Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 RAB GTPases and RAB-interacting proteins and their role in the control of cognitive functions.

Literature DB >> 24412241

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

Patrizia D'Adamo¹, Michela Masetti², Veronica Bianchi³, Lorenzo Morè², Maria Lidia Mignogna³, Maila Giannandrea⁴, Silvia Gatti⁵.

Abstract

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 consequent dedicated biochemical work, substantial progress has been made on the understanding of the role played by RAB GTPases and their effector proteins on neuronal development and the shaping of cognitive functions. This review is highlighting these initial elements to broaden the current scope of research on developmental cognitive deficits and take the point of view of RAB GTPases control on membrane transport in neurons and astrocytes.

Entities: Chemical

Keywords: Brain development; G proteins; GDI1; GTPase; Intellectual disability; RAB

Mesh：

Substances：

Year: 2014 PMID： 24412241 DOI： 10.1016/j.neubiorev.2013.12.009

Source DB: PubMed Journal: Neurosci Biobehav Rev ISSN： 0149-7634 Impact factor: 8.989

Keyword Cloud
Cited

23 in total

1. Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.

Authors: Ideke J C Lamers; Margot R F Reijnders; Hanka Venselaar; Alison Kraus; Sandra Jansen; Bert B A de Vries; Gunnar Houge; Gyri Aasland Gradek; Jieun Seo; Murim Choi; Jong-Hee Chae; Ineke van der Burgt; Rolph Pfundt; Stef J F Letteboer; Sylvia E C van Beersum; Simone Dusseljee; Han G Brunner; Dan Doherty; Tjitske Kleefstra; Ronald Roepman
Journal: Am J Hum Genet Date: 2017-10-26 Impact factor: 11.025

Review 2. Emerging nexus between RAB GTPases, autophagy and neurodegeneration.

Authors: Navodita Jain; Subramaniam Ganesh
Journal: Autophagy Date: 2016-03-17 Impact factor: 16.016

3. 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.

Authors: Maria Lidia Mignogna; Romina Ficarella; Susanna Gelmini; Lucia Marzulli; Emanuela Ponzi; Alessandra Gabellone; Antonia Peschechera; Massino Alessio; Lucia Margari; Mattia Gentile; Patrizia D'Adamo
Journal: Hum Mol Genet Date: 2022-05-04 Impact factor: 5.121

4. Impaired αGDI Function in the X-Linked Intellectual Disability: The Impact on Astroglia Vesicle Dynamics.

Authors: Maja Potokar; Jernej Jorgačevski; Valentina Lacovich; Marko Kreft; Nina Vardjan; Veronica Bianchi; Patrizia D'Adamo; Robert Zorec
Journal: Mol Neurobiol Date: 2016-03-12 Impact factor: 5.590

5. Strain-Specific Altered Regulatory Response of Rab7a and Tau in Creutzfeldt-Jakob Disease and Alzheimer's Disease.

Authors: Saima Zafar; Neelam Younas; Susana Correia; Mohsin Shafiq; Waqas Tahir; Matthias Schmitz; Isidre Ferrer; Olivier Andréoletti; Inga Zerr
Journal: Mol Neurobiol Date: 2016-01-14 Impact factor: 5.590

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

Authors: Maria Lidia Mignogna; Maila Giannandrea; Antonia Gurgone; Francesca Fanelli; Francesco Raimondi; Lisa Mapelli; Silvia Bassani; Huaqiang Fang; Eelco Van Anken; Massimo Alessio; Maria Passafaro; Silvia Gatti; José A Esteban; Richard Huganir; Patrizia D'Adamo
Journal: Nat Commun Date: 2015-03-18 Impact factor: 14.919

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

1. Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.

Review 2. Emerging nexus between RAB GTPases, autophagy and neurodegeneration.

3. 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.

4. Impaired αGDI Function in the X-Linked Intellectual Disability: The Impact on Astroglia Vesicle Dynamics.

5. Strain-Specific Altered Regulatory Response of Rab7a and Tau in Creutzfeldt-Jakob Disease and Alzheimer's Disease.

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

Review 7. The role of the small GTPase Rab31 in cancer.

Review 8. Molecular Machines Determining the Fate of Endocytosed Synaptic Vesicles in Nerve Terminals.

Review 9. The emerging role of guanine nucleotide exchange factors in ALS and other neurodegenerative diseases.

Review 10. Defects in the COG complex and COG-related trafficking regulators affect neuronal Golgi function.