Maria Lidia Mignogna
Overview
Explore the profile of Maria Lidia Mignogna including associated specialties, affiliations and a list of published articles.
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8
Citations
294
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Recent Articles
1.
Mignogna M, Ficarella R, Gelmini S, Marzulli L, Ponzi E, Gabellone A, et al.
Hum Mol Genet
. 2021 Nov;
31(9):1389-1406.
PMID: 34761259
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...
2.
Mignogna M, Musardo S, Ranieri G, Gelmini S, Espinosa P, Marra P, et al.
Mol Psychiatry
. 2021 May;
26(11):6531-6549.
PMID: 34035473
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...
3.
DAdamo P, Horvat A, Gurgone A, Mignogna M, Bianchi V, Masetti M, et al.
Metabolism
. 2020 Dec;
116:154463.
PMID: 33309713
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...
4.
Ciammola A, Carrera P, Di Fonzo A, Sassone J, Villa R, Poletti B, et al.
Parkinsonism Relat Disord
. 2017 Aug;
44:142-146.
PMID: 28851564
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...
5.
Mignogna M, DAdamo P
Small GTPases
. 2017 Feb;
9(1-2):145-157.
PMID: 28146371
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...
6.
Mignogna M, Giannandrea M, Gurgone A, Fanelli F, Raimondi F, Mapelli L, et al.
Nat Commun
. 2015 Mar;
6:6504.
PMID: 25784538
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...
7.
DAdamo P, Masetti M, Bianchi V, More L, Mignogna M, Giannandrea M, et al.
Neurosci Biobehav Rev
. 2014 Jan;
46 Pt 2:302-14.
PMID: 24412241
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...
8.
Giannandrea M, Bianchi V, Mignogna M, Sirri A, Carrabino S, DElia E, et al.
Am J Hum Genet
. 2010 Feb;
86(2):185-95.
PMID: 20159109
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 have been described, and...