Gemma Marfany

Barcelona, CT 08028, Spain

Last Updated: 09/26/2026

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Found 51 publications

Marine Derived Strategies Against Neurodegeneration.

Marine Derived Strategies Against Neurodegeneration.

Journal: Marine drugs

Published: June 27, 2025

A mammalian-specific Alex3/Gαq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival.

A mammalian-specific Alex3/Gαq protein complex regulates mitochondrial trafficking, dendritic complexity, and neuronal survival.

Journal: Science signaling

Published: February 06, 2024

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.

Primary Ciliary Dyskinesia and Retinitis Pigmentosa: Novel RPGR Variant and Possible Modifier Gene.

Journal: Cells

Published: February 02, 2024

Specific photoreceptor cell fate pathways are differentially altered in NR2E3-associated diseases.

Specific photoreceptor cell fate pathways are differentially altered in NR2E3-associated diseases.

Journal: Neurobiology of disease

Published: December 27, 2023

From Beach to the Bedside: Harnessing Mitochondrial Function in Human Diseases Using New Marine-Derived Strategies.

From Beach to the Bedside: Harnessing Mitochondrial Function in Human Diseases Using New Marine-Derived Strategies.

Journal: International journal of molecular sciences

Published: December 13, 2023

Exacerbated response to oxidative stress in the Retinitis Pigmentosa CerklKD/KO mouse model triggers retinal degeneration pathways upon acute light stress.

Exacerbated response to oxidative stress in the Retinitis Pigmentosa CerklKD/KO mouse model triggers retinal degeneration pathways upon acute light stress.

Journal: Redox biology

Published: August 01, 2023

EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.

EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMO.

Journal: Frontiers in cell and developmental biology

Published: March 21, 2023

The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3.

The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3.

Journal: International journal of molecular sciences

Published: September 28, 2022

CERKL, a Retinal Dystrophy Gene, Regulates Mitochondrial Transport and Dynamics in Hippocampal Neurons.

CERKL, a Retinal Dystrophy Gene, Regulates Mitochondrial Transport and Dynamics in Hippocampal Neurons.

Journal: International journal of molecular sciences

Published: September 01, 2022

Non-Viral Delivery of CRISPR/Cas Cargo to the Retina Using Nanoparticles: Current Possibilities, Challenges, and Limitations.

Non-Viral Delivery of CRISPR/Cas Cargo to the Retina Using Nanoparticles: Current Possibilities, Challenges, and Limitations.

Journal: Pharmaceutics

Published: July 20, 2022

Ubiquitin Specific Protease USP48 Destabilizes NF-κB/p65 in Retinal Pigment Epithelium Cells.

Ubiquitin Specific Protease USP48 Destabilizes NF-κB/p65 in Retinal Pigment Epithelium Cells.

Journal: International journal of molecular sciences

Published: July 20, 2022

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.

Advancing in Schaaf-Yang syndrome pathophysiology: from bedside to subcellular analyses of truncated MAGEL2.

Journal: Journal of medical genetics

Published: May 09, 2022

Showing 1-12 of 51

Last Updated: 09/26/2026