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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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The Gemin associates of survival motor neuron are required for motor function in Drosophila

PloS one, 2013-12, Vol.8 (12), p.e83878-e83878

2013

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Reduced levels of ALS gene DCTN1 induce motor defects in Drosophila

Frontiers in neuroscience, 2023-06, Vol.17, p.1164251-1164251

2023

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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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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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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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Genetic analysis of ALS cases in the isolated island population of Malta

European journal of human genetics : EJHG, 2021-04, Vol.29 (4), p.604-614

2021

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Genetic screen identifies a requirement for SMN in mRNA localisation within the Drosophila oocyte

BMC research notes, 2018-06, Vol.11 (1), p.378-378, Article 378

2018

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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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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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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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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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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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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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A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila

PLoS genetics, 2008-11, Vol.4 (11), p.e1000265-e1000265

2008

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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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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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SOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo

European journal of human genetics : EJHG, 2022-07, Vol.30 (7), p.856-859

2022

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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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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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An activator of voltage-gated K + channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1

Proceedings of the National Academy of Sciences - PNAS, 2023-08, Vol.120 (31), p.e2207978120-e2207978120

2023

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

The Gemin associates of survival motor neuron are required for motor function in Drosophila

Reduced levels of ALS gene DCTN1 induce motor defects in Drosophila

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

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

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

Genetic analysis of ALS cases in the isolated island population of Malta

Genetic screen identifies a requirement for SMN in mRNA localisation within the Drosophila oocyte

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

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

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

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

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

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

A motor function for the DEAD-box RNA helicase, Gemin3, in Drosophila

Tau-induced mitochondrial membrane perturbation is dependent upon cardiolipin

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

SOD1 D91A variant in the southernmost tip of Europe: a heterozygous ALS patient resident on the island of Gozo

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

Genetic landscape of ALS in Malta based on a quinquennial analysis

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

An activator of voltage-gated K + channels Kv1.1 as a therapeutic candidate for episodic ataxia type 1

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