Modelling autism spectrum disorder (ASD) and attention-deficit/hyperactivity disorder (ADHD) using mice and zebrafish

G Dougnon, H Matsui - International journal of molecular sciences, 2022 - mdpi.com
Autism spectrum disorders (ASD) and attention-deficit/hyperactivity disorder (ADHD) are two
debilitating neurodevelopmental disorders. The former is associated with social impairments …

The ras superfamily of small gtpases in non-neoplastic cerebral diseases

L Qu, C Pan, SM He, B Lang, GD Gao… - Frontiers in molecular …, 2019 - frontiersin.org
The small GTPases from the Ras superfamily play crucial roles in basic cellular processes
during practically the entire process of neurodevelopment, including neurogenesis …

[HTML][HTML] RIT2 regulates autophagy lysosomal pathway induction and protects against α-synuclein pathology in a cellular model of Parkinson's disease

AYL Gao, DR Montagna, WD Hirst, PA Temkin - Neurobiology of Disease, 2024 - Elsevier
Substantial work has been devoted to better understand the contribution of the myriad of
genes that may underly the development of Parkinson's disease (PD) and their role in …

Linking autism spectrum disorders and parkinsonism: clinical and genetic association

AS Mai, CE Yau, FS Tseng, QXJ Foo… - Annals of Clinical …, 2023 - Wiley Online Library
Background Autism spectrum disorders (ASD) comprise many complex and clinically distinct
neurodevelopmental conditions, with increasing evidence linking them to parkinsonism …

Genomic markers for essential tremor

FJ Jiménez-Jiménez, H Alonso-Navarro… - Pharmaceuticals, 2021 - mdpi.com
There are many reports suggesting an important role of genetic factors in the
etiopathogenesis of essential tremor (ET), encouraging continuing the research for possible …

[HTML][HTML] Genetic risk factors for essential tremor: a review

V Siokas, AM Aloizou, Z Tsouris, I Liampas… - Tremor and Other …, 2020 - ncbi.nlm.nih.gov
Background: Essential tremor (ET) is a common movement disorder, which is mainly
characterized by bilateral tremor (postural and/or kinetic) in the upper limbs, with other parts …

Conditional, inducible gene silencing in dopamine neurons reveals a sex-specific role for Rit2 GTPase in acute cocaine response and striatal function

CG Sweeney, PJ Kearney, RR Fagan… - …, 2020 - nature.com
Dopamine (DA) signaling is critical for movement, motivation, and addictive behavior. The
neuronal GTPase, Rit2, is enriched in DA neurons (DANs), binds directly to the DA …

Natural selection at the NHLH2 core promoter exceptionally long CA-repeat in human and disease-only genotypes in late-onset neurocognitive disorder

H Afshar, F Adelirad, A Kowsari, N Kalhor, A Delbari… - Gerontology, 2020 - karger.com
Background: Approximately 2% of the human core promoter short tandem repeats (STRs)
reach lengths of≥ 6 repeats, which may in part be a result of adaptive evolutionary …

Dopamine transporter trafficking and Rit2 GTPase: Mechanism of action and in vivo impact

RR Fagan, PJ Kearney, CG Sweeney, D Luethi… - Journal of Biological …, 2020 - ASBMB
Following its evoked release, dopamine (DA) signaling is rapidly terminated by presynaptic
reuptake, mediated by the cocaine-sensitive DA transporter (DAT). DAT surface availability …

Silencing Parkinson's risk allele Rit2 sex-specifically compromises motor function and dopamine neuron viability

PJ Kearney, Y Zhang, M Liang, Y Tan… - npj Parkinson's …, 2024 - nature.com
Parkinson's disease (PD) is the second most prevalent neurodegenerative disease and
arises from dopamine (DA) neuron death selectively in the substantia nigra pars compacta …