Leire Goicoechea
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Explore the profile of Leire Goicoechea including associated specialties, affiliations and a list of published articles.
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10
Citations
78
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Recent Articles
1.
Goicoechea L, Torres S, Fabrega L, Barrios M, Nunez S, Casas J, et al.
Redox Biol
. 2024 Apr;
72:103150.
PMID: 38599016
Niemann-Pick type C (NPC) disease is a lysosomal storage disorder characterized by impaired motor coordination due to neurological defects and cerebellar dysfunction caused by the accumulation of cholesterol in endolysosomes....
2.
Munoz-Oreja M, Sandoval A, Bruland O, Perez-Rodriguez D, Fernandez-Pelayo U, de Arbina A, et al.
Brain
. 2024 Jan;
147(5):1899-1913.
PMID: 38242545
Aberrant cholesterol metabolism causes neurological disease and neurodegeneration, and mitochondria have been linked to perturbed cholesterol homeostasis via the study of pathological mutations in the ATAD3 gene cluster. However, whether...
3.
Launay N, Ruiz M, Planas-Serra L, Verdura E, Rodriguez-Palmero A, Schluter A, et al.
J Clin Invest
. 2023 Jul;
133(14).
PMID: 37463447
The Rad50 interacting protein 1 (Rint1) is a key player in vesicular trafficking between the ER and Golgi apparatus. Biallelic variants in RINT1 cause infantile-onset episodic acute liver failure (ALF)....
4.
Planas-Serra L, Launay N, Goicoechea L, Heron B, Jou C, Julia-Palacios N, et al.
J Clin Invest
. 2023 Mar;
133(10).
PMID: 36951944
Sphingolipids function as membrane constituents and signaling molecules, with crucial roles in human diseases, from neurodevelopmental disorders to cancer, best exemplified in the inborn errors of sphingolipid metabolism in lysosomes....
5.
Goicoechea L, Conde de la Rosa L, Torres S, Garcia-Ruiz C, Fernandez-Checa J
Redox Biol
. 2023 Mar;
61:102643.
PMID: 36857930
Cholesterol is a crucial component of membrane bilayers by regulating their structural and functional properties. Cholesterol traffics to different cellular compartments including mitochondria, whose cholesterol content is low compared to...
6.
Parameswaran J, Goicoechea L, Planas-Serra L, Pastor A, Ruiz M, Calingasan N, et al.
Acta Neuropathol
. 2022 Jul;
144(2):241-258.
PMID: 35778568
Aberrant endocannabinoid signaling accompanies several neurodegenerative disorders, including multiple sclerosis. Here, we report altered endocannabinoid signaling in X-linked adrenoleukodystrophy (X-ALD), a rare neurometabolic demyelinating syndrome caused by malfunction of the...
7.
Goicoechea L, Arenas F, Castro F, Nunez S, Torres S, Garcia-Ruiz C, et al.
STAR Protoc
. 2022 Jan;
3(1):101068.
PMID: 35024626
Abnormal cholesterol metabolism is linked to many neurodegenerative disorders. Here, we present a protocol for the production of a recombinant protein consisting of a Glutathione-S-Transferase tag fused with the Perfringolysin...
8.
Ramiro L, Garcia-Berrocoso T, Brianso F, Goicoechea L, Simats A, Llombart V, et al.
Mol Neurobiol
. 2021 May;
58(8):4107-4121.
PMID: 33939164
Stroke is a major cause of death and disability. A better comprehension of stroke pathophysiology is fundamental to reduce its dramatic outcome. The use of high-throughput unbiased omics approaches and...
9.
Garcia-Cazorla A, Verdura E, Julia-Palacios N, Anderson E, Goicoechea L, Planas-Serra L, et al.
Acta Neuropathol
. 2020 Oct;
140(6):971-975.
PMID: 33015733
No abstract available.
10.
Fourcade S, Goicoechea L, Parameswaran J, Schluter A, Launay N, Ruiz M, et al.
Brain Pathol
. 2020 Jun;
30(5):945-963.
PMID: 32511826
Biotin is an essential cofactor for carboxylases that regulates the energy metabolism. Recently, high-dose pharmaceutical-grade biotin (MD1003) was shown to improve clinical parameters in a subset of patients with chronic...