conditions due to alterations of a variety of molecular mechanisms and cell dysfunctions. SETD5 haploinsufficiency leads to NDDs due to chromatin defects.
Mattia Zaghi +12 more
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Rare Does Not Mean Worthless: How Rare Diseases Have Shaped Neurodevelopment Research in the NGS Era
Biomolecules, 2021 The advent of next-generation sequencing (NGS) is heavily changing both the diagnosis of human conditions and basic biological research. It is now possible to dig deep inside the genome of hundreds of thousands or even millions of people and find both ...
Mattia Zaghi +3 more
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Nature Communications, 2021 Schinzel-Giedion syndrome (SGS) is a fatal developmental syndrome characterized by severe intellectual and physical deficits due, at least in part, to early neurodegeneration.
Federica Banfi +16 more
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Frontiers in Aging Neuroscience, 2022 Decline in episodic memory is one of the hallmarks of aging and represents one of the most important health problems facing Western societies. A key structure in episodic memory is the hippocampal formation and the dentate gyrus in particular, as the ...
Muriel Koehl +3 more
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Translational Psychiatry, 2021 The mechanistic target of rapamycin (mTOR) is a ubiquitously expressed kinase that acts through two complexes, mTORC1 and mTORC2, to regulate protein homeostasis, as well as long lasting forms of synaptic and behavioral plasticity. Alteration of the mTOR
Muriel Koehl +4 more
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H3K36 Methylation in Neural Development and Associated Diseases
Frontiers in Genetics, 2020 Post-translational methylation of H3 lysine 36 (H3K36) is an important epigenetic marker that majorly contributes to the functionality of the chromatin.
Mattia Zaghi +3 more
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Frontiers in Cell and Developmental Biology, 2021 TBL1XR1 gene is associated with multiple developmental disorders presenting several neurological aspects. The relative protein is involved in the modulation of important cellular pathways and master regulators of transcriptional output, including nuclear
Giuseppina Mastrototaro +19 more
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Direct Neuronal Reprogramming Reveals Unknown Functions for Known Transcription Factors
Frontiers in Neuroscience, 2019 In recent years, the need to derive sources of specialized cell types to be employed for cell replacement therapies and modeling studies has triggered a fast acceleration of novel cell reprogramming methods.
Gaia Colasante +5 more
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