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SCFD1 in amyotrophic lateral sclerosis: reconciling a genetic association with in vivo functional analysis

Neural regeneration research, 2024-06, Vol.19 (6), p.1201-1202

Cauchi, Ruben J.

2024

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Functional characterisation of the ACE2 orthologues in Drosophila provides insights into the neuromuscular complications of COVID-19

Biochimica et biophysica acta. Molecular basis of disease, 2023-12, Vol.1869 (8), p.166818-166818, Article 166818

2023

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Loss of amyotrophic lateral sclerosis risk factor SCFD1 causes motor dysfunction in Drosophila

Neurobiology of aging, 2023-06, Vol.126, p.67-76

2023

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Genetic landscape of ALS in Malta based on a quinquennial analysis

Neurobiology of aging, 2023-03, Vol.123, p.200-207

2023

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Disruption of Survival Motor Neuron in Glia Impacts Survival but has no Effect on Neuromuscular Function in Drosophila

Neuroscience, 2022-05, Vol.491, p.32-42

2022

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Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis

Neuron (Cambridge, Mass.), 2022-03, Vol.110 (6), p.992-1008.e11

2022

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Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

Nature genetics, 2022-03, Vol.54 (3), p.361-361

2022

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ACE and ACE2: insights from Drosophila and implications for COVID-19

Heliyon, 2021-12, Vol.7 (12), p.e08555-e08555, Article e08555

2021

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Occupation and amyotrophic lateral sclerosis risk: a case-control study in the isolated island population of Malta

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2021-10, Vol.22 (7-8), p.528-534

2021

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Extract from the Marine Seaweed Padina pavonica Protects Mitochondrial Biomembranes from Damage by Amyloidogenic Peptides

Molecules (Basel, Switzerland), 2021-03, Vol.26 (5), p.1444

2021

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Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

Cell reports (Cambridge), 2020-12, Vol.33 (9), p.108456-108456, Article 108456

2020

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Toxic oligomers of the amyloidogenic HypF-N protein form pores in mitochondrial membranes

Scientific reports, 2020-10, Vol.10 (1), p.17733, Article 17733

2020

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Tau-induced mitochondrial membrane perturbation is dependent upon cardiolipin

Biochimica et biophysica acta. Biomembranes, 2020-02, Vol.1862 (2), p.183064, Article 183064

2020

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Splicing Defects of the Profilin Gene Alter Actin Dynamics in an S. pombe SMN Mutant

iScience, 2020-01, Vol.23 (1), p.100809-100809, Article 100809

2020

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SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1

Scientific reports, 2019-12, Vol.9 (1), p.18666-19, Article 18666

2019

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Cardiolipin Promotes Pore-Forming Activity of Alpha-Synuclein Oligomers in Mitochondrial Membranes

ACS chemical neuroscience, 2019-08, Vol.10 (8), p.3815-3829

2019

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Modelling motor neuron disease in fruit flies: Lessons from spinal muscular atrophy

Journal of neuroscience methods, 2018-12, Vol.310, p.3-11

2018

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Novel interactors of the Drosophila Survival Motor Neuron (SMN) Complex suggest its full conservation

FEBS letters, 2017-11, Vol.591 (21), p.3600-3614

2017

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Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction

Frontiers in molecular biosciences, 2017-06, Vol.4, p.41-41

2017

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Disruption of snRNP biogenesis factors Tgs1 and pICln induces phenotypes that mirror aspects of SMN-Gemins complex perturbation in Drosophila , providing new insights into spinal muscular atrophy

Neurobiology of disease, 2016-10, Vol.94, p.245-258

2016

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Putative Role of Red Wine Polyphenols against Brain Pathology in Alzheimer's and Parkinson's Disease

Frontiers in nutrition (Lausanne), 2016-08, Vol.3, p.31-31

2016

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Genetic Interactions between the Members of the SMN-Gemins Complex in Drosophila

PloS one, 2015-06, Vol.10 (6), p.e0130974

2015

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GEMINs: potential therapeutic targets for spinal muscular atrophy?

Frontiers in neuroscience, 2014-10, Vol.8, p.325-325

2014

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Genetic animal models of Tourette syndrome: The long and winding road from lab to clinic

Translational neuroscience, 2012-06, Vol.3 (2), p.153-159

2012

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Conserved requirement for DEAD-box RNA helicase Gemin3 in Drosophila oogenesis

BMC research notes, 2012-02, Vol.5 (1), p.120-120, Article 120

Cauchi, Ruben J

2012

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SCFD1 in amyotrophic lateral sclerosis: reconciling a genetic association with in vivo functional analysis

Functional characterisation of the ACE2 orthologues in Drosophila provides insights into the neuromuscular complications of COVID-19

Loss of amyotrophic lateral sclerosis risk factor SCFD1 causes motor dysfunction in Drosophila

Genetic landscape of ALS in Malta based on a quinquennial analysis

Disruption of Survival Motor Neuron in Glia Impacts Survival but has no Effect on Neuromuscular Function in Drosophila

Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis

Author Correction: Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology

ACE and ACE2: insights from Drosophila and implications for COVID-19

Occupation and amyotrophic lateral sclerosis risk: a case-control study in the isolated island population of Malta

Extract from the Marine Seaweed Padina pavonica Protects Mitochondrial Biomembranes from Damage by Amyloidogenic Peptides

Rare Variant Burden Analysis within Enhancers Identifies CAV1 as an ALS Risk Gene

Toxic oligomers of the amyloidogenic HypF-N protein form pores in mitochondrial membranes

Tau-induced mitochondrial membrane perturbation is dependent upon cardiolipin

Splicing Defects of the Profilin Gene Alter Actin Dynamics in an S. pombe SMN Mutant

SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1

Cardiolipin Promotes Pore-Forming Activity of Alpha-Synuclein Oligomers in Mitochondrial Membranes

Modelling motor neuron disease in fruit flies: Lessons from spinal muscular atrophy

Novel interactors of the Drosophila Survival Motor Neuron (SMN) Complex suggest its full conservation

Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction

Disruption of snRNP biogenesis factors Tgs1 and pICln induces phenotypes that mirror aspects of SMN-Gemins complex perturbation in Drosophila , providing new insights into spinal muscular atrophy

Putative Role of Red Wine Polyphenols against Brain Pathology in Alzheimer's and Parkinson's Disease

Genetic Interactions between the Members of the SMN-Gemins Complex in Drosophila

GEMINs: potential therapeutic targets for spinal muscular atrophy?

Genetic animal models of Tourette syndrome: The long and winding road from lab to clinic

Conserved requirement for DEAD-box RNA helicase Gemin3 in Drosophila oogenesis

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