Results 11 to 20 of about 142,373 (148)

The physiological role of Homer2a and its novel short isoform, Homer2e, in NMDA receptor-mediated apoptosis in cerebellar granule cells

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, Yuko Muto, Tetsushi Sadakata, Yumi Sato, Kanehiro Hayashi, Yoko Shiraishi-Yamaguchi, Yo Shinoda   +6 more
doaj   +1 more source

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, Federica Banfi, Edoardo Bellini, Alessandro Sessa   +3 more
doaj   +1 more source

Scn1a gene reactivation after symptom onset rescues pathological phenotypes in a mouse model of Dravet syndrome

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, Simone Brusco, Alessia Salamone, Linda Serra, Mirko Luoni, Serena Giannelli, Simone Bido, Luca Massimino, Federica Ungaro, Pietro Giuseppe Mazzara, Patrizia D’Adamo, Gabriele Lignani, Vania Broccoli, Gaia Colasante   +13 more
doaj   +1 more source

SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome

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, Alicia Rubio, Mattia Zaghi, Luca Massimino, Giulia Fagnocchi, Edoardo Bellini, Mirko Luoni, Cinzia Cancellieri, Anna Bagliani, Chiara Di Resta, Camilla Maffezzini, Angelo Ianielli, Maurizio Ferrari, Rocco Piazza, Luca Mologni, Vania Broccoli, Alessandro Sessa   +16 more
doaj   +1 more source

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, Fabiana Longo, Luca Massimino, Alicia Rubio, Simone Bido, Pietro Giuseppe Mazzara, Edoardo Bellini, Federica Banfi, Paola Podini, Francesca Maltecca, Alessio Zippo, Vania Broccoli, Alessandro Sessa   +12 more
doaj   +1 more source

Vangl2, a Core Component of the WNT/PCP Pathway, Regulates Adult Hippocampal Neurogenesis and Age-Related Decline in Cognitive Flexibility

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, Elodie Ladevèze, Mireille Montcouquiol, Djoher Nora Abrous   +3 more
doaj   +1 more source

Inhibition of mTOR signaling by genetic removal of p70 S6 kinase 1 increases anxiety-like behavior in mice

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, Elodie Ladevèze, Caterina Catania, Daniela Cota, Djoher Nora Abrous   +4 more
doaj   +1 more source

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, Vania Broccoli, Vania Broccoli, Alessandro Sessa   +3 more
doaj   +1 more source

How hunger guides new brain cells to their destination. [PDF]

Elife
Blood flow and a hormone called ghrelin help new neurons travel to where they are meant to be in the brain of adult mice.
Nian FS, Nguyen L.
europepmc   +2 more sources

Association of KCNJ6 rs2070995 and methadone response for pain management in advanced cancer at end-of-life

Scientific Reports, 2022
Opioids are the therapeutic agents of choice to manage moderate to severe pain in patients with advanced cancer, however the unpredictable inter-individual response to opioid therapy remains a challenge for clinicians.
Deniz Ozberk, Alison Haywood, Heidi G. Sutherland, Chieh Yu, Cassie L. Albury, Mathew Zunk, Rani George, Phillip Good, Lyn R. Griffiths, Janet Hardy, Larisa M. Haupt   +10 more
doaj   +1 more source