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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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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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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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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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GEMINs: potential therapeutic targets for spinal muscular atrophy?

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

2014

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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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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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SMN and Gemins: 'We are family' ... or are we?

BioEssays, 2010-12, Vol.32 (12), p.1077-1089

Cauchi, Ruben J.

2010

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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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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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Gem Depletion: Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy Crossover

CNS neuroscience & therapeutics, 2014-07, Vol.20 (7), p.574-581

Cauchi, Ruben J.

2014

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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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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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Gem formation upon constitutive Gemin3 overexpression in Drosophila

Cell biology international, 2011-12, Vol.35 (12), p.1233-1238

Cauchi, Ruben J.

2011

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Drosophila SMN complex proteins Gemin2, Gemin3, and Gemin5 are components of U bodies

Experimental cell research, 2010-08, Vol.316 (14), p.2354-2364

2010

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The Fly as a Model for Neurodegenerative Diseases: Is It Worth the Jump?

Neuro-degenerative diseases, 2006-01, Vol.3 (6), p.338-356

2006

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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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Genome-wide expression analysis of a spinal muscular atrophy model: towards discovery of new drug targets

PloS one, 2008-01, Vol.3 (1), p.e1404-e1404

2008

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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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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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A Motor Function for the DEAD-Box RNA Helicase, Gemin3, in Drosophila: e1000265

PLoS genetics, 2008-11, Vol.4 (11)

2008

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Correction: Genome-Wide Expression Analysis of a Spinal Muscular Atrophy Model: Towards Discovery of New Drug Targets

PloS one, 2008-04, Vol.3 (4)

2008

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Correction: Genome-Wide Expression Analysis of a Spinal Muscular Atrophy Model: Towards Discovery of New Drug Targets

PloS one, 2008-01, Vol.3 (4)

2008

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

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

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

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

GEMINs: potential therapeutic targets for spinal muscular atrophy?

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

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

SMN and Gemins: 'We are family' ... or are we?

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

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

Gem Depletion: Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy Crossover

Genetic landscape of ALS in Malta based on a quinquennial analysis

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

Gem formation upon constitutive Gemin3 overexpression in Drosophila

Drosophila SMN complex proteins Gemin2, Gemin3, and Gemin5 are components of U bodies

The Fly as a Model for Neurodegenerative Diseases: Is It Worth the Jump?

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

Genome-wide expression analysis of a spinal muscular atrophy model: towards discovery of new drug targets

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

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

A Motor Function for the DEAD-Box RNA Helicase, Gemin3, in Drosophila: e1000265

Correction: Genome-Wide Expression Analysis of a Spinal Muscular Atrophy Model: Towards Discovery of New Drug Targets

Correction: Genome-Wide Expression Analysis of a Spinal Muscular Atrophy Model: Towards Discovery of New Drug Targets

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

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

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