Ruben J Cauchi
Overview
Explore the profile of Ruben J Cauchi including associated specialties, affiliations and a list of published articles.
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Articles
38
Citations
656
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Recent Articles
1.
Cacciottolo R, Cauchi R
Dev Biol
. 2025 Feb;
521:37-51.
PMID: 39924071
Gemin3 (Gem3) or DEAD-box RNA helicase 20 (Ddx20) has been mostly implicated in the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs) as part of the SMN-Gemins complex. Nonetheless, several studies...
2.
3.
Herrera P, Cauchi R
Biochim Biophys Acta Mol Basis Dis
. 2023 Jul;
1869(8):166818.
PMID: 37495086
SARS-CoV-2, the virus responsible for the coronavirus disease of 2019 (COVID-19), gains cellular entry via interaction with the angiotensin-converting enzyme 2 (ACE2) receptor of host cells. Although SARS-CoV-2 mainly targets...
4.
An activator of voltage-gated K channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1
Servettini I, Talani G, Megaro A, Setzu M, Biggio F, Briffa M, et al.
Proc Natl Acad Sci U S A
. 2023 Jul;
120(31):e2207978120.
PMID: 37487086
Loss-of-function mutations in the (Kv1.1) gene cause episodic ataxia type 1 (EA1), a neurological disease characterized by cerebellar dysfunction, ataxic attacks, persistent myokymia with painful cramps in skeletal muscles, and...
5.
Borg R, Herrera P, Purkiss A, Cacciottolo R, Cauchi R
Front Neurosci
. 2023 Jun;
17:1164251.
PMID: 37360176
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neuromuscular disease that has a strong genetic component. Deleterious variants in the gene are known to be a cause of ALS in...
6.
Borg R, Purkiss A, Cacciottolo R, Herrera P, Cauchi R
Neurobiol Aging
. 2023 Mar;
126:67-76.
PMID: 36944290
Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disease mostly resulting from a complex interplay between genetic, environmental and lifestyle factors. Common genetic variants in the Sec1 Family Domain Containing...
7.
Farrugia Wismayer M, Farrugia Wismayer A, Borg R, Bonavia K, Abela A, Chircop C, et al.
Neurobiol Aging
. 2022 Dec;
123:200-207.
PMID: 36549973
Genetic risk for amyotrophic lateral sclerosis (ALS) is highly elevated in genetic isolates, like the island population of Malta in the south of Europe, providing a unique opportunity to investigate...
8.
Farrugia M, Vassallo N, Cauchi R
Neuroscience
. 2022 Mar;
491:32-42.
PMID: 35314252
Increasing evidence points to the involvement of cell types other than motor neurons in both amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA), the predominant motor neuron disease in...
9.
Hop P, Zwamborn R, Hannon E, Shireby G, Nabais M, Walker E, et al.
Sci Transl Med
. 2022 Feb;
14(633):eabj0264.
PMID: 35196023
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) exposures and disease progression,...
10.
van Rheenen W, van der Spek R, Bakker M, van Vugt J, Hop P, Zwamborn R, et al.
Nat Genet
. 2022 Feb;
54(3):361.
PMID: 35102318
No abstract available.