Gemma Marfany
Overview
Explore the profile of Gemma Marfany including associated specialties, affiliations and a list of published articles.
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Articles
67
Citations
1024
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Recent Articles
1.
Baz-Redon N, Sanchez-Bellver L, Fernandez-Cancio M, Rovira-Amigo S, Burgoyne T, Ranjit R, et al.
Cells
. 2024 Mar;
13(6.
PMID: 38534367
We report a novel missense variant co-segregated with a familial X-linked retinitis pigmentosa (XLRP) case. The brothers were hemizygous for this variant, but only the proband presented with primary ciliary...
2.
Aisa-Marin I, Rovira Q, Diaz N, Calvo-Lopez L, Vaquerizas J, Marfany G
Neurobiol Dis
. 2024 Mar;
194:106463.
PMID: 38485095
Mutations in NR2E3, a gene encoding an orphan nuclear transcription factor, cause two retinal dystrophies with a distinct phenotype, but the precise role of NR2E3 in rod and cone transcriptional...
3.
Izquierdo-Villalba I, Mirra S, Manso Y, Parcerisas A, Rubio J, Del Valle J, et al.
Sci Signal
. 2024 Feb;
17(822):eabq1007.
PMID: 38320000
Mitochondrial dynamics and trafficking are essential to provide the energy required for neurotransmission and neural activity. We investigated how G protein-coupled receptors (GPCRs) and G proteins control mitochondrial dynamics and...
4.
Mirra S, Marfany G
Int J Mol Sci
. 2024 Jan;
25(2).
PMID: 38255908
Mitochondria are double-membrane organelles within eukaryotic cells that act as cellular power houses owing to their ability to efficiently generate the ATP required to sustain normal cell function. Also, they...
5.
Garcia-Arroyo R, Domenech E, Herrera-Ubeda C, Asensi M, Nunez de Arenas C, Cuezva J, et al.
Redox Biol
. 2023 Sep;
66:102862.
PMID: 37660443
The retina is particularly vulnerable to genetic and environmental alterations that generate oxidative stress and cause cellular damage in photoreceptors and other retinal neurons, eventually leading to cell death. CERKL...
6.
Barbeito P, Martin-Morales R, Palencia-Campos A, Cerrolaza J, Rivas-Santos C, Gallego-Colastra L, et al.
Front Cell Dev Biol
. 2023 Aug;
11:1190258.
PMID: 37576597
Ellis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based...
7.
Sanchez-Bellver L, Ferriz-Gordillo A, Carrillo-Pz M, Rabanal L, Garcia-Gonzalo F, Marfany G
Int J Mol Sci
. 2022 Oct;
23(20).
PMID: 36293380
Proteins related to the ubiquitin-proteasome system play an important role during the differentiation and ciliogenesis of photoreceptor cells. Mutations in several genes involved in ubiquitination and proteostasis have been identified...
8.
Castilla-Vallmanya L, Centeno-Pla M, Serrano M, Franco-Valls H, Martinez-Cabrera R, Prat-Planas A, et al.
J Med Genet
. 2022 Oct;
60(4):406-415.
PMID: 36243518
Background: Schaaf-Yang syndrome (SYS) is caused by truncating mutations in , mapping to the Prader-Willi region (15q11-q13), with an observed phenotype partially overlapping that of Prader-Willi syndrome. MAGEL2 plays a...
9.
Garcia-Arroyo R, Marfany G, Mirra S
Int J Mol Sci
. 2022 Oct;
23(19).
PMID: 36232896
Mutations in the () gene cause retinal dystrophies, characterized by progressive degeneration of retinal neurons, which eventually lead to vision loss. Among other functions, CERKL is involved in the regulation...
10.
Salman A, Kantor A, McClements M, Marfany G, Trigueros S, MacLaren R
Pharmaceutics
. 2022 Sep;
14(9).
PMID: 36145593
The discovery of the CRISPR/Cas system and its development into a powerful genome engineering tool have revolutionized the field of molecular biology and generated excitement for its potential to treat...