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Ruben J Cauchi
Ruben J Cauchi
Associate Professor, University of Malta
Verified email at um.edu.mt - Homepage
Title
Cited by
Cited by
Year
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
W Van Rheenen, RAA Van Der Spek, MK Bakker, JJFA Van Vugt, PJ Hop, ...
Nature genetics 53 (12), 1636-1648, 2021
2752021
Putative role of red wine polyphenols against brain pathology in Alzheimer’s and Parkinson’s disease
M Caruana, R Cauchi, N Vassallo
Frontiers in nutrition 3, 31, 2016
1632016
The fly as a model for neurodegenerative diseases: is it worth the jump?
RJ Cauchi, M Van Den Heuvel
Neuro-degenerative diseases 3 (6), 338, 2007
1142007
SMN and Gemins:‘we are family’… or are we? Insights into the partnership between Gemins and the spinal muscular atrophy disease protein SMN
RJ Cauchi
Bioessays 32 (12), 1077-1089, 2010
1122010
Interaction of α-synuclein with biomembranes in Parkinson's disease—role of cardiolipin
S Ghio, F Kamp, R Cauchi, A Giese, N Vassallo
Progress in lipid research 61, 73-82, 2016
1102016
Value of systematic genetic screening of patients with amyotrophic lateral sclerosis
SR Shepheard, MD Parker, J Cooper-Knock, NS Verber, L Tuddenham, ...
Journal of Neurology, Neurosurgery & Psychiatry 92 (5), 510-518, 2021
822021
Cardiolipin Promotes Pore-Forming Activity of Alpha-Synuclein Oligomers in Mitochondrial Membranes
S Ghio, A Camilleri, M Caruana, VC Ruf, F Schmidt, A Leonov, ...
ACS chemical neuroscience 10 (8), 3815-3829, 2019
762019
Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
S Zhang, J Cooper-Knock, AK Weimer, M Shi, T Moll, JNG Marshall, ...
Neuron 110 (6), 992-1008. e11, 2022
732022
A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila
RJ Cauchi, KE Davies, JL Liu
PLoS genetics 4 (11), e1000265, 2008
642008
Tau-induced mitochondrial membrane perturbation is dependent upon cardiolipin
A Camilleri, S Ghio, M Caruana, D Weckbecker, F Schmidt, F Kamp, ...
Biochimica et Biophysica Acta (BBA)-Biomembranes 1862 (2), 183064, 2020
492020
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
PJ Hop, RAJ Zwamborn, E Hannon, GL Shireby, MF Nabais, EM Walker, ...
Science translational medicine 14 (633), eabj0264, 2022
462022
Drosophila SMN complex proteins Gemin2, Gemin3, and Gemin5 are components of U bodies
RJ Cauchi, L Sanchez-Pulido, JL Liu
Experimental cell research 316 (14), 2354-2364, 2010
452010
The gemin associates of survival motor neuron are required for motor function in Drosophila
R Borg, RJ Cauchi
PloS one 8 (12), e83878, 2013
352013
Gem depletion: amyotrophic lateral sclerosis and spinal muscular atrophy crossover
RJ Cauchi
CNS neuroscience & therapeutics 20 (7), 574-581, 2014
312014
Spinal muscular atrophy: from defective chaperoning of snRNP assembly to neuromuscular dysfunction
M Lanfranco, N Vassallo, RJ Cauchi
Frontiers in molecular biosciences 4, 41, 2017
302017
The multiple lives of DEAD-box RNA helicase DP103/DDX20/Gemin3
F Curmi, RJ Cauchi
Biochemical Society Transactions 46 (2), 329-341, 2018
292018
Extracts from two ubiquitous Mediterranean plants ameliorate cellular and animal models of neurodegenerative proteinopathies
M Briffa, S Ghio, J Neuner, AJ Gauci, R Cacciottolo, C Marchal, ...
Neuroscience letters 638, 12-20, 2017
282017
Genetic analysis of ALS cases in the isolated island population of Malta
R Borg, M Farrugia Wismayer, K Bonavia, A Farrugia Wismayer, M Vella, ...
European Journal of Human Genetics 29 (4), 604-614, 2021
252021
Genetic interactions between the members of the SMN-gemins complex in Drosophila
RM Borg, R Bordonne, N Vassallo, RJ Cauchi
PloS one 10 (6), e0130974, 2015
252015
Gem formation upon constitutive Gemin3 overexpression in Drosophila
RJ Cauchi
Cell biology international 35 (12), 1233-1238, 2011
252011
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