Výsledky vyhledávání - "Maria Lidia Mignogna"

Clinical characterization of a novel RAB39B nonstop mutation in a family with ASD and severe ID causing RAB39B downregulation and study of a Rab39b knock down mouse model

Autor: Mattia Gentile, Patrizia D'Adamo, Alessandra Gabellone, Lucia Margari, Susanna Gelmini, Romina Ficarella, Antonia Peschechera, Lucia Marzulli, Maria Lidia Mignogna, Emanuela Ponzi, Massino Alessio

Publikováno v: Human molecular genetics. 31(9)

Autism spectrum disorder (ASD) and intellectual disability (ID) often exist together in patients. The RAB39B gene has been reported to be mutated in ID patients with additional clinical features ranging from ASD, macrocephaly, seizures and/or early-o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::40da3621204fdfb7c7b2949c2588c436
https://pubmed.ncbi.nlm.nih.gov/34761259

Zobrazit plný text záznamu

Inhibiting glycolysis rescues memory impairment in an intellectual disability Gdi1-null mouse

Publikováno v: Metabolism
Metabolism, clinical and experimental
116 (2021): 154463. doi:10.1016/j.metabol.2020.154463
info:cnr-pdr/source/autori:D'Adamo P.; Horvat A.; Gurgone A.; Mignogna M.L.; Bianchi V.; Masetti M.; Ripamonti M.; Taverna S.; Velebit J.; Malnar M.; Muhic M.; Fink K.; Bachi A.; Restuccia U.; Belloli S.; Moresco R.M.; Mercalli A.; Piemonti L.; Potokar M.; Bobnar S.T.; Kreft M.; Chowdhury H.H.; Stenovec M.; Vardjan N.; Zorec R./titolo:Inhibiting glycolysis rescues memory impairment in an intellectual disability Gdi1-null mouse/doi:10.1016%2Fj.metabol.2020.154463/rivista:Metabolism, clinical and experimental (Print)/anno:2021/pagina_da:154463/pagina_a:/intervallo_pagine:154463/volume:116

Objectives GDI1 gene encodes for αGDI, a protein controlling the cycling of small GTPases, reputed to orchestrate vesicle trafficking. Mutations in human GDI1 are responsible for intellectual disability (ID). In mice with ablated Gdi1, a model of ID

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2b634b090f73e01f5e64f5a419978ac
http://europepmc.org/articles/PMC7871014

Zobrazit plný text záznamu

RAB39B-mediated trafficking of the GluA2-AMPAR subunit controls dendritic spine maturation and intellectual disability-related behaviour

Autor: Paolo Marra, Susanna Gelmini, Pedro Espinosa, Maria Lidia Mignogna, Rosa Maria Moresco, Camilla Bellone, Giulia Ranieri, Stefano Musardo, Patrizia D'Adamo, Valentina Murtaj, Sara Belloli

Publikováno v: Molecular Psychiatry
Molecular psychiatry (Online) 26 (2021): 6531–6549. doi:10.1038/s41380-021-01155-5
info:cnr-pdr/source/autori:Mignogna M.L.; Musardo S.; Ranieri G.; Gelmini S.; Espinosa P.; Marra P.; Belloli S.; Murtaj V.; Moresco R.M.; Bellone C.; D'Adamo P./titolo:RAB39B-mediated trafficking of the GluA2-AMPAR subunit controls dendritic spine maturation and intellectual disability-related behaviour/doi:10.1038%2Fs41380-021-01155-5/rivista:Molecular psychiatry (Online)/anno:2021/pagina_da:6531/pagina_a:6549/intervallo_pagine:6531–6549/volume:26

Mutations in the RAB39B gene cause X-linked intellectual disability (XLID), comorbid with autism spectrum disorders or early Parkinson’s disease. One of the functions of the neuronal small GTPase RAB39B is to drive GluA2/GluA3 α-amino-3-hydroxy-5-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3919cb3b227de0ef56db43f48a82821d
https://pubmed.ncbi.nlm.nih.gov/34035473

Zobrazit plný text záznamu

Critical importance of RAB proteins for synaptic function

Autor: Patrizia D'Adamo, Maria Lidia Mignogna

Publikováno v: Small GTPases

Neurons are highly polarized cells that exhibit one of the more complex morphology and function. Neuronal intracellular trafficking plays a key role in dictating the directionality and specificity of vesicle formation, transport and fusion, allowing

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1047d18b363e8feb817ea8e29c3b11cf
http://europepmc.org/articles/PMC5902211

Zobrazit plný text záznamu

X-linked Parkinsonism with Intellectual Disability caused by novel mutations and somatic mosaicism in RAB39B gene

Autor: Jenny Sassone, Barbara Poletti, Roberta Villa, Maria Teresa Bonati, Vincenzo Silani, Paola Carrera, Floriano Girotti, Gabriele Buongarzone, Maria Lidia Mignogna, Edoardo Monfrini, Maurizio Ferrari, Alessio Di Fonzo, Andrea Ciammola, Patrizia D'Adamo, Claudia Cinnante

Background RAB39B pathogenic variants cause X-linked Parkinsonism associated with Intellectual Disability, known as Waisman syndrome, a very rare disorder that has been mainly identified through exome sequencing in large Parkinson's disease cohorts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::597ef9e70a6a5472a4f5d7a4a8b14d23

Zobrazit plný text záznamu

RAB GTPases and RAB-interacting proteins and their role in the control of cognitive functions

Autor: Silvia Gatti, Maila Giannandrea, Maria Lidia Mignogna, Lorenzo Morè, Veronica Bianchi, Patrizia D'Adamo, Michela Masetti

Publikováno v: Neuroscience & Biobehavioral Reviews. 46:302-314

A RAS-related class of small monomeric G proteins, the RAB GTPases, is emerging as of key biological importance in compartment specific directional control of vesicles formation, transport and fusion. Thanks to human genetic observation and to the co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12098dc505ad9c94ade461494ccda7e7
https://doi.org/10.1016/j.neubiorev.2013.12.009

Zobrazit plný text záznamu

The intellectual disability protein RAB39B selectively regulates GluA2 trafficking to determine synaptic AMPAR composition

Autor: Antonia Gurgone, Maria Passafaro, Maila Giannandrea, Francesca Fanelli, Silvia Gatti, José A. Esteban, Silvia Bassani, Lisa Mapelli, Patrizia D'Adamo, Eelco van Anken, Richard L. Huganir, Francesco Raimondi, Huaqiang Fang, Massimo Alessio, Maria Lidia Mignogna

Publikováno v: Nature Communications
Digital.CSIC. Repositorio Institucional del CSIC
instname

All rights reserved. RAB39B is a member of the RAB family of small GTPases that controls intracellular vesicular trafficking in a compartment-specific manner. Mutations in the RAB39B gene cause intellectual disability comorbid with autism spectrum di

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fdbf4042a21051bea890521ecf5eaef3
http://hdl.handle.net/2318/1795451

Zobrazit plný text záznamu

Mutations in the Small GTPase Gene RAB39B Are Responsible for X-linked Mental Retardation Associated with Autism, Epilepsy, and Macrocephaly

Publikováno v: American Journal of Human Genetics, 86, 185-95
American Journal of Human Genetics, 86, 2, pp. 185-95

Contains fulltext : 89420.pdf (Publisher’s version ) (Closed access) Human Mental Retardation (MR) is a common and highly heterogeneous pediatric disorder affecting around 3% of the general population; at least 215 X-linked MR (XLMR) conditions hav

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c0a19244c6ad00f9f8c1d7270845760a

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání